BIRC4base: X-linked lymphoproliferative syndrome

Version 1.0 last updated 8 April, 2013 contains 19 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the BIRC4base :

The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency that is characterized by lymphohystiocytosis, hypogammaglobulinaemia and lymphomas, and that usually develops in response to infection with Epstein-Barr virus (EBV). Mutations in the signalling lymphocyte activation molecule (SLAM)-associated protein SAP, a signalling adaptor molecule, underlie 60% of cases of familial XLP. Another procent of cases is due to defects in in the gene that encodes the X-linked inhibitor-of-apoptosis XIAP (BIRC4) required for the survival and/or differentiation of NKT cells and also a potent regulator of lymphocyte homeostasis in vivo. BIRC4 are the cause of lymphoproliferative syndrome x-linked type 2 (XLP2).

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: BIRC4base