IFN-gamma/IL-12 axis

Definition:

The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe susceptibility to mycobacteria and are very difficult to treat. Mutations in IL-12p40 or IL-12R beta 1 are milder clinically and can be treated with IFN-gamma because that receptor is still intact. Complete recessive mutations in STAT1 are more severe than any of the others because they affect both IFN-gamma and IFN-alpha signaling.

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]. Capucine Picard, et al. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015 Nov;35(8):696-726. [Content Brief]

[3]. Jacinta Bustamante, et al. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. J Med Genet. 2007 Feb;44(2):e65. [Content Brief]

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

[5]. 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]

[6]. Saleh Al-Muhsen, et al. The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. J Allergy Clin Immunol. 2008 Dec;122(6):1043-51; quiz 1052-3. [Content Brief]

[7]. Sergio D Rosenzweig, et al. Phagocyte immunodeficiencies and their infections. J Allergy Clin Immunol. 2004 Apr;113(4):620-6. [Content Brief]

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