JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study

Background: Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued. Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Fischer, Marco [verfasserIn] Olbrich, Peter [verfasserIn] Hadjadj, Jérôme [verfasserIn] Aumann, Volker [verfasserIn] Bakhtiar, Shahrzad [verfasserIn] Barlogis, Vincent [verfasserIn] von Bismarck, Philipp [verfasserIn] Bloomfield, Markéta [verfasserIn] Booth, Claire [verfasserIn] Buddingh, Emmeline P. [verfasserIn] Cagdas, Deniz [verfasserIn] Castelle, Martin [verfasserIn] Chan, Alice Y. [verfasserIn] Chandrakasan, Shanmuganathan [verfasserIn] Chetty, Kritika [verfasserIn] Cougoul, Pierre [verfasserIn] Crickx, Etienne [verfasserIn] Dara, Jasmeen [verfasserIn] Deyà-Martínez, Angela [verfasserIn] Farmand, Susan [verfasserIn] Formankova, Renata [verfasserIn] Gennery, Andrew R. [verfasserIn] Gonzalez-Granado, Luis Ignacio [verfasserIn] Hagin, David [verfasserIn] Hanitsch, Leif Gunnar [verfasserIn] Hanzlikovà, Jana [verfasserIn] Hauck, Fabian [verfasserIn] Ivorra-Cortés, José [verfasserIn] Kisand, Kai [verfasserIn] Kiykim, Ayca [verfasserIn] Körholz, Julia [verfasserIn] Leahy, Timothy Ronan [verfasserIn] van Montfrans, Joris [verfasserIn] Nademi, Zohreh [verfasserIn] Nelken, Brigitte [verfasserIn] Parikh, Suhag [verfasserIn] Plado, Silvi [verfasserIn] Ramakers, Jan [verfasserIn] Redlich, Antje [verfasserIn] Rieux-Laucat, Frédéric [verfasserIn] Rivière, Jacques G. [verfasserIn] Rodina, Yulia [verfasserIn] Júnior, Pérsio Roxo [verfasserIn] Salou, Sarah [verfasserIn] Schuetz, Catharina [verfasserIn] Shcherbina, Anna [verfasserIn] Slatter, Mary A. [verfasserIn] Touzot, Fabien [verfasserIn] Unal, Ekrem [verfasserIn] Lankester, Arjan C. [verfasserIn] Burns, Siobhan [verfasserIn] Seppänen, Mikko R.J. [verfasserIn] Neth, Olaf [verfasserIn] Albert, Michael H. [verfasserIn] Ehl, Stephan [verfasserIn] Neven, Bénédicte [verfasserIn] Speckmann, Carsten [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2023

Schlagwörter:	JAK/STAT signaling gain of function immune dysregulation primary immunodeficiency inborn error of immunity JAK inhibitor autoimmunity ruxolitinib baricitinib chronic mucocutaneous candidiasis

Übergeordnetes Werk:	Enthalten in: The journal of allergy and clinical immunology - Amsterdam [u.a.] : Elsevier, 1971, 153, Seite 275-286.e18
Übergeordnetes Werk:	volume:153 ; pages:275-286.e18

DOI / URN:	10.1016/j.jaci.2023.10.018

Katalog-ID:	ELV066425913

Internformat


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024	7		\|a 10.1016/j.jaci.2023.10.018 \|2 doi
035			\|a (DE-627)ELV066425913
035			\|a (ELSEVIER)S0091-6749(23)01390-8
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041			\|a eng
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100	1		\|a Fischer, Marco \|e verfasserin \|0 (orcid)0000-0002-2704-7912 \|4 aut
245	1	0	\|a JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
264		1	\|c 2023
336			\|a nicht spezifiziert \|b zzz \|2 rdacontent
337			\|a Computermedien \|b c \|2 rdamedia
338			\|a Online-Ressource \|b cr \|2 rdacarrier
520			\|a Background: Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued.
