TAP2base: TAP2 deficiency

Version 1.0 last updated 16 June, 2011 contains 4 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the TAP2base :

HLA class I deficiency, also named type I Bare lymphocyte syndrome (BLS), is revealed when HLA class I molecules on lymphocytes cannot be typed by serological techniques due to a low expression of HLA class I molecules on the plasma membrane. This syndrome is caused by any of several defects that result in the lack of cell surface expression of MHC class I or class I and II. It affects both maturation of T cells in the thymus and peripheral immune reactions. The number of well-documented cases of HLA class I molecule deficiencies with normal expression of class II molecules is low.

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: TAP2base