Combined immunodeficiency

Definition:

The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell (and sometimes NK- cell) function. Hyper-IgM syndrome (HIM) represents a group of distinct entities characterized by defective normal or elevated IgM in the presence of diminished IgG and IgA levels. The genetic anomaly in X-linked hyper-IgM syndrome has been mapped to Xq26, and resides in mutations of the CD40 ligand gene. ZAP-70 deficiency is inherited in an autosomal recessive manner. Recurrent and opportunistic infections occur within the first year of life. The mutations in genes responsible for CRAC channel function, ORAI1 and STIM1, cause the defect in Ca2+ influx.

References:

[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]

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