650		4	\|a JAK/STAT signaling
650		4	\|a gain of function
650		4	\|a immune dysregulation
650		4	\|a primary immunodeficiency
650		4	\|a inborn error of immunity
650		4	\|a JAK inhibitor
650		4	\|a autoimmunity
650		4	\|a ruxolitinib
650		4	\|a baricitinib
650		4	\|a chronic mucocutaneous candidiasis
700	1		\|a Olbrich, Peter \|e verfasserin \|4 aut
700	1		\|a Hadjadj, Jérôme \|e verfasserin \|4 aut
700	1		\|a Aumann, Volker \|e verfasserin \|4 aut
700	1		\|a Bakhtiar, Shahrzad \|e verfasserin \|4 aut
700	1		\|a Barlogis, Vincent \|e verfasserin \|4 aut
700	1		\|a von Bismarck, Philipp \|e verfasserin \|4 aut
700	1		\|a Bloomfield, Markéta \|e verfasserin \|4 aut
700	1		\|a Booth, Claire \|e verfasserin \|4 aut
700	1		\|a Buddingh, Emmeline P. \|e verfasserin \|4 aut
700	1		\|a Cagdas, Deniz \|e verfasserin \|4 aut
700	1		\|a Castelle, Martin \|e verfasserin \|4 aut
700	1		\|a Chan, Alice Y. \|e verfasserin \|4 aut
700	1		\|a Chandrakasan, Shanmuganathan \|e verfasserin \|4 aut
700	1		\|a Chetty, Kritika \|e verfasserin \|4 aut
700	1		\|a Cougoul, Pierre \|e verfasserin \|4 aut
700	1		\|a Crickx, Etienne \|e verfasserin \|4 aut
700	1		\|a Dara, Jasmeen \|e verfasserin \|4 aut
700	1		\|a Deyà-Martínez, Angela \|e verfasserin \|4 aut
700	1		\|a Farmand, Susan \|e verfasserin \|4 aut
700	1		\|a Formankova, Renata \|e verfasserin \|4 aut
700	1		\|a Gennery, Andrew R. \|e verfasserin \|4 aut
700	1		\|a Gonzalez-Granado, Luis Ignacio \|e verfasserin \|4 aut
700	1		\|a Hagin, David \|e verfasserin \|4 aut
700	1		\|a Hanitsch, Leif Gunnar \|e verfasserin \|4 aut
700	1		\|a Hanzlikovà, Jana \|e verfasserin \|4 aut
700	1		\|a Hauck, Fabian \|e verfasserin \|4 aut
700	1		\|a Ivorra-Cortés, José \|e verfasserin \|4 aut
700	1		\|a Kisand, Kai \|e verfasserin \|4 aut
700	1		\|a Kiykim, Ayca \|e verfasserin \|4 aut
700	1		\|a Körholz, Julia \|e verfasserin \|4 aut
700	1		\|a Leahy, Timothy Ronan \|e verfasserin \|4 aut
700	1		\|a van Montfrans, Joris \|e verfasserin \|4 aut
700	1		\|a Nademi, Zohreh \|e verfasserin \|4 aut
700	1		\|a Nelken, Brigitte \|e verfasserin \|4 aut
700	1		\|a Parikh, Suhag \|e verfasserin \|4 aut
700	1		\|a Plado, Silvi \|e verfasserin \|4 aut
700	1		\|a Ramakers, Jan \|e verfasserin \|4 aut
700	1		\|a Redlich, Antje \|e verfasserin \|4 aut
700	1		\|a Rieux-Laucat, Frédéric \|e verfasserin \|4 aut
700	1		\|a Rivière, Jacques G. \|e verfasserin \|4 aut
700	1		\|a Rodina, Yulia \|e verfasserin \|4 aut
700	1		\|a Júnior, Pérsio Roxo \|e verfasserin \|4 aut
700	1		\|a Salou, Sarah \|e verfasserin \|4 aut
700	1		\|a Schuetz, Catharina \|e verfasserin \|4 aut
700	1		\|a Shcherbina, Anna \|e verfasserin \|4 aut
700	1		\|a Slatter, Mary A. \|e verfasserin \|4 aut
700	1		\|a Touzot, Fabien \|e verfasserin \|4 aut
700	1		\|a Unal, Ekrem \|e verfasserin \|4 aut
700	1		\|a Lankester, Arjan C. \|e verfasserin \|4 aut
700	1		\|a Burns, Siobhan \|e verfasserin \|4 aut
700	1		\|a Seppänen, Mikko R.J. \|e verfasserin \|4 aut
700	1		\|a Neth, Olaf \|e verfasserin \|4 aut
700	1		\|a Albert, Michael H. \|e verfasserin \|4 aut
700	1		\|a Ehl, Stephan \|e verfasserin \|4 aut
700	1		\|a Neven, Bénédicte \|e verfasserin \|4 aut
700	1		\|a Speckmann, Carsten \|e verfasserin \|0 (orcid)0000-0002-6217-1556 \|4 aut
773	0	8	\|i Enthalten in \|t The journal of allergy and clinical immunology \|d Amsterdam [u.a.] : Elsevier, 1971 \|g 153, Seite 275-286.e18 \|h Online-Ressource \|w (DE-627)32045553X \|w (DE-600)2006613-2 \|w (DE-576)094478864 \|x 1097-6825 \|7 nnns
773	1	8	\|g volume:153 \|g pages:275-286.e18
912			\|a GBV_USEFLAG_U
912			\|a GBV_ELV
912			\|a SYSFLAG_U
912			\|a SSG-OLC-PHA
912			\|a GBV_ILN_20
912			\|a GBV_ILN_22
912			\|a GBV_ILN_23
912			\|a GBV_ILN_24
912			\|a GBV_ILN_31
912			\|a GBV_ILN_32
912			\|a GBV_ILN_39
912			\|a GBV_ILN_40
912			\|a GBV_ILN_60
912			\|a GBV_ILN_62
912			\|a GBV_ILN_63
912			\|a GBV_ILN_65
912			\|a GBV_ILN_69
912			\|a GBV_ILN_70
912			\|a GBV_ILN_73
912			\|a GBV_ILN_74
912			\|a GBV_ILN_90
912			\|a GBV_ILN_95
912			\|a GBV_ILN_100
912			\|a GBV_ILN_101
912			\|a GBV_ILN_105
912			\|a GBV_ILN_110
912			\|a GBV_ILN_151
912			\|a GBV_ILN_161
912			\|a GBV_ILN_168
