Combined immunodeficiency

[1]. Arvind Kumar, et al. Current perspectives on primary immunodeficiency diseases. Clin Dev Immunol. 2006 Jun-Dec;13(2-4):223-59. [Content Brief]

[2]. Chelisa Cardinez, et al. Gain-of-function IKBKB mutation causes human combined immune deficiency. J Exp Med. 2018 Nov 5;215(11):2715-2724. [Content Brief]

[3]. Emma M Haapaniemi, et al. Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1. J Allergy Clin Immunol. 2017 Apr;139(4):1391-1393.e11. [Content Brief]

[4]. Emmanuel Martin, et al. CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. Nature. 2014 Jun 12;510(7504):288-92. [Content Brief]

[5]. F C Schmalstieg, et al. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. J Clin Invest. 1995 Mar;95(3):1169-73. [Content Brief]

[6]. Fabian Hauck, et al. Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. J Allergy Clin Immunol. 2012 Nov;130(5):1144-1152.e11. [Content Brief]

[7]. Gwilym J Webb, et al. OX40, OX40L and Autoimmunity: a Comprehensive Review. Clin Rev Allergy Immunol. 2016 Jun;50(3):312-32. [Content Brief]

[8]. Haifa H Jabara, et al. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013 Jul;132(1):151-8. [Content Brief]

[9]. International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009 Dec;124(6):1161-78. [Content Brief]

[10]. Juan Manuel Torres, et al. Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity. J Clin Invest. 2014 Dec;124(12):5239-48. [Content Brief]

[11]. Julien Cottineau, et al. Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. J Clin Invest. 2017 May 1;127(5):1991-2006. [Content Brief]

[12]. Kerry Dobbs, et al. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18;372(25):2409-22. [Content Brief]

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

[14]. Megan S Lim, et al. The molecular pathology of primary immunodeficiencies. J Mol Diagn. 2004 May;6(2):59-83. [Content Brief]

[15]. Polina Stepensky, et al. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. J Allergy Clin Immunol. 2013 Feb;131(2):477-85.e1. [Content Brief]

[16]. R M Ten, et al. Primary immunodeficiencies. Mayo Clin Proc. 1998 Sep;73(9):865-72. [Content Brief]

[17]. 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]

[18]. Saba Fekrvand, et al. The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature. Immunol Invest. 2019 May;48(4):410-430. [Content Brief]

[19]. Salla Keskitalo, et al. Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease. NPJ Genom Med. 2019 Jun 27;4:14. [Content Brief]

[20]. Stefan Feske, et al. Immunodeficiency due to mutations in ORAI1 and STIM1. Clin Immunol. 2010 May;135(2):169-82. [Content Brief]