Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome

Background Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. C...
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Autor*in:	Xie, Vivien X. [verfasserIn] File, Wilson Wiedl, Christina Ward, Brant R. Saldaña, Blachy Dávila Keller, Michael D. Kornbluh, Alexandra B.

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2023

Schlagwörter:	Wiskott-Aldrich syndrome Optic neuritis Demyelination Myelin oligodendrocyte glycoprotein antibody associated disease

Anmerkung:	© The Author(s) 2023

Übergeordnetes Werk:	Enthalten in: Allergy, asthma and clinical immunology - London : BioMed Central, 2005, 19(2023), 1 vom: 07. Aug.
Übergeordnetes Werk:	volume:19 ; year:2023 ; number:1 ; day:07 ; month:08

Links:	Volltext

DOI / URN:	10.1186/s13223-023-00827-x

Katalog-ID:	SPR05266497X

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520			\|a Background Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. Case Presentation We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. Conclusions This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options.
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allfields	10.1186/s13223-023-00827-x doi (DE-627)SPR05266497X (SPR)s13223-023-00827-x-e DE-627 ger DE-627 rakwb eng Xie, Vivien X. verfasserin (orcid)0000-0003-0426-4268 aut Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. Case Presentation We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. Conclusions This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options. Wiskott-Aldrich syndrome (dpeaa)DE-He213 Optic neuritis (dpeaa)DE-He213 Demyelination (dpeaa)DE-He213 Myelin oligodendrocyte glycoprotein antibody associated disease (dpeaa)DE-He213 File, Wilson aut Wiedl, Christina aut Ward, Brant R. aut Saldaña, Blachy Dávila aut Keller, Michael D. aut Kornbluh, Alexandra B. aut Enthalten in Allergy, asthma and clinical immunology London : BioMed Central, 2005 19(2023), 1 vom: 07. Aug. (DE-627)512662487 (DE-600)2236671-4 1710-1492 nnns volume:19 year:2023 number:1 day:07 month:08 https://dx.doi.org/10.1186/s13223-023-00827-x kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2023 1 07 08
spelling	10.1186/s13223-023-00827-x doi (DE-627)SPR05266497X (SPR)s13223-023-00827-x-e DE-627 ger DE-627 rakwb eng Xie, Vivien X. verfasserin (orcid)0000-0003-0426-4268 aut Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. Case Presentation We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. Conclusions This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options. Wiskott-Aldrich syndrome (dpeaa)DE-He213 Optic neuritis (dpeaa)DE-He213 Demyelination (dpeaa)DE-He213 Myelin oligodendrocyte glycoprotein antibody associated disease (dpeaa)DE-He213 File, Wilson aut Wiedl, Christina aut Ward, Brant R. aut Saldaña, Blachy Dávila aut Keller, Michael D. aut Kornbluh, Alexandra B. aut Enthalten in Allergy, asthma and clinical immunology London : BioMed Central, 2005 19(2023), 1 vom: 07. Aug. (DE-627)512662487 (DE-600)2236671-4 1710-1492 nnns volume:19 year:2023 number:1 day:07 month:08 https://dx.doi.org/10.1186/s13223-023-00827-x kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2023 1 07 08
allfields_unstemmed	10.1186/s13223-023-00827-x doi (DE-627)SPR05266497X (SPR)s13223-023-00827-x-e DE-627 ger DE-627 rakwb eng Xie, Vivien X. verfasserin (orcid)0000-0003-0426-4268 aut Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. Case Presentation We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. Conclusions This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options. Wiskott-Aldrich syndrome (dpeaa)DE-He213 Optic neuritis (dpeaa)DE-He213 Demyelination (dpeaa)DE-He213 Myelin oligodendrocyte glycoprotein antibody associated disease (dpeaa)DE-He213 File, Wilson aut Wiedl, Christina aut Ward, Brant R. aut Saldaña, Blachy Dávila aut Keller, Michael D. aut Kornbluh, Alexandra B. aut Enthalten in Allergy, asthma and clinical immunology London : BioMed Central, 2005 19(2023), 1 vom: 07. Aug. (DE-627)512662487 (DE-600)2236671-4 1710-1492 nnns volume:19 year:2023 number:1 day:07 month:08 https://dx.doi.org/10.1186/s13223-023-00827-x kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2023 1 07 08
allfieldsGer	10.1186/s13223-023-00827-x doi (DE-627)SPR05266497X (SPR)s13223-023-00827-x-e DE-627 ger DE-627 rakwb eng Xie, Vivien X. verfasserin (orcid)0000-0003-0426-4268 aut Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. Case Presentation We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. Conclusions This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options. Wiskott-Aldrich syndrome (dpeaa)DE-He213 Optic neuritis (dpeaa)DE-He213 Demyelination (dpeaa)DE-He213 Myelin oligodendrocyte glycoprotein antibody associated disease (dpeaa)DE-He213 File, Wilson aut Wiedl, Christina aut Ward, Brant R. aut Saldaña, Blachy Dávila aut Keller, Michael D. aut Kornbluh, Alexandra B. aut Enthalten in Allergy, asthma and clinical immunology London : BioMed Central, 2005 19(2023), 1 vom: 07. Aug. (DE-627)512662487 (DE-600)2236671-4 1710-1492 nnns volume:19 year:2023 number:1 day:07 month:08 https://dx.doi.org/10.1186/s13223-023-00827-x kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2023 1 07 08