912			\|a GBV_ILN_170
912			\|a GBV_ILN_187
912			\|a GBV_ILN_206
912			\|a GBV_ILN_213
912			\|a GBV_ILN_224
912			\|a GBV_ILN_230
912			\|a GBV_ILN_285
912			\|a GBV_ILN_293
912			\|a GBV_ILN_370
912			\|a GBV_ILN_602
912			\|a GBV_ILN_702
912			\|a GBV_ILN_2001
912			\|a GBV_ILN_2003
912			\|a GBV_ILN_2004
912			\|a GBV_ILN_2005
912			\|a GBV_ILN_2007
912			\|a GBV_ILN_2008
912			\|a GBV_ILN_2009
912			\|a GBV_ILN_2010
912			\|a GBV_ILN_2011
912			\|a GBV_ILN_2014
912			\|a GBV_ILN_2015
912			\|a GBV_ILN_2020
912			\|a GBV_ILN_2021
912			\|a GBV_ILN_2025
912			\|a GBV_ILN_2026
912			\|a GBV_ILN_2027
912			\|a GBV_ILN_2034
912			\|a GBV_ILN_2044
912			\|a GBV_ILN_2048
912			\|a GBV_ILN_2049
912			\|a GBV_ILN_2050
912			\|a GBV_ILN_2055
912			\|a GBV_ILN_2056
912			\|a GBV_ILN_2059
912			\|a GBV_ILN_2061
912			\|a GBV_ILN_2064
912			\|a GBV_ILN_2088
912			\|a GBV_ILN_2106
912			\|a GBV_ILN_2110
912			\|a GBV_ILN_2111
912			\|a GBV_ILN_2112
912			\|a GBV_ILN_2122
912			\|a GBV_ILN_2129
912			\|a GBV_ILN_2143
912			\|a GBV_ILN_2152
912			\|a GBV_ILN_2153
912			\|a GBV_ILN_2190
912			\|a GBV_ILN_2232
912			\|a GBV_ILN_2336
912			\|a GBV_ILN_2470
912			\|a GBV_ILN_2507
912			\|a GBV_ILN_4012
912			\|a GBV_ILN_4035
912			\|a GBV_ILN_4037
912			\|a GBV_ILN_4112
912			\|a GBV_ILN_4125
912			\|a GBV_ILN_4126
912			\|a GBV_ILN_4242
912			\|a GBV_ILN_4249
912			\|a GBV_ILN_4251
912			\|a GBV_ILN_4305
912			\|a GBV_ILN_4306
912			\|a GBV_ILN_4307
912			\|a GBV_ILN_4313
912			\|a GBV_ILN_4322
912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
912			\|a GBV_ILN_4326
912			\|a GBV_ILN_4333
912			\|a GBV_ILN_4334
912			\|a GBV_ILN_4338
912			\|a GBV_ILN_4367
912			\|a GBV_ILN_4393
912			\|a GBV_ILN_4700
936	b	k	\|a 44.45 \|j Immunologie \|q VZ
936	b	k	\|a 44.78 \|j Immunkrankheiten \|q VZ
951			\|a AR
952			\|d 153 \|h 275-286.e18

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matchkey_str	article:10976825:2023----::aihbtrramnfrnonrosfasasgaignsdb
hierarchy_sort_str	2023
bklnumber	44.45 44.78
publishDate	2023
allfields	10.1016/j.jaci.2023.10.018 doi (DE-627)ELV066425913 (ELSEVIER)S0091-6749(23)01390-8 DE-627 ger DE-627 rda eng 610 VZ 44.45 bkl 44.78 bkl Fischer, Marco verfasserin (orcid)0000-0002-2704-7912 aut JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued. JAK/STAT signaling gain of function immune dysregulation primary immunodeficiency inborn error of immunity JAK inhibitor autoimmunity ruxolitinib baricitinib chronic mucocutaneous candidiasis Olbrich, Peter verfasserin aut Hadjadj, Jérôme verfasserin aut Aumann, Volker verfasserin aut Bakhtiar, Shahrzad verfasserin aut Barlogis, Vincent verfasserin aut von Bismarck, Philipp verfasserin aut Bloomfield, Markéta verfasserin aut Booth, Claire verfasserin aut Buddingh, Emmeline P. verfasserin aut Cagdas, Deniz verfasserin aut Castelle, Martin verfasserin aut Chan, Alice Y. verfasserin aut Chandrakasan, Shanmuganathan verfasserin aut Chetty, Kritika verfasserin aut Cougoul, Pierre verfasserin aut Crickx, Etienne verfasserin aut Dara, Jasmeen verfasserin aut Deyà-Martínez, Angela verfasserin aut Farmand, Susan verfasserin aut Formankova, Renata verfasserin aut Gennery, Andrew R. verfasserin aut Gonzalez-Granado, Luis Ignacio verfasserin aut Hagin, David verfasserin aut Hanitsch, Leif Gunnar verfasserin aut Hanzlikovà, Jana verfasserin aut Hauck, Fabian verfasserin aut Ivorra-Cortés, José verfasserin aut Kisand, Kai verfasserin aut Kiykim, Ayca verfasserin aut Körholz, Julia verfasserin aut Leahy, Timothy Ronan verfasserin aut van Montfrans, Joris verfasserin aut Nademi, Zohreh verfasserin aut Nelken, Brigitte verfasserin aut Parikh, Suhag verfasserin aut Plado, Silvi verfasserin aut Ramakers, Jan verfasserin aut Redlich, Antje verfasserin aut Rieux-Laucat, Frédéric verfasserin aut Rivière, Jacques G. verfasserin aut Rodina, Yulia verfasserin aut Júnior, Pérsio Roxo verfasserin aut Salou, Sarah verfasserin aut Schuetz, Catharina verfasserin aut Shcherbina, Anna verfasserin aut Slatter, Mary A. verfasserin aut Touzot, Fabien verfasserin aut Unal, Ekrem verfasserin aut Lankester, Arjan C. verfasserin aut Burns, Siobhan verfasserin aut Seppänen, Mikko R.J. verfasserin aut Neth, Olaf verfasserin aut Albert, Michael H. verfasserin aut Ehl, Stephan verfasserin aut Neven, Bénédicte verfasserin aut Speckmann, Carsten verfasserin (orcid)0000-0002-6217-1556 aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 153, Seite 275-286.e18 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:153 pages:275-286.e18 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie VZ 44.78 Immunkrankheiten VZ AR 153 275-286.e18
