Immunodeficiency due to a novel variant in PIK3CD: a case report

Background Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bis...
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Autor*in:	Shashaani, Niloofar [verfasserIn] Chavoshzadeh, Zahra Ghasemi, Leila Ghotbabadi, Shabnam Hajiani Shiari, Sara Sharafian, Samin Shiari, Reza

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2023

Schlagwörter:	Combined Immunodeficiency syndrome Activated phosphoinositide 3-kinase delta syndrome (APDS) Phosphoinositide 3-kinase

Anmerkung:	© The Author(s) 2023

Übergeordnetes Werk:	Enthalten in: Pediatric rheumatology - London : BioMed Central, 2003, 21(2023), 1 vom: 20. Juli
Übergeordnetes Werk:	volume:21 ; year:2023 ; number:1 ; day:20 ; month:07

Links:	Volltext

DOI / URN:	10.1186/s12969-023-00859-y

Katalog-ID:	SPR05232317X

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520			\|a Background Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. Case presentation In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. Conclusion The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient’s frequent infections and fevers were controlled.
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allfields	10.1186/s12969-023-00859-y doi (DE-627)SPR05232317X (SPR)s12969-023-00859-y-e DE-627 ger DE-627 rakwb eng Shashaani, Niloofar verfasserin aut Immunodeficiency due to a novel variant in PIK3CD: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. Case presentation In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. Conclusion The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient’s frequent infections and fevers were controlled. Combined Immunodeficiency syndrome (dpeaa)DE-He213 Activated phosphoinositide 3-kinase delta syndrome (APDS) (dpeaa)DE-He213 Phosphoinositide 3-kinase (dpeaa)DE-He213 Chavoshzadeh, Zahra aut Ghasemi, Leila aut Ghotbabadi, Shabnam Hajiani aut Shiari, Sara aut Sharafian, Samin aut Shiari, Reza aut Enthalten in Pediatric rheumatology London : BioMed Central, 2003 21(2023), 1 vom: 20. Juli (DE-627)527833746 (DE-600)2279468-2 1546-0096 nnns volume:21 year:2023 number:1 day:20 month:07 https://dx.doi.org/10.1186/s12969-023-00859-y 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 21 2023 1 20 07
spelling	10.1186/s12969-023-00859-y doi (DE-627)SPR05232317X (SPR)s12969-023-00859-y-e DE-627 ger DE-627 rakwb eng Shashaani, Niloofar verfasserin aut Immunodeficiency due to a novel variant in PIK3CD: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. Case presentation In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. Conclusion The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient’s frequent infections and fevers were controlled. Combined Immunodeficiency syndrome (dpeaa)DE-He213 Activated phosphoinositide 3-kinase delta syndrome (APDS) (dpeaa)DE-He213 Phosphoinositide 3-kinase (dpeaa)DE-He213 Chavoshzadeh, Zahra aut Ghasemi, Leila aut Ghotbabadi, Shabnam Hajiani aut Shiari, Sara aut Sharafian, Samin aut Shiari, Reza aut Enthalten in Pediatric rheumatology London : BioMed Central, 2003 21(2023), 1 vom: 20. Juli (DE-627)527833746 (DE-600)2279468-2 1546-0096 nnns volume:21 year:2023 number:1 day:20 month:07 https://dx.doi.org/10.1186/s12969-023-00859-y 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 21 2023 1 20 07
allfields_unstemmed	10.1186/s12969-023-00859-y doi (DE-627)SPR05232317X (SPR)s12969-023-00859-y-e DE-627 ger DE-627 rakwb eng Shashaani, Niloofar verfasserin aut Immunodeficiency due to a novel variant in PIK3CD: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. Case presentation In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. Conclusion The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient’s frequent infections and fevers were controlled. Combined Immunodeficiency syndrome (dpeaa)DE-He213 Activated phosphoinositide 3-kinase delta syndrome (APDS) (dpeaa)DE-He213 Phosphoinositide 3-kinase (dpeaa)DE-He213 Chavoshzadeh, Zahra aut Ghasemi, Leila aut Ghotbabadi, Shabnam Hajiani aut Shiari, Sara aut Sharafian, Samin aut Shiari, Reza aut Enthalten in Pediatric rheumatology London : BioMed Central, 2003 21(2023), 1 vom: 20. Juli (DE-627)527833746 (DE-600)2279468-2 1546-0096 nnns volume:21 year:2023 number:1 day:20 month:07 https://dx.doi.org/10.1186/s12969-023-00859-y 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 21 2023 1 20 07
allfieldsGer	10.1186/s12969-023-00859-y doi (DE-627)SPR05232317X (SPR)s12969-023-00859-y-e DE-627 ger DE-627 rakwb eng Shashaani, Niloofar verfasserin aut Immunodeficiency due to a novel variant in PIK3CD: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. Case presentation In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. Conclusion The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient’s frequent infections and fevers were controlled. Combined Immunodeficiency syndrome (dpeaa)DE-He213 Activated phosphoinositide 3-kinase delta syndrome (APDS) (dpeaa)DE-He213 Phosphoinositide 3-kinase (dpeaa)DE-He213 Chavoshzadeh, Zahra aut Ghasemi, Leila aut Ghotbabadi, Shabnam Hajiani aut Shiari, Sara aut Sharafian, Samin aut Shiari, Reza aut Enthalten in Pediatric rheumatology London : BioMed Central, 2003 21(2023), 1 vom: 20. Juli (DE-627)527833746 (DE-600)2279468-2 1546-0096 nnns volume:21 year:2023 number:1 day:20 month:07 https://dx.doi.org/10.1186/s12969-023-00859-y 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 21 2023 1 20 07