allfieldsSound	10.1186/s13223-023-00827-x doi (DE-627)SPR05266497X (SPR)s13223-023-00827-x-e DE-627 ger DE-627 rakwb eng Xie, Vivien X. verfasserin (orcid)0000-0003-0426-4268 aut Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. Case Presentation We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. Conclusions This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options. Wiskott-Aldrich syndrome (dpeaa)DE-He213 Optic neuritis (dpeaa)DE-He213 Demyelination (dpeaa)DE-He213 Myelin oligodendrocyte glycoprotein antibody associated disease (dpeaa)DE-He213 File, Wilson aut Wiedl, Christina aut Ward, Brant R. aut Saldaña, Blachy Dávila aut Keller, Michael D. aut Kornbluh, Alexandra B. aut Enthalten in Allergy, asthma and clinical immunology London : BioMed Central, 2005 19(2023), 1 vom: 07. Aug. (DE-627)512662487 (DE-600)2236671-4 1710-1492 nnns volume:19 year:2023 number:1 day:07 month:08 https://dx.doi.org/10.1186/s13223-023-00827-x kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 19 2023 1 07 08
language	English
source	Enthalten in Allergy, asthma and clinical immunology 19(2023), 1 vom: 07. Aug. volume:19 year:2023 number:1 day:07 month:08
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topic_facet	Wiskott-Aldrich syndrome Optic neuritis Demyelination Myelin oligodendrocyte glycoprotein antibody associated disease
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Central nervous system (CNS) autoimmune manifestations are uncommon. Case Presentation We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. 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author	Xie, Vivien X.
spellingShingle	Xie, Vivien X. misc Wiskott-Aldrich syndrome misc Optic neuritis misc Demyelination misc Myelin oligodendrocyte glycoprotein antibody associated disease Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome
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topic_title	Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome (dpeaa)DE-He213 Optic neuritis (dpeaa)DE-He213 Demyelination (dpeaa)DE-He213 Myelin oligodendrocyte glycoprotein antibody associated disease (dpeaa)DE-He213
topic	misc Wiskott-Aldrich syndrome misc Optic neuritis misc Demyelination misc Myelin oligodendrocyte glycoprotein antibody associated disease
topic_unstemmed	misc Wiskott-Aldrich syndrome misc Optic neuritis misc Demyelination misc Myelin oligodendrocyte glycoprotein antibody associated disease
topic_browse	misc Wiskott-Aldrich syndrome misc Optic neuritis misc Demyelination misc Myelin oligodendrocyte glycoprotein antibody associated disease
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title	Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome
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title_full	Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome
author_sort	Xie, Vivien X.
journal	Allergy, asthma and clinical immunology
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author_browse	Xie, Vivien X. File, Wilson Wiedl, Christina Ward, Brant R. Saldaña, Blachy Dávila Keller, Michael D. Kornbluh, Alexandra B.
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title_sort	myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with wiskott-aldrich syndrome
title_auth	Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome
abstract	Background Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. Case Presentation We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. Conclusions This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options. © The Author(s) 2023
abstractGer	Background Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. Case Presentation We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. Conclusions This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options. © The Author(s) 2023
abstract_unstemmed	Background Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. Case Presentation We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. Conclusions This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options. © The Author(s) 2023
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title_short	Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome
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Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome

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