mrjСовременная ревматологияModern Rheumatology Journal1996-70122310-158XIMA-PRESS, LLC10.14412/1996-7012-2025-3-109-114mrj-1783Research ArticleОБЗОРЫREVIEWSАутоиммунные нарушения при первичных иммунодефицитахAutoimmune manifestations in primary immunodeficiencieshttps://orcid.org/0000-0002-0513-6826КаледаМ. И.KaledaM. I.

Мария Игоревна Каледа 

115522, Москва, Каширское шоссе, 34А 

Maria Igorevna Kaleda 

34A, Kashirskoye Shosse, Moscow, 115522 

kaleda-mi@yandex.ruhttps://orcid.org/0000-0003-1842-0348НикишинаИ. П.NikishinaI. P.

115522, Москва, Каширское шоссе, 34А 

34A, Kashirskoye Shosse, Moscow, 115522 

ФГБНУ «Научно-исследовательский институт ревматологии им. В.А. Насоновой»РоссияV.A. Nasonova Research Institute of RheumatologyRussian Federation202524062025193109114Copyright © Каледа М.И., Никишина И.П., 20252025Каледа М.И., Никишина И.П.Kaleda M.I., Nikishina I.P.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://mrj.ima-press.net/mrj/article/view/1783

В соответствии с современными представлениями о механизмах формирования первичных иммунодефицитов (ПИД) и особенностях их течения существует отчетливая и клинически значимая взаимосвязь заболеваний этой группы с аутоиммунными нарушениями (АИН).В статье представлены актуальные данные об АИН у больных ПИД с акцентом на наиболее часто встречающиеся заболевания и основные проявления, которые требуют включения ПИД в круг дифференциально-диагностического поиска у пациента с ревматическим заболеванием.

According to current understanding of the mechanisms underlying primary immunodeficiencies (PIDs) and their clinical course, there is a clear and clinically significant association between this group of disorders and autoimmune manifestations (AIMs).This article presents up-to-date information on AIMs in patients with PIDs, with a focus on the most common conditions and key clinical features that warrant consideration of PIDs in the differential diagnosis of patients with rheumatic diseases.

