Disorders of adaptive immunity

[1]. Amine Bouafia, et al. Loss of ARHGEF1 causes a human primary antibody deficiency. J Clin Invest. 2019 Mar 1;129(3):1047-1060. [Content Brief]

[2]. Andrea Lisco, et al. Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. J Infect Dis. 2021 Feb 24;223(4):645-654. [Content Brief]

[3]. Atar Lev, et al. Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects. J Exp Med. 2021 Mar 1;218(3):e20201062. [Content Brief]

[4]. Baerbel Keller, et al. Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT. J Exp Med. 2016 Jun 27;213(7):1185-99. [Content Brief]

[5]. Behdad Afzali, et al. BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. Nat Immunol. 2017 Jul;18(7):813-823. [Content Brief]

[6]. Benjamin Fournier, et al. DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity. J Allergy Clin Immunol. 2021 Feb;147(2):740-743.e9. [Content Brief]

[7]. Chantal Lagresle-Peyrou, et al. X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. [Content Brief]

[8]. Christine McCusker, et al. Primary immunodeficiency. Allergy Asthma Clin Immunol. 2011 Nov 10;7 Suppl 1(Suppl 1):S11. [Content Brief]

[9]. Haifa H Jabara, et al. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan;48(1):74-8. [Content Brief]

[10]. Huawei Mao, et al. RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. J Allergy Clin Immunol. 2018 Aug;142(2):595-604.e16. [Content Brief]

[11]. James E D Thaventhiran, et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020 Jul;583(7814):90-95. [Content Brief]

[12]. Julien Record, et al. Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. Blood. 2015 Sep 24;126(13):1527-35. [Content Brief]

[13]. Lin Wang, et al. Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. Nat Genet. 2021 Apr;53(4):500-510. [Content Brief]

[14]. Magdalena M Gorska, et al. A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia. Blood. 2012 Feb 9;119(6):1399-406. [Content Brief]

[15]. Marcin Łyszkiewicz, et al. Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells. Nat Commun. 2020 Feb 25;11(1):1031. [Content Brief]

[16]. Motoi Yamashita, et al. A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS. Nat Immunol. 2021 Jul;22(7):893-903. [Content Brief]

[17]. Nigel Sharfe, et al. The effects of RelB deficiency on lymphocyte development and function. J Autoimmun. 2015 Dec;65:90-100. [Content Brief]

[18]. Polina Stepensky, et al. Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. Blood. 2015 Jan 29;125(5):753-61. [Content Brief]

[19]. Sarah A Cook, et al. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 Jul 10;369(6500):202-207. [Content Brief]

[20]. Xiao-Fei Kong, et al. Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency. Nat Immunol. 2018 Sep;19(9):973-985. [Content Brief]