spelling	10.1016/j.jaci.2023.10.018 doi (DE-627)ELV066425913 (ELSEVIER)S0091-6749(23)01390-8 DE-627 ger DE-627 rda eng 610 VZ 44.45 bkl 44.78 bkl Fischer, Marco verfasserin (orcid)0000-0002-2704-7912 aut JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued. JAK/STAT signaling gain of function immune dysregulation primary immunodeficiency inborn error of immunity JAK inhibitor autoimmunity ruxolitinib baricitinib chronic mucocutaneous candidiasis Olbrich, Peter verfasserin aut Hadjadj, Jérôme verfasserin aut Aumann, Volker verfasserin aut Bakhtiar, Shahrzad verfasserin aut Barlogis, Vincent verfasserin aut von Bismarck, Philipp verfasserin aut Bloomfield, Markéta verfasserin aut Booth, Claire verfasserin aut Buddingh, Emmeline P. verfasserin aut Cagdas, Deniz verfasserin aut Castelle, Martin verfasserin aut Chan, Alice Y. verfasserin aut Chandrakasan, Shanmuganathan verfasserin aut Chetty, Kritika verfasserin aut Cougoul, Pierre verfasserin aut Crickx, Etienne verfasserin aut Dara, Jasmeen verfasserin aut Deyà-Martínez, Angela verfasserin aut Farmand, Susan verfasserin aut Formankova, Renata verfasserin aut Gennery, Andrew R. verfasserin aut Gonzalez-Granado, Luis Ignacio verfasserin aut Hagin, David verfasserin aut Hanitsch, Leif Gunnar verfasserin aut Hanzlikovà, Jana verfasserin aut Hauck, Fabian verfasserin aut Ivorra-Cortés, José verfasserin aut Kisand, Kai verfasserin aut Kiykim, Ayca verfasserin aut Körholz, Julia verfasserin aut Leahy, Timothy Ronan verfasserin aut van Montfrans, Joris verfasserin aut Nademi, Zohreh verfasserin aut Nelken, Brigitte verfasserin aut Parikh, Suhag verfasserin aut Plado, Silvi verfasserin aut Ramakers, Jan verfasserin aut Redlich, Antje verfasserin aut Rieux-Laucat, Frédéric verfasserin aut Rivière, Jacques G. verfasserin aut Rodina, Yulia verfasserin aut Júnior, Pérsio Roxo verfasserin aut Salou, Sarah verfasserin aut Schuetz, Catharina verfasserin aut Shcherbina, Anna verfasserin aut Slatter, Mary A. verfasserin aut Touzot, Fabien verfasserin aut Unal, Ekrem verfasserin aut Lankester, Arjan C. verfasserin aut Burns, Siobhan verfasserin aut Seppänen, Mikko R.J. verfasserin aut Neth, Olaf verfasserin aut Albert, Michael H. verfasserin aut Ehl, Stephan verfasserin aut Neven, Bénédicte verfasserin aut Speckmann, Carsten verfasserin (orcid)0000-0002-6217-1556 aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 153, Seite 275-286.e18 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:153 pages:275-286.e18 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie VZ 44.78 Immunkrankheiten VZ AR 153 275-286.e18
allfields_unstemmed	10.1016/j.jaci.2023.10.018 doi (DE-627)ELV066425913 (ELSEVIER)S0091-6749(23)01390-8 DE-627 ger DE-627 rda eng 610 VZ 44.45 bkl 44.78 bkl Fischer, Marco verfasserin (orcid)0000-0002-2704-7912 aut JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued. JAK/STAT signaling gain of function immune dysregulation primary immunodeficiency inborn error of immunity JAK inhibitor autoimmunity ruxolitinib baricitinib chronic mucocutaneous candidiasis Olbrich, Peter verfasserin aut Hadjadj, Jérôme verfasserin aut Aumann, Volker verfasserin aut Bakhtiar, Shahrzad verfasserin aut Barlogis, Vincent verfasserin aut von Bismarck, Philipp verfasserin aut Bloomfield, Markéta verfasserin aut Booth, Claire verfasserin aut Buddingh, Emmeline P. verfasserin aut Cagdas, Deniz verfasserin aut Castelle, Martin verfasserin aut Chan, Alice Y. verfasserin aut Chandrakasan, Shanmuganathan verfasserin aut Chetty, Kritika verfasserin aut Cougoul, Pierre verfasserin aut Crickx, Etienne verfasserin aut Dara, Jasmeen verfasserin aut Deyà-Martínez, Angela verfasserin aut