allfieldsSound	10.1186/s12969-023-00859-y doi (DE-627)SPR05232317X (SPR)s12969-023-00859-y-e DE-627 ger DE-627 rakwb eng Shashaani, Niloofar verfasserin aut Immunodeficiency due to a novel variant in PIK3CD: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Background Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. Case presentation In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. Conclusion The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient’s frequent infections and fevers were controlled. Combined Immunodeficiency syndrome (dpeaa)DE-He213 Activated phosphoinositide 3-kinase delta syndrome (APDS) (dpeaa)DE-He213 Phosphoinositide 3-kinase (dpeaa)DE-He213 Chavoshzadeh, Zahra aut Ghasemi, Leila aut Ghotbabadi, Shabnam Hajiani aut Shiari, Sara aut Sharafian, Samin aut Shiari, Reza aut Enthalten in Pediatric rheumatology London : BioMed Central, 2003 21(2023), 1 vom: 20. Juli (DE-627)527833746 (DE-600)2279468-2 1546-0096 nnns volume:21 year:2023 number:1 day:20 month:07 https://dx.doi.org/10.1186/s12969-023-00859-y 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 21 2023 1 20 07
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source	Enthalten in Pediatric rheumatology 21(2023), 1 vom: 20. Juli volume:21 year:2023 number:1 day:20 month:07
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topic_facet	Combined Immunodeficiency syndrome Activated phosphoinositide 3-kinase delta syndrome (APDS) Phosphoinositide 3-kinase
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container_title	Pediatric rheumatology
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author	Shashaani, Niloofar
spellingShingle	Shashaani, Niloofar misc Combined Immunodeficiency syndrome misc Activated phosphoinositide 3-kinase delta syndrome (APDS) misc Phosphoinositide 3-kinase Immunodeficiency due to a novel variant in PIK3CD: a case report
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topic_title	Immunodeficiency due to a novel variant in PIK3CD: a case report Combined Immunodeficiency syndrome (dpeaa)DE-He213 Activated phosphoinositide 3-kinase delta syndrome (APDS) (dpeaa)DE-He213 Phosphoinositide 3-kinase (dpeaa)DE-He213
topic	misc Combined Immunodeficiency syndrome misc Activated phosphoinositide 3-kinase delta syndrome (APDS) misc Phosphoinositide 3-kinase
topic_unstemmed	misc Combined Immunodeficiency syndrome misc Activated phosphoinositide 3-kinase delta syndrome (APDS) misc Phosphoinositide 3-kinase
topic_browse	misc Combined Immunodeficiency syndrome misc Activated phosphoinositide 3-kinase delta syndrome (APDS) misc Phosphoinositide 3-kinase
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title	Immunodeficiency due to a novel variant in PIK3CD: a case report
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title_full	Immunodeficiency due to a novel variant in PIK3CD: a case report
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author_browse	Shashaani, Niloofar Chavoshzadeh, Zahra Ghasemi, Leila Ghotbabadi, Shabnam Hajiani Shiari, Sara Sharafian, Samin Shiari, Reza
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title_sort	immunodeficiency due to a novel variant in pik3cd: a case report
title_auth	Immunodeficiency due to a novel variant in PIK3CD: a case report
abstract	Background Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. Case presentation In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. Conclusion The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient’s frequent infections and fevers were controlled. © The Author(s) 2023
abstractGer	Background Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. Case presentation In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. Conclusion The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient’s frequent infections and fevers were controlled. © The Author(s) 2023
abstract_unstemmed	Background Primary immunodeficiencies are immunological disorders caused by gene mutations involved in immune system development and activation. Recently, activated phosphoinositide 3-kinase delta syndrome (APDS) due to mutations in the phosphoinositide 3-kinase (PI3K), phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic subunit delta gene (PIK3CD), and phosphoinositide 3-kinase regulatory subunit 1 (PIK3R1) genes have been reported to induce a combined immunodeficiency syndrome leading to senescent T cells, lymphadenopathy, and immunodeficiency. The exact diagnosis of these deficiencies is essential for treatment and prognosis. In recent years, targeted treatment with selective PI3Kd inhibitors has had a significant effect on controlling the symptoms of these patients. Case presentation In this case report, we represent a 27-month-old girl with recurrent fever, an increased level of inflammatory markers, and erythema nodosum, who was referred to the rheumatology clinic. In the course of evaluations, because of the lack of clinical improvement with usual treatments, and a history of frequent respiratory infections, combined immunodeficiency was diagnosed in the immunological investigations. Moreover, whole-exome sequencing was performed for her. Conclusion The genetic analysis found a novel variant of PIK3CD (c.1429 G > A) in the patient. Following daily antibiotic prophylaxis and monthly IV therapy, the patient’s frequent infections and fevers were controlled. © The Author(s) 2023
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title_short	Immunodeficiency due to a novel variant in PIK3CD: a case report
url	https://dx.doi.org/10.1186/s12969-023-00859-y
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author2	Chavoshzadeh, Zahra Ghasemi, Leila Ghotbabadi, Shabnam Hajiani Shiari, Sara Sharafian, Samin Shiari, Reza
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up_date	2024-07-04T02:21:28.989Z
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Immunodeficiency due to a novel variant in PIK3CD: a case report

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