IL12RB1base: Interleukin-12 receptor β1 deficiency

Version 1.1 last updated 16 June, 2011 contains 58 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the IL12RB1base :

IL12 is a cytokine secreted by phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of two subunits encoded by IL12A and IL12B. The clinical syndrome is rare and its inheritance may differ between kindreds. Although autosomal recessive in most cases, autosomal dominant and X-linked recessive inheritance have been reported. These disorders generally manifest in childhood, although they may become apparent during adulthood. IL12RB1 deficiency is associated with immunity impairment which leads to a predisposition to severe mycobacterial and salmonella infections in otherwise healthy individuals.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: IL12RB1base