Farmand, Susan verfasserin aut Formankova, Renata verfasserin aut Gennery, Andrew R. verfasserin aut Gonzalez-Granado, Luis Ignacio verfasserin aut Hagin, David verfasserin aut Hanitsch, Leif Gunnar verfasserin aut Hanzlikovà, Jana verfasserin aut Hauck, Fabian verfasserin aut Ivorra-Cortés, José verfasserin aut Kisand, Kai verfasserin aut Kiykim, Ayca verfasserin aut Körholz, Julia verfasserin aut Leahy, Timothy Ronan verfasserin aut van Montfrans, Joris verfasserin aut Nademi, Zohreh verfasserin aut Nelken, Brigitte verfasserin aut Parikh, Suhag verfasserin aut Plado, Silvi verfasserin aut Ramakers, Jan verfasserin aut Redlich, Antje verfasserin aut Rieux-Laucat, Frédéric verfasserin aut Rivière, Jacques G. verfasserin aut Rodina, Yulia verfasserin aut Júnior, Pérsio Roxo verfasserin aut Salou, Sarah verfasserin aut Schuetz, Catharina verfasserin aut Shcherbina, Anna verfasserin aut Slatter, Mary A. verfasserin aut Touzot, Fabien verfasserin aut Unal, Ekrem verfasserin aut Lankester, Arjan C. verfasserin aut Burns, Siobhan verfasserin aut Seppänen, Mikko R.J. verfasserin aut Neth, Olaf verfasserin aut Albert, Michael H. verfasserin aut Ehl, Stephan verfasserin aut Neven, Bénédicte verfasserin aut Speckmann, Carsten verfasserin (orcid)0000-0002-6217-1556 aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 153, Seite 275-286.e18 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:153 pages:275-286.e18 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie VZ 44.78 Immunkrankheiten VZ AR 153 275-286.e18
allfieldsGer	10.1016/j.jaci.2023.10.018 doi (DE-627)ELV066425913 (ELSEVIER)S0091-6749(23)01390-8 DE-627 ger DE-627 rda eng 610 VZ 44.45 bkl 44.78 bkl Fischer, Marco verfasserin (orcid)0000-0002-2704-7912 aut JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued. JAK/STAT signaling gain of function immune dysregulation primary immunodeficiency inborn error of immunity JAK inhibitor autoimmunity ruxolitinib baricitinib chronic mucocutaneous candidiasis Olbrich, Peter verfasserin aut Hadjadj, Jérôme verfasserin aut Aumann, Volker verfasserin aut Bakhtiar, Shahrzad verfasserin aut Barlogis, Vincent verfasserin aut von Bismarck, Philipp verfasserin aut Bloomfield, Markéta verfasserin aut Booth, Claire verfasserin aut Buddingh, Emmeline P. verfasserin aut Cagdas, Deniz verfasserin aut Castelle, Martin verfasserin aut Chan, Alice Y. verfasserin aut Chandrakasan, Shanmuganathan verfasserin aut Chetty, Kritika verfasserin aut Cougoul, Pierre verfasserin aut Crickx, Etienne verfasserin aut Dara, Jasmeen verfasserin aut Deyà-Martínez, Angela verfasserin aut Farmand, Susan verfasserin aut Formankova, Renata verfasserin aut Gennery, Andrew R. verfasserin aut Gonzalez-Granado, Luis Ignacio verfasserin aut Hagin, David verfasserin aut Hanitsch, Leif Gunnar verfasserin aut Hanzlikovà, Jana verfasserin aut Hauck, Fabian verfasserin aut Ivorra-Cortés, José verfasserin aut Kisand, Kai verfasserin aut Kiykim, Ayca verfasserin aut Körholz, Julia verfasserin aut Leahy, Timothy Ronan verfasserin aut van Montfrans, Joris verfasserin aut Nademi, Zohreh verfasserin aut Nelken, Brigitte verfasserin aut Parikh, Suhag verfasserin aut Plado, Silvi verfasserin aut Ramakers, Jan verfasserin aut Redlich, Antje verfasserin aut Rieux-Laucat, Frédéric verfasserin aut Rivière, Jacques G. verfasserin aut Rodina, Yulia verfasserin aut Júnior, Pérsio Roxo verfasserin aut Salou, Sarah verfasserin aut Schuetz, Catharina verfasserin aut Shcherbina, Anna verfasserin aut Slatter, Mary A. verfasserin aut Touzot, Fabien verfasserin aut Unal, Ekrem verfasserin aut Lankester, Arjan C. verfasserin aut Burns, Siobhan verfasserin aut Seppänen, Mikko R.J. verfasserin aut Neth, Olaf verfasserin aut Albert, Michael H. verfasserin aut Ehl, Stephan verfasserin aut Neven, Bénédicte verfasserin aut Speckmann, Carsten verfasserin (orcid)0000-0002-6217-1556 aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 153, Seite 275-286.e18 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:153 pages:275-286.e18 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie VZ 44.78 Immunkrankheiten VZ AR 153 275-286.e18