первичные иммунодефицитыаутоиммунные нарушенияprimary immunodeficienciesautoimmune manifestationsСтатья подготовлена в рамках фундаментальной научной темы №1021051302580-4.The article was prepared within the framework of a basic research project №1021051302580-4.ReferencesFischer A, Provot J, Jais JP, et al; members of the CEREDIH French PID study group. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2017 Nov;140(5):1388-1393.e8. doi: 10.1016/j.jaci.2016.12.978. Epub 2017 Feb 10.Fischer A, Provot J, Jais JP, et al; members of the CEREDIH French PID study group. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2017 Nov;140(5):1388-1393.e8. doi: 10.1016/j.jaci.2016.12.978. Epub 2017 Feb 10.Bousfiha A, Moundir A, Tangye SG, et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022 Oct;42(7):1508- 1520. doi: 10.1007/s10875-022-01352-z. Epub 2022 Oct 6.Bousfiha A, Moundir A, Tangye SG, et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022 Oct;42(7):1508- 1520. doi: 10.1007/s10875-022-01352-z. Epub 2022 Oct 6.Azizi G, Pouyani MR, Abolhassani H, et al. Cellular and molecular mechanisms of immune dysregulation and autoimmunity. Cell Immunol. 2016 Dec:310:14-26. doi: 10.1016/j.cellimm.2016.08.012. Epub 2016 Aug 27.Azizi G, Pouyani MR, Abolhassani H, et al. Cellular and molecular mechanisms of immune dysregulation and autoimmunity. Cell Immunol. 2016 Dec:310:14-26. doi: 10.1016/j.cellimm.2016.08.012. Epub 2016 Aug 27.Grimbacher B, Warnatz K, Yong PFK, et al. The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects. J Allergy Clin Immunol. 2016 Jan;137(1):3-17. doi: 10.1016/j.jaci.2015.11.004.Grimbacher B, Warnatz K, Yong PFK, et al. The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects. J Allergy Clin Immunol. 2016 Jan;137(1):3-17. doi: 10.1016/j.jaci.2015.11.004.Atkinson TP. Immune deficiency and autoimmunity. Curr Opin Rheumatol. 2012 Sep;24(5):515-21. doi: 10.1097/BOR.0b013e32835680c6.Atkinson TP. Immune deficiency and autoimmunity. Curr Opin Rheumatol. 2012 Sep;24(5):515-21. doi: 10.1097/BOR.0b013e32835680c6.Azizi G, Ziaee V, Tavakol M, et al. Approach to the Management of Autoimmunity in Primary Immunodeficiency. Scand J Immunol. 2017 Jan;85(1):13-29. doi: 10.1111/sji.12506.Azizi G, Ziaee V, Tavakol M, et al. Approach to the Management of Autoimmunity in Primary Immunodeficiency. Scand J Immunol. 2017 Jan;85(1):13-29. doi: 10.1111/sji.12506.Westerberg LS, Klein C, Snapper SB. Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency – lessons learned from monogenic disorders in mice and men. Curr Opin Immunol. 2008 Dec;20(6): 646-54. doi: 10.1016/j.coi.2008.10.004. Epub 2008 Nov 12.Westerberg LS, Klein C, Snapper SB. Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency – lessons learned from monogenic disorders in mice and men. Curr Opin Immunol. 2008 Dec;20(6): 646-54. doi: 10.1016/j.coi.2008.10.004. Epub 2008 Nov 12.Anaya JM. The autoimmune tautology. A summary of evidence. Joint Bone Spine. 2017 May;84(3):251-253. doi: 10.1016/j.jbspin.2016.11.012. Epub 2016 Dec 23.Anaya JM. The autoimmune tautology. A summary of evidence. Joint Bone Spine. 2017 May;84(3):251-253. doi: 10.1016/j.jbspin.2016.11.012. Epub 2016 Dec 23.Abolhassani H, Gharib B, Shahinpour S, et al. Autoimmunity in patients with selective IgA deficiency. J Investig Allergol Clin Immunol. 2015;25(2):112-9Abolhassani H, Gharib B, Shahinpour S, et al. Autoimmunity in patients with selective IgA deficiency. J Investig Allergol Clin Immunol. 2015;25(2):112-9Kaplan MY, Ozen S, Akcal O, et al. Autoimmune and inflammatory manifestations in pediatric patients with primary immunodeficiencies and their importance as a warning sign. Allergol Immunopathol (Madr). 2020 Nov-Dec;48(6):701-710. doi: 10.1016/j.aller.2020.02.009. Epub 2020 May 20.Kaplan MY, Ozen S, Akcal O, et al. Autoimmune and inflammatory manifestations in pediatric patients with primary immunodeficiencies and their importance as a warning sign. Allergol Immunopathol (Madr). 