1. Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2022; 42: 1473-507.
2.
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; 42: 1508-20.
3.
Cossu F. Genetics of SCID. Ital J Pediatr 2010; 36: 76.
4.
Bradford KL, Moretti FA, Carbonaro-Sarracino DA, et al. Adenosine deaminase (ADA)-deficient severe combined immune deficiency (SCID): molecular pathogenesis and clinical manifestations. J Clin Immunol 2017; 37: 626-37.
5.
Yazdani R, Fekrvand S, Shahkarami S, et al. The hyper IgM syndromes: epidemiology, pathogenesis, clinical manifestations, diagnosis and management. Clin Immunol 2019; 198: 19-30.
6.
Peacock M, Arce R, Cutler C. Periodontal and other oral manifestations of immunodeficiency diseases. Oral Diseases 2017; 23: 866-88.
7.
Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci 2013; 1285: 26-43.
8.
Zhang L, Li YY, Tang X, Zhao X. Faecal microbial dysbiosis in children with Wiskott-Aldrich syndrome. Scand J Immunol 2020; 91: e12805.
9.
Biggs SE, Gilchrist B, May KR. Chromosome 22q11.2 deletion (DiGeorge syndrome): immunologic features, diagnosis, and management. Curr Allergy Asthma Rep 2023; 23: 213-22.
10.
Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011; 159: 332-9.
11.
Mohammadi F, Yadegar A, Mardani M, et al. Organ‐based clues for diagnosis of inborn errors of immunity: a practical guide for clinicians. Immun Inflamm Dis 2023; 11: e833.
12.
Cardenas-Morales M, Hernandez-Trujillo VP. Agammaglobulinemia: from X-linked to autosomal forms of disease. Clin Rev Allergy Immunol 2022; 63: 22-35.
13.
Malamut G, Verkarre V, Suarez F, et al. The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. Am J Gastroenterol 2010; 105: 2262-75.
14.
Uzzan M, Ko HM, Mehandru S, et al. Gastrointestinal disorders associated with common variable immune deficiency (CVID) and chronic granulomatous disease (CGD). Curr Gastroenterol Rep 2016; 18: 17.
15.
Malesza IJ, Malesza M, Krela-Kaźmierczak I, et al. Primary humoral immune deficiencies: overlooked mimickers of chronic immune-mediated gastrointestinal diseases in adults. Int J Mol Sci 2020; 21: 5223.
16.
Swain S, Selmi C, Gershwin ME, et al. The clinical implications of selective IgA deficiency. J Transl Autoimmunity 2019; 2: 100025.
17.
Justiz-Vaillant AA, Hoyte T, Davis N, et al. A systematic review of the clinical diagnosis of transient hypogammaglobulinemia of infancy. Children 2023; 10: 1358.
18.
Justiz Vaillant AA, Wilson AM. Transient hypogammaglobulinemia of infancy. StatPearls, Treasure Island (FL): StatPearls Publishing 2024.
19.
Husebye ES, Anderson MS, Kämpe O. Autoimmune polyendocrine syndromes. N Engl J Med 2018; 378: 1132-41.
20.
Bjørklund G, Pivin M, Hangan T, et al. Autoimmune polyendocrine syndrome type 1: clinical manifestations, pathogenetic features, and management approach. Autoimmun Rev 2022; 21: 103135.
21.
Sharifinejad N, Zaki-Dizaji M, Sepahvandi R, et al. The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review. Clin Exp Immunol 2022; 208: 281-91.
22.
Boland BS, Widjaja CE, Banno A, et al. Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency. J Immunol 2015; 194: 2551-60.
23.
Kotlarz D, Marquardt B, Barøy T, et al. Human TGF-b1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nat Genet 2018; 50: 344-8.
24.
Li Y, Führer M, Bahrami E, et al. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. Proc Natl Acad Sci USA 2019; 116: 970-5.
25.
Takahashi N, Vereecke L, Bertrand MJM, et al. RIPK1 ensures intestinal homeostasis by protecting the epithelium against apoptosis. Nature 2014; 513: 95-9.
26.
Olyha SJ, O’Connor SK, Kribis M, et al. Deficiency in ELF4, X-linked”: a monogenic disease entity resembling Behçet’s syndrome and inflammatory bowel disease. J Clin Immunol 2024; 44: 44.
27.
Sun G, Wu M, Lv Q, et al. A multicenter cohort study of immune dysregulation disorders caused by ELF4 variants in China. J Clin Immunol 2023; 43: 933-9.
28.
Matson DR, Yang DT. Autoimmune lymphoproliferative syndrome: an overview. Arch Pathol Lab Med 2020; 144: 245-51.
29.
Bleesing JJ, Nagaraj CB, Zhang K. Autoimmune lymphoproliferative syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews®, Seattle (WA): University of Washington, Seattle; 1993.