allfieldsSound	10.1016/j.jaci.2023.10.018 doi (DE-627)ELV066425913 (ELSEVIER)S0091-6749(23)01390-8 DE-627 ger DE-627 rda eng 610 VZ 44.45 bkl 44.78 bkl Fischer, Marco verfasserin (orcid)0000-0002-2704-7912 aut JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued. JAK/STAT signaling gain of function immune dysregulation primary immunodeficiency inborn error of immunity JAK inhibitor autoimmunity ruxolitinib baricitinib chronic mucocutaneous candidiasis Olbrich, Peter verfasserin aut Hadjadj, Jérôme verfasserin aut Aumann, Volker verfasserin aut Bakhtiar, Shahrzad verfasserin aut Barlogis, Vincent verfasserin aut von Bismarck, Philipp verfasserin aut Bloomfield, Markéta verfasserin aut Booth, Claire verfasserin aut Buddingh, Emmeline P. verfasserin aut Cagdas, Deniz verfasserin aut Castelle, Martin verfasserin aut Chan, Alice Y. verfasserin aut Chandrakasan, Shanmuganathan verfasserin aut Chetty, Kritika verfasserin aut Cougoul, Pierre verfasserin aut Crickx, Etienne verfasserin aut Dara, Jasmeen verfasserin aut Deyà-Martínez, Angela verfasserin aut Farmand, Susan verfasserin aut Formankova, Renata verfasserin aut Gennery, Andrew R. verfasserin aut Gonzalez-Granado, Luis Ignacio verfasserin aut Hagin, David verfasserin aut Hanitsch, Leif Gunnar verfasserin aut Hanzlikovà, Jana verfasserin aut Hauck, Fabian verfasserin aut Ivorra-Cortés, José verfasserin aut Kisand, Kai verfasserin aut Kiykim, Ayca verfasserin aut Körholz, Julia verfasserin aut Leahy, Timothy Ronan verfasserin aut van Montfrans, Joris verfasserin aut Nademi, Zohreh verfasserin aut Nelken, Brigitte verfasserin aut Parikh, Suhag verfasserin aut Plado, Silvi verfasserin aut Ramakers, Jan verfasserin aut Redlich, Antje verfasserin aut Rieux-Laucat, Frédéric verfasserin aut Rivière, Jacques G. verfasserin aut Rodina, Yulia verfasserin aut Júnior, Pérsio Roxo verfasserin aut Salou, Sarah verfasserin aut Schuetz, Catharina verfasserin aut Shcherbina, Anna verfasserin aut Slatter, Mary A. verfasserin aut Touzot, Fabien verfasserin aut Unal, Ekrem verfasserin aut Lankester, Arjan C. verfasserin aut Burns, Siobhan verfasserin aut Seppänen, Mikko R.J. verfasserin aut Neth, Olaf verfasserin aut Albert, Michael H. verfasserin aut Ehl, Stephan verfasserin aut Neven, Bénédicte verfasserin aut Speckmann, Carsten verfasserin (orcid)0000-0002-6217-1556 aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 153, Seite 275-286.e18 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:153 pages:275-286.e18 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie VZ 44.78 Immunkrankheiten VZ AR 153 275-286.e18
language	English
source	Enthalten in The journal of allergy and clinical immunology 153, Seite 275-286.e18 volume:153 pages:275-286.e18
sourceStr	Enthalten in The journal of allergy and clinical immunology 153, Seite 275-286.e18 volume:153 pages:275-286.e18
format_phy_str_mv	Article
bklname	Immunologie Immunkrankheiten
institution	findex.gbv.de
topic_facet	JAK/STAT signaling gain of function immune dysregulation primary immunodeficiency inborn error of immunity JAK inhibitor autoimmunity ruxolitinib baricitinib chronic mucocutaneous candidiasis
dewey-raw	610
isfreeaccess_bool	false
container_title	The journal of allergy and clinical immunology
authorswithroles_txt_mv	Fischer, Marco @@aut@@ Olbrich, Peter @@aut@@ Hadjadj, Jérôme @@aut@@ Aumann, Volker @@aut@@ Bakhtiar, Shahrzad @@aut@@ Barlogis, Vincent @@aut@@ von Bismarck, Philipp @@aut@@ Bloomfield, Markéta @@aut@@ Booth, Claire @@aut@@ Buddingh, Emmeline P. @@aut@@ Cagdas, Deniz @@aut@@ Castelle, Martin @@aut@@ Chan, Alice Y. @@aut@@ Chandrakasan, Shanmuganathan @@aut@@ Chetty, Kritika @@aut@@ Cougoul, Pierre @@aut@@ Crickx, Etienne @@aut@@ Dara, Jasmeen @@aut@@ Deyà-Martínez, Angela @@aut@@ Farmand, Susan @@aut@@ Formankova, Renata @@aut@@ Gennery, Andrew R. @@aut@@ Gonzalez-Granado, Luis Ignacio @@aut@@ Hagin, David @@aut@@ Hanitsch, Leif Gunnar @@aut@@ Hanzlikovà, Jana @@aut@@ Hauck, Fabian @@aut@@ Ivorra-Cortés, José @@aut@@ Kisand, Kai @@aut@@ Kiykim, Ayca @@aut@@ Körholz, Julia @@aut@@ Leahy, Timothy Ronan @@aut@@ van Montfrans, Joris @@aut@@ Nademi, Zohreh @@aut@@ Nelken, Brigitte @@aut@@ Parikh, Suhag @@aut@@ Plado, Silvi @@aut@@ Ramakers, Jan @@aut@@ Redlich, Antje @@aut@@ Rieux-Laucat, Frédéric @@aut@@ Rivière, Jacques G. @@aut@@ Rodina, Yulia @@aut@@ Júnior, Pérsio Roxo @@aut@@ Salou, Sarah @@aut@@ Schuetz, Catharina @@aut@@ Shcherbina, Anna @@aut@@ Slatter, Mary A. @@aut@@ Touzot, Fabien @@aut@@ Unal, Ekrem @@aut@@ Lankester, Arjan C. @@aut@@ Burns, Siobhan @@aut@@ Seppänen, Mikko R.J. @@aut@@ Neth, Olaf @@aut@@ Albert, Michael H. @@aut@@ Ehl, Stephan @@aut@@ Neven, Bénédicte @@aut@@ Speckmann, Carsten @@aut@@