2020 Nov-Dec;48(6):701-710. doi: 10.1016/j.aller.2020.02.009. Epub 2020 May 20.Baris HE, Kiyk m A, Nain E, et al. The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency. Turk Pediatri Ars. 2016 Dec 1;51(4):186-192. doi: 10.5152/TurkPediatriArs.2016.3928. eCollection 2016 Dec.Baris HE, Kiyk m A, Nain E, et al. The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency. Turk Pediatri Ars. 2016 Dec 1;51(4):186-192. doi: 10.5152/TurkPediatriArs.2016.3928. eCollection 2016 Dec.Tahiat A, Yagoubi A, Ladj MS, et al. Diagnostic and Predictive Contribution of Autoantibodies Screening in a Large Series of Patients With Primary Immunodeficiencies. Front Immunol. 2021 Apr 1:12:665322. doi: 10.3389/fimmu.2021.665322. eCollection 2021.Tahiat A, Yagoubi A, Ladj MS, et al. Diagnostic and Predictive Contribution of Autoantibodies Screening in a Large Series of Patients With Primary Immunodeficiencies. Front Immunol. 2021 Apr 1:12:665322. doi: 10.3389/fimmu.2021.665322. eCollection 2021.Westermann-Clark E, Meehan CA, Meyer AK, et al. Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort. Front Immunol. 2021 Apr 22:12:649182. doi: 10.3389/fimmu.2021.649182. eCollection 2021.Westermann-Clark E, Meehan CA, Meyer AK, et al. Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort. Front Immunol. 2021 Apr 22:12:649182. doi: 10.3389/fimmu.2021.649182. eCollection 2021.Patuzzo G, Barbieri A, Tinazzi E, et al. Autoimmunity and infection in common variable immunodeficiency (CVID). Autoimmun Rev. 2016 Sep;15(9):877-82. doi: 10.1016/j.autrev.2016.07.011. Epub 2016 Jul 6.Patuzzo G, Barbieri A, Tinazzi E, et al. Autoimmunity and infection in common variable immunodeficiency (CVID). Autoimmun Rev. 2016 Sep;15(9):877-82. doi: 10.1016/j.autrev.2016.07.011. Epub 2016 Jul 6.Sudhakar M, Rikhi R, Loganathan SK, et al. Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives. Appl Clin Genet. 2021 Aug 20:14:363-388. doi: 10.2147/TACG.S213920. eCollection 2021.Sudhakar M, Rikhi R, Loganathan SK, et al. Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives. Appl Clin Genet. 2021 Aug 20:14:363-388. doi: 10.2147/TACG.S213920. eCollection 2021.Odineal DD, Gershwin ME. The Epidemiology and Clinical Manifestations of Autoimmunity in Selective IgA Deficiency. Clin Rev Allergy Immunol. 2020 Feb;58(1):107-133. doi: 10.1007/s12016-019-08756-7.Odineal DD, Gershwin ME. The Epidemiology and Clinical Manifestations of Autoimmunity in Selective IgA Deficiency. Clin Rev Allergy Immunol. 2020 Feb;58(1):107-133. doi: 10.1007/s12016-019-08756-7.Boyle RJ, Le C, Balloch A, Tang ML. The clinical syndrome of specific antibody deficiency in children. Clin Exp Immunol. 2006 Dec;146(3):486-92. doi: 10.1111/j.1365-2249.2006.03242.x.Boyle RJ, Le C, Balloch A, Tang ML. The clinical syndrome of specific antibody deficiency in children. Clin Exp Immunol. 2006 Dec;146(3):486-92. doi: 10.1111/j.1365-2249.2006.03242.x.Jara LJ, Medina G, Saavedra MA. Autoimmune manifestations of infections. Curr Opin Rheumatol. 2018 Jul;30(4):373-379. doi: 10.1097/BOR.0000000000000505.Jara LJ, Medina G, Saavedra MA. Autoimmune manifestations of infections. Curr Opin Rheumatol. 2018 Jul;30(4):373-379. doi: 10.1097/BOR.0000000000000505.Modell V, Orange JS, Quinn J, Modell F. Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes. Immunol Res. 2018 Jun;66(3):367-380. doi: 10.1007/s12026-018-8996-5.Modell V, Orange JS, Quinn J, Modell F. Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes. Immunol Res. 2018 Jun;66(3):367-380. doi: 10.1007/s12026-018-8996-5.Bonilla FA, Khan DA, Ballas ZK, et al; Joint Task Force on Practice Parameters, representing the American Academy of Allergy, Asthma & Immunology; the American College of Allergy, Asthma & Immunology; and the Joint Council of Allergy, Asthma & Immunology. