1 Schmidt RE, Grimbacher B, Witte T. Autoimmunity and primary immunodeficiency: two sides of the same coin? Nature reviews. Rheumatology. Dec 19 2017;14(1):7–18.
2 Picard C, Bobby Gaspar H, Al-Herz W, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. Journal of clinical immunology. Jan 2018;38(1):96–128.
3 Lyons JJ, Milner JD. Primary atopic disorders. The Journal of experimental medicine. Apr 2 2018;215(4):1009–22.
4 Ma CA, Stinson JR, Zhang Y, et al. Germline hypomorphic CARD11 mutations in severe atopic disease. Nature genetics. Aug 2017;49(8):1192–201.
5 Tangye SG, Pillay B, Randall KL, et al. Dedicator of cytokinesis 8-deficient CD4(+) T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells. The Journal of allergy and clinical immunology. Mar 2017;139(3):933–49.
6 Fenollar F, Puechal X, Raoult D. Whipple’s disease. The New England journal of medicine. Jan 4 2007;356(1):55–66.
7 Guerin A, Kerner G, Marr N, et al. IRF4 haploinsufficiency in a family with Whipple’s disease. eLife. Mar 14 2018;7.
8 Latour S, Aguilar C. XIAP deficiency syndrome in humans. Seminars in cell & developmental biology. Mar 2015;39:115–23.
9 Nielsen OH, LaCasse EC. How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease. Genetics in medicine: official journal of the American College of Medical Genetics. Feb 2017;19(2):133–43.
10 Angelino G, De Angelis P, Faraci S, et al. Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years’ experience. Pediatric allergy and immunology: official publication of the European Society of Pediatric Allergy and Immunology. Dec 2017;28(8):801–9.
11 Uzel G, Orange JS, Poliak N, Marciano BE, Heller T, Holland SM. Complications of tumor necrosis factor-alpha blockade in chronic granulomatous disease-related colitis. Clinical infectious diseases: an official publication of the Infectious Diseases Society of America. Dec 15 2010;51(12):1429–34.
12 Rodero MP, Crow YJ. Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview. The Journal of experimental medicine. Nov 14 2016;213(12):2527–38.
13 Sanchez GAM, Reinhardt A, Ramsey S, et al. JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. The Journal of clinical investigation. Jul 2 2018;128(7):3041–52.
14 Duraisingham SS, Buckland M, Dempster J, Lorenzo L, Grigoriadou S, Longhurst HJ. Primary vs. secondary antibody deficiency: clinical features and infection outcomes of immunoglobulin replacement. PloS one. 2014;9(6):e100324.
15 Slade CA, Bosco JJ, Binh Giang T, et al. Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults. Frontiers in immunology. 2018;9:694.
16 Cantoni N, Recher M. Primary and secondary immunodeficiencies. Therapeutische Umschau. Revue therapeutique. Jan 2014;71(1):31–43.
17 Tangye SG. XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP. Journal of clinical immunology. Oct 2014;34(7):772–9.
18 Schwab C, Gabrysch A, Olbrich P, et al. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. The Journal of allergy and clinical immunology. May 4 2018.
19 Navarini AA, Hruz P, Berger CT, et al. Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis. The Journal of allergy and clinical immunology. Mar 2017;139(3):1043–46 e1045.