publishDateDaySort_date	2023-01-01T00:00:00Z
hierarchy_top_id	32045553X
dewey-sort	3610
id	ELV066425913
language_de	englisch
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Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. 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author	Fischer, Marco
spellingShingle	Fischer, Marco ddc 610 bkl 44.45 bkl 44.78 misc JAK/STAT signaling misc gain of function misc immune dysregulation misc primary immunodeficiency misc inborn error of immunity misc JAK inhibitor misc autoimmunity misc ruxolitinib misc baricitinib misc chronic mucocutaneous candidiasis JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
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topic_title	610 VZ 44.45 bkl 44.78 bkl JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study JAK/STAT signaling gain of function immune dysregulation primary immunodeficiency inborn error of immunity JAK inhibitor autoimmunity ruxolitinib baricitinib chronic mucocutaneous candidiasis
topic	ddc 610 bkl 44.45 bkl 44.78 misc JAK/STAT signaling misc gain of function misc immune dysregulation misc primary immunodeficiency misc inborn error of immunity misc JAK inhibitor misc autoimmunity misc ruxolitinib misc baricitinib misc chronic mucocutaneous candidiasis
topic_unstemmed	ddc 610 bkl 44.45 bkl 44.78 misc JAK/STAT signaling misc gain of function misc immune dysregulation misc primary immunodeficiency misc inborn error of immunity misc JAK inhibitor misc autoimmunity misc ruxolitinib misc baricitinib misc chronic mucocutaneous candidiasis
topic_browse	ddc 610 bkl 44.45 bkl 44.78 misc JAK/STAT signaling misc gain of function misc immune dysregulation misc primary immunodeficiency misc inborn error of immunity misc JAK inhibitor misc autoimmunity misc ruxolitinib misc baricitinib misc chronic mucocutaneous candidiasis
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title	JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
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title_full	JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
author_sort	Fischer, Marco
journal	The journal of allergy and clinical immunology
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author_browse	Fischer, Marco Olbrich, Peter Hadjadj, Jérôme Aumann, Volker Bakhtiar, Shahrzad Barlogis, Vincent von Bismarck, Philipp Bloomfield, Markéta Booth, Claire Buddingh, Emmeline P. Cagdas, Deniz Castelle, Martin Chan, Alice Y. Chandrakasan, Shanmuganathan Chetty, Kritika Cougoul, Pierre Crickx, Etienne Dara, Jasmeen Deyà-Martínez, Angela Farmand, Susan Formankova, Renata Gennery, Andrew R. Gonzalez-Granado, Luis Ignacio Hagin, David Hanitsch, Leif Gunnar Hanzlikovà, Jana Hauck, Fabian Ivorra-Cortés, José Kisand, Kai Kiykim, Ayca Körholz, Julia Leahy, Timothy Ronan van Montfrans, Joris Nademi, Zohreh Nelken, Brigitte Parikh, Suhag Plado, Silvi Ramakers, Jan Redlich, Antje Rieux-Laucat, Frédéric Rivière, Jacques G. Rodina, Yulia Júnior, Pérsio Roxo Salou, Sarah Schuetz, Catharina Shcherbina, Anna Slatter, Mary A. Touzot, Fabien Unal, Ekrem Lankester, Arjan C. Burns, Siobhan Seppänen, Mikko R.J. Neth, Olaf Albert, Michael H. Ehl, Stephan Neven, Bénédicte Speckmann, Carsten
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author-letter	Fischer, Marco
doi_str_mv	10.1016/j.jaci.2023.10.018
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title_sort	jak inhibitor treatment for inborn errors of jak/stat signaling: an esid/ebmt-iewp retrospective study
title_auth	JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
abstract	Background: Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued.