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov; 136(5):1186-205.e1-78. doi: 10.1016/j.jaci.2015.04.049. Epub 2015 Sep 12.Bonilla FA, Khan DA, Ballas ZK, et al; Joint Task Force on Practice Parameters, representing the American Academy of Allergy, Asthma & Immunology; the American College of Allergy, Asthma & Immunology; and the Joint Council of Allergy, Asthma & Immunology. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov; 136(5):1186-205.e1-78. doi: 10.1016/j.jaci.2015.04.049. Epub 2015 Sep 12.Gathmann B, Mahlaoui N, Gerard L, et al; CEREDIH. European Society for Immunodeficiencies Registry Working Party. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014 Jul;134(1):116-26. doi: 10.1016/j.jaci.2013.12.1077. Epub 2014 Feb 28.Gathmann B, Mahlaoui N, Gerard L, et al; CEREDIH. European Society for Immunodeficiencies Registry Working Party. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014 Jul;134(1):116-26. doi: 10.1016/j.jaci.2013.12.1077. Epub 2014 Feb 28.Chapel H, Lucas M, Patel S, et al. Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts. J Allergy Clin Immunol. 2012 Nov;130(5): 1197-1198.e9. doi: 10.1016/j.jaci.2012.05.046. Epub 2012 Jul 20.Chapel H, Lucas M, Patel S, et al. Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts. J Allergy Clin Immunol. 2012 Nov;130(5): 1197-1198.e9. doi: 10.1016/j.jaci.2012.05.046. Epub 2012 Jul 20.Azizi G, Kiaee F, Hedayat E, et al. Rheumatologic complications in a cohort of 227 patients with common variable immunodeficiency. Scand J Immunol. 2018 May;87(5): e12663. doi: 10.1111/sji.12663.Azizi G, Kiaee F, Hedayat E, et al. Rheumatologic complications in a cohort of 227 patients with common variable immunodeficiency. Scand J Immunol. 2018 May;87(5): e12663. doi: 10.1111/sji.12663.Gutierrez MJ, Sullivan KE, Fuleihan R, Bingham CO 3rd; USIDNET Consortium. Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency. Semin Arthritis Rheum. 2018 Oct;48(2):318-326. doi: 10.1016/j.semarthrit.2018.02.013. Epub 2018 Feb 23.Gutierrez MJ, Sullivan KE, Fuleihan R, Bingham CO 3rd; USIDNET Consortium. Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency. Semin Arthritis Rheum. 2018 Oct;48(2):318-326. doi: 10.1016/j.semarthrit.2018.02.013. Epub 2018 Feb 23.Bogaert DJ, Dullaers M, Lambrecht BN, et al. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet. 2016 Sep;53(9):575-90. doi: 10.1136/jmedgenet-2015-103690. Epub 2016 Jun 1.Bogaert DJ, Dullaers M, Lambrecht BN, et al. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet. 2016 Sep;53(9):575-90. doi: 10.1136/jmedgenet-2015-103690. Epub 2016 Jun 1.Fraczek P, Szczepanek M, Tabarkiewicz J. Coincidence of selective immunoglobulin A deficiency in juvenile idiopathic arthritis – a series of three cases. Cent Eur J Immunol. 2021; 46(4):531-534. doi: 10.5114/ceji.2021.111200. Epub 2021 Dec 6.Fraczek P, Szczepanek M, Tabarkiewicz J. Coincidence of selective immunoglobulin A deficiency in juvenile idiopathic arthritis – a series of three cases. Cent Eur J Immunol. 2021; 46(4):531-534. doi: 10.5114/ceji.2021.111200. Epub 2021 Dec 6.Swain S, Selmi C, Gershwin ME, Teuber SS. The clinical implications of selective IgA deficiency. J Transl Autoimmun. 2019 Nov 23:2:100025. doi: 10.1016/j.jtauto.2019.100025. eCollection 2019 Dec.Swain S, Selmi C, Gershwin ME, Teuber SS. The clinical implications of selective IgA deficiency. J Transl Autoimmun. 2019 Nov 23:2:100025. doi: 10.1016/j.jtauto.2019.100025. eCollection 2019 Dec.Ludvigsson JF, Neovius M, Hammarström L. Association between IgA deficiency & other autoimmune conditions: a population-based matched cohort study. J Clin Immunol. 2014;34(4):444-51. doi: 10.1007/s10875-014-0009-4Ludvigsson JF, Neovius M, Hammarström L. Association between IgA deficiency & other autoimmune conditions: a population-based matched cohort study. J Clin Immunol. 