Gastrointestinal |
Celiac disease and "celiac-like disease," IBD and IBD-like, atrophic gastritis, pernicious anemia, autoimmune enteropathy, sclerosing cholangitis, autoimmune hepatitis, granulomatous hepatitis, granulomatous colitis and enteritis, ulcers, exocrine pancreatic insufficiency.2323 Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40:66-81.
24 de Vries E. European Society for Immunodeficiencies (ESID) members. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012;167:108-19.
25 Schwimmer D, Glover S. Primary immunodeficiency and the gut. Gastroenterol Clin N Am. 2019;48:199-220.-2626 Hartono S, Ippoliti MR, Mastroianni M, Torres R, Rider NL. Gastrointestinal disorders associated with primary immunodeficiency diseases. Clin Rev Allergy Immunol. 2019;57:145-65.
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Cutaneous/hair and nail |
Extensive and severe eczema, erythroderma, alopecia, eyebrow loss, pachydermia, trichorrhexis invaginata (bamboo hair), granulomas, ectodermal dysplasia (skin, nail, hair, and teeth), delayed wound healing, vasculitis, vitiligo, ocular-cutaneous albinism, telangiectasias (ocular-cutaneous), angioedema without urticaria, urticaria (especially neutrophilic), generalized pustular psoriasis, congenital livedo, severe acne associated with gangrenous pyoderma.2323 Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40:66-81.,2424 de Vries E. European Society for Immunodeficiencies (ESID) members. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012;167:108-19.,2727 de Wit J, Brada RJK, van Veldhuizen J, Dalm VASH, Pasmans SGMA. Skin disorders are prominent features in primary immunodeficiency diseases: a systematic overview of current data. Allergy. 2019;74:464-82.
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Respiratory |
Interstitial lung disease, granulomatous lymphocytic interstitial lung disease, bronchiolitis obliterans, alveolar proteinosis, bronchiectasis.2323 Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40:66-81.,2424 de Vries E. European Society for Immunodeficiencies (ESID) members. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012;167:108-19.,2828 Soler-Palacín P, de Gracia J, González-Granado LI, Martín C, Rodríguez-Gallego C, Sánchez-Ramón S, et al. Primary immunodeficiency diseases in lung disease: warning signs, diagnosis and management. Respir Res. 2018;19:219.
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Neurological |
Ataxia, delayed neuropsychomotor development, microcephaly, mental retardation, neurosensory deafness, transient or early onset ischemic stroke, nystagmus, aseptic meningitis, autoimmune encephalitis, early onset encephalopathy.2323 Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40:66-81.,2424 de Vries E. European Society for Immunodeficiencies (ESID) members. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012;167:108-19.,2929 Chavoshzadeh Z, Hashemitari A, Darougar S. Neurological manifestations of primary immunodeficiencies. Iran J Child Neurol. 2018;12:7-23.
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Hematologic |
Immune thrombocytopenic purpura, autoimmune hemolytic anemia, Evans syndrome, small platelet thrombocytopenia, neutropenia, neutrophilia, eosinophilia, hemophagocytic lymphohistiocytosis, lymphomas, myelodysplasia.2323 Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40:66-81.,2424 de Vries E. European Society for Immunodeficiencies (ESID) members. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012;167:108-19.,3030 Sánchez-Ramón S, Bermúdez A, González-Granado LI, Rodríguez-Gallego C, Sastre A, Soler-Palacín P, et al. Primary and secondary immunodeficiency diseases in oncohaematology: warning signs, diagnosis, and management. Front Immunol. 2019;10:586.
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Rheumatologic |
Arthritis, systemic lupus erythematosus, juvenile idiopathic arthritis.2323 Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40:66-81.,2424 de Vries E. European Society for Immunodeficiencies (ESID) members. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012;167:108-19.,3131 Kitcharoensakkul M, Coopera MA. Rheumatologic and autoimmune manifestations in primary immune deficiency. Curr Opin Allergy Clin Immunol. 2019;19:545-52.
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Others |
Thymic aplasia, lymphoproliferative syndromes, absence of tonsils or ganglia, malnutrition, recurrent serositis, dysmorphisms, malformations, TORCH-like syndrome, type I diabetes mellitus, thyroiditis, hypoparathyroidism, adrenal insufficiency.2323 Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40:66-81.,2424 de Vries E. European Society for Immunodeficiencies (ESID) members. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012;167:108-19.
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