abstractGer	Background: Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued.
abstract_unstemmed	Background: Inborn errors of immunity (IEI) with dysregulated JAK/STAT signaling present with variable manifestations of immune dysregulation and infections. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). Ruxolitinib was the predominantly prescribed JAKi (80%). Overall, treatment resulted in improvement (partial or complete remission) of clinical symptoms in 87% of STAT1-GOF and in 90% of STAT3-GOF patients. We documented highly heterogeneous dosing and monitoring regimens. The response rate and time to response varied across different diseases and manifestations. Adverse events including infection and weight gain were frequent (38% of patients) but were mild (grade I-II) and transient in most patients. At last follow-up, 52 (74%) of 69 patients were still receiving JAKi treatment, and 11 patients eventually underwent HSCT after receipt of previous JAKi bridging therapy, with 91% overall survival.Conclusions: Our study suggests that JAKi may be highly effective to treat symptomatic JAK/STAT IEI patients. Prospective studies to define optimal JAKi dosing for the variable clinical presentations and age ranges should be pursued.
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title_short	JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
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author2	Olbrich, Peter Hadjadj, Jérôme Aumann, Volker Bakhtiar, Shahrzad Barlogis, Vincent von Bismarck, Philipp Bloomfield, Markéta Booth, Claire Buddingh, Emmeline P. Cagdas, Deniz Castelle, Martin Chan, Alice Y. Chandrakasan, Shanmuganathan Chetty, Kritika Cougoul, Pierre Crickx, Etienne Dara, Jasmeen Deyà-Martínez, Angela Farmand, Susan Formankova, Renata Gennery, Andrew R. Gonzalez-Granado, Luis Ignacio Hagin, David Hanitsch, Leif Gunnar Hanzlikovà, Jana Hauck, Fabian Ivorra-Cortés, José Kisand, Kai Kiykim, Ayca Körholz, Julia Leahy, Timothy Ronan van Montfrans, Joris Nademi, Zohreh Nelken, Brigitte Parikh, Suhag Plado, Silvi Ramakers, Jan Redlich, Antje Rieux-Laucat, Frédéric Rivière, Jacques G. Rodina, Yulia Júnior, Pérsio Roxo Salou, Sarah Schuetz, Catharina Shcherbina, Anna Slatter, Mary A. Touzot, Fabien Unal, Ekrem Lankester, Arjan C. Burns, Siobhan Seppänen, Mikko R.J. Neth, Olaf Albert, Michael H. Ehl, Stephan Neven, Bénédicte Speckmann, Carsten
author2Str	Olbrich, Peter Hadjadj, Jérôme Aumann, Volker Bakhtiar, Shahrzad Barlogis, Vincent von Bismarck, Philipp Bloomfield, Markéta Booth, Claire Buddingh, Emmeline P. Cagdas, Deniz Castelle, Martin Chan, Alice Y. Chandrakasan, Shanmuganathan Chetty, Kritika Cougoul, Pierre Crickx, Etienne Dara, Jasmeen Deyà-Martínez, Angela Farmand, Susan Formankova, Renata Gennery, Andrew R. Gonzalez-Granado, Luis Ignacio Hagin, David Hanitsch, Leif Gunnar Hanzlikovà, Jana Hauck, Fabian Ivorra-Cortés, José Kisand, Kai Kiykim, Ayca Körholz, Julia Leahy, Timothy Ronan van Montfrans, Joris Nademi, Zohreh Nelken, Brigitte Parikh, Suhag Plado, Silvi Ramakers, Jan Redlich, Antje Rieux-Laucat, Frédéric Rivière, Jacques G. Rodina, Yulia Júnior, Pérsio Roxo Salou, Sarah Schuetz, Catharina Shcherbina, Anna Slatter, Mary A. Touzot, Fabien Unal, Ekrem Lankester, Arjan C. Burns, Siobhan Seppänen, Mikko R.J. Neth, Olaf Albert, Michael H. Ehl, Stephan Neven, Bénédicte Speckmann, Carsten
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doi_str	10.1016/j.jaci.2023.10.018
up_date	2024-07-06T17:43:02.716Z
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Hematopoietic stem cell transplantation (HSCT) is potentially curative, but initially reported outcomes were poor. JAK inhibitors (JAKi) offer a targeted treatment option that may be an alternative or bridge to HSCT. However, data on their current use, treatment efficacy and adverse events are limited.Objective: We evaluated the current off-label JAKi treatment experience for JAK/STAT inborn errors of immunity (IEI) among European Society for Immunodeficiencies (ESID)/European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party (IEWP) centers.Methods: We conducted a multicenter retrospective study on patients with a genetic disorder of hyperactive JAK/STAT signaling who received JAKi treatment for at least 3 months.Results: Sixty-nine patients (72% children) were evaluated (45 STAT1 gain of function [GOF], 21 STAT3-GOF, 1 STAT5B-GOF, 1 suppressor of cytokine signaling 1 [aka SOCS1] loss of function, 1 JAK1-GOF). 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