Common variable immunodeficiency

[1]. Bodo Grimbacher, et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol. 2003 Mar;4(3):261-8. [Content Brief]

[2]. Elisabeth Salzer, et al. Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. [Content Brief]

[3]. Emanuela Castigli, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005 Aug;37(8):829-34. [Content Brief]

[4]. Frederick D Goldman, et al. Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene. Pediatr Blood Cancer. 2012 Apr;58(4):591-7. [Content Brief]

[5]. Jens Thiel, et al. Genetic CD21 deficiency is associated with hypogammaglobulinemia. J Allergy Clin Immunol. 2012 Mar;129(3):801-810.e6. [Content Brief]

[6]. Joon H Park, et al. Perspectives on common variable immune deficiency. Ann N Y Acad Sci. 2011 Dec;1246:41-9. [Content Brief]

[7]. Karin Chen, et al. Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet. 2013 Nov 7;93(5):812-24. [Content Brief]

[8]. Klaus Warnatz, et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13945-50. [Content Brief]

[9]. Louis-Marie Charbonnier, et al. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 2015 Jan;135(1):217-27. [Content Brief]

[10]. Manfred Fliegauf, et al. Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. Am J Hum Genet. 2015 Sep 3;97(3):389-403. [Content Brief]

[11]. Massimo Morra, et al. Genetic diagnosis of primary immune deficiencies. Immunol Allergy Clin North Am. 2008 May;28(2):387-412, x. [Content Brief]

[12]. Menno C van Zelm, et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med. 2006 May 4;354(18):1901-12. [Content Brief]

[13]. Menno C van Zelm, et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest. 2010 Apr;120(4):1265-74. [Content Brief]

[14]. Michael D Keller, et al. Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. J Allergy Clin Immunol. 2016 Aug;138(2):544-550.e4. [Content Brief]

[15]. Raif S Geha, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007 Oct;120(4):776-94. [Content Brief]

[16]. Taco W Kuijpers, et al. CD20 deficiency in humans results in impaired T cell-independent antibody responses. J Clin Invest. 2010 Jan;120(1):214-22. [Content Brief]