2014;34(4):444-51. doi: 10.1007/s10875-014-0009-4Wang N, Shen N, Vyse TJ, et al. Selective IgA deficiency in autoimmune diseases. Mol Med. 2011;17(11-12):1383-96. doi: 10.2119/molmed.2011.00195. Epub 2011 Aug 4.Wang N, Shen N, Vyse TJ, et al. Selective IgA deficiency in autoimmune diseases. Mol Med. 2011;17(11-12):1383-96. doi: 10.2119/molmed.2011.00195. Epub 2011 Aug 4.Hirbod-Mobarakeh A, Aghamohammadi A, Rezaei N. Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again. Expert Rev Clin Immunol. 2014 Jan;10(1):91-105. doi: 10.1586/1744666X.2014.864554. Epub 2013 Nov 26.Hirbod-Mobarakeh A, Aghamohammadi A, Rezaei N. Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again. Expert Rev Clin Immunol. 2014 Jan;10(1):91-105. doi: 10.1586/1744666X.2014.864554. Epub 2013 Nov 26.Leven EA, Maffucci P, Ochs HD, et al. Hyper IgM Syndrome: a Report from the USIDNET Registry. J Clin Immunol. 2016 Jul;36(5):490-501. doi: 10.1007/s10875-016-0291-4. Epub 2016 May 17.Leven EA, Maffucci P, Ochs HD, et al. Hyper IgM Syndrome: a Report from the USIDNET Registry. J Clin Immunol. 2016 Jul;36(5):490-501. doi: 10.1007/s10875-016-0291-4. Epub 2016 May 17.Banday AZ, Nisar R, Patra PK, et al. Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency. J Clin Immunol. 2023 Dec 22;44(1):17. doi: 10.1007/s10875-023-01633-1.Banday AZ, Nisar R, Patra PK, et al. Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency. J Clin Immunol. 2023 Dec 22;44(1):17. doi: 10.1007/s10875-023-01633-1.Coulter TI, Chandra A, Bacon CM, et al. Clinical spectrum and features of activated phosphoinositide 3-kinase syndrome: A large patient cohort study. J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.Coulter TI, Chandra A, Bacon CM, et al. Clinical spectrum and features of activated phosphoinositide 3-kinase syndrome: A large patient cohort study. J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.Dorjbal B, Stinson JR, Ma CA, et al. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28.Dorjbal B, Stinson JR, Ma CA, et al. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28.Sharifinejad N, Azizi G, Chavoshzadeh Z, et al. Autoimmunity in monogenic combined immune deficiencies with associated or syndromic features. Front Immunol. 2022 Dec 5:13:1023127. doi:10.3389/fimmu.2022.1023127. eCollection 2022.Sharifinejad N, Azizi G, Chavoshzadeh Z, et al. Autoimmunity in monogenic combined immune deficiencies with associated or syndromic features. Front Immunol. 2022 Dec 5:13:1023127. doi:10.3389/fimmu.2022.1023127. eCollection 2022.Tison BE, Nicholas SK, Abramson SL, et al. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. J Allergy Clin Immunol. 2011 Nov; 128(5):1115-7.e1-3. doi: 10.1016/j.jaci.2011.06.043. Epub 2011 Aug 11.Tison BE, Nicholas SK, Abramson SL, et al. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. J Allergy Clin Immunol. 2011 Nov; 128(5):1115-7.e1-3. doi: 10.1016/j.jaci.2011.06.043. Epub 2011 Aug 11.Montin D, Marolda A, Licciardi F, et al. Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome. J Allergy Clin Immunol Pract. 2019 Sep-Oct;7(7):2369-2376. doi: 10.1016/j.jaip.2019.03.014. Epub 2019 Mar 26.Montin D, Marolda A, Licciardi F, et al. Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome. J Allergy Clin Immunol Pract. 2019 Sep-Oct;7(7):2369-2376. doi: 10.1016/j.jaip.2019.03.014. Epub 2019 Mar 26.Sudhakar M, Rikhi R, Loganathan SK, et al. Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives. Appl Clin Genet. 2021 Aug 20:14:363-388. doi: 10.2147/TACG.S213920. eCollection 2021.Sudhakar M, Rikhi R, Loganathan SK, et al. Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives. Appl Clin Genet. 2021 Aug 20:14:363-388. doi: 10.2147/TACG.S213920. eCollection 2021.Cannioto Z, Berti I, Martelossi S, et al. IBD and IBD mimicking enterocolitis in children younger than 2 years of age. Eur J Pediatr. 2009 Feb;168(2):149-55. doi: 10.1007/s00431-008-0721-2. Epub 2008 Jun 11.Cannioto Z, Berti I, Martelossi S, et al. IBD and IBD mimicking enterocolitis in children younger than 2 years of age. Eur J Pediatr. 2009 Feb;168(2):149-55. doi: 10.1007/s00431-008-0721-2. Epub 2008 Jun 11.Ohya T, Yanagimachi M, Iwasawa K, et al. Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene. World J Gastroenterol. 2017 Dec 28;23(48):8544-8552. doi: 10.3748/wjg.v23.i48.8544.Ohya T, Yanagimachi M, Iwasawa K, et al. Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene. World J Gastroenterol. 2017 Dec 28;23(48):8544-8552. doi: 10.3748/wjg.v23.i48.8544.Monteferrante G, Giani M, van den Heuvel M. Systemic lupus erythematosus and Wiskott-Aldrich syndrome in an Italian patient. Lupus. 2009 Mar;18(3):273-7. doi: 10.1177/0961203308095000.Monteferrante G, Giani M, van den Heuvel M. Systemic lupus erythematosus and Wiskott-Aldrich syndrome in an Italian patient. Lupus. 2009 Mar;18(3):273-7. doi: 10.1177/0961203308095000.Moratto D, Giliani S, Bonfim C, et al. Long-term outcome and lineage-specific chimerism in 194 patients with WiskottAldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood. 2011 Aug 11;118(6):1675-84. doi: 10.1182/blood-2010-11-319376. Epub 2011 Jun 9.Moratto D, Giliani S, Bonfim C, et al. Long-term outcome and lineage-specific chimerism in 194 patients with WiskottAldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood. 2011 Aug 11;118(6):1675-84. doi: 10.1182/blood-2010-11-319376. Epub 2011 Jun 9.Brodszki N, Frazer-Abel A, Grumach AS, et al. European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management. J Clin Immunol. 2020 May;40(4):576-591. doi: 10.1007/s10875-020-00754-1. Epub 2020 Feb 17.Brodszki N, Frazer-Abel A, Grumach AS, et al. European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management. J Clin Immunol. 2020 May;40(4):576-591. doi: 10.1007/s10875-020-00754-1. Epub 2020 Feb 17.Wang SSY, Tang H, Loe MWC, et al. Complements and Their Role in Systemic Disorders. Cureus. 2024 Jan 26;16(1):e52991. doi: 10.7759/cureus.52991. eCollection 2024 Jan.Wang SSY, Tang H, Loe MWC, et al. Complements and Their Role in Systemic Disorders. Cureus. 2024 Jan 26;16(1):e52991. doi: 10.7759/cureus.52991. eCollection 2024 Jan.Stegert M, Bock M, Trendelenburg M. Clinical presentation of human C1q deficiency: How much of a lupus? Mol Immunol. 2015 Sep;67(1):3-11. doi: 10.1016/j.molimm.2015.03.007. Epub 2015 Apr 3.Stegert M, Bock M, Trendelenburg M. Clinical presentation of human C1q deficiency: How much of a lupus? Mol Immunol. 2015 Sep;67(1):3-11. doi: 10.1016/j.molimm.2015.03.007. Epub 2015 Apr 3.McGonagle D, McDermott MF. A proposed classification of the immunological diseases. PLoS Med. 2006 Aug;3(8):e297. doi: 10.1371/journal.pmed.0030297.McGonagle D, McDermott MF. A proposed classification of the immunological diseases. PLoS Med. 2006 Aug;3(8):e297. doi: 10.1371/journal.pmed.0030297.Yamazaki-Nakashimada MA, SantosChavez EE, de Jesus AA, et al. Systemic Autoimmunity in a Patient With CANDLE Syndrome. J Investig Allergol Clin Immunol. 2019 Feb;29(1):75-76. doi: 10.18176/jiaci.0338.Yamazaki-Nakashimada MA, SantosChavez EE, de Jesus AA, et al. Systemic Autoimmunity in a Patient With CANDLE Syndrome. J Investig Allergol Clin Immunol. 2019 Feb;29(1):75-76. doi: 10.18176/jiaci.0338.Lamas A, Faria R, Marinho A, Vasconcelos C. The mosaic of systemic lupus erythematosus: From autoimmunity to autoinflammation and immunodeficiency and back. Autoimmun Rev. 2024 Dec;23(12):103675. doi: 10.1016/j.autrev.2024.103675. Epub 2024 Oct 29Lamas A, Faria R, Marinho A, Vasconcelos C. The mosaic of systemic lupus erythematosus: From autoimmunity to autoinflammation and immunodeficiency and back. Autoimmun Rev. 2024 Dec;23(12):103675. doi: 10.1016/j.autrev.2024.103675. Epub 2024 Oct 29

The authors declare that there are no conflicts of interest present.