IGHMbase: μ heavy chain deficiency

Version 1.1 last updated 21 August, 2008 contains 20 public entries


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

Defects in the μ heavy-chain gene are a cause of autosomal recessive agammaglobulinemia. Agammaglobulinemia is characterized by failure to produce mature B lymphocyte cells and associated with a failure of Ig heavy chain rearrangement. An intact membrane-bound μ chain is essential for B-cell development. The recessive form is phenotypically identical to XLA but with possible autosomal origin. The μ heavy-chain gene on chromosome 14 is the most frequent abnormality in patients with agammaglobulinemia and decreased B cells who do not have a defect in BTK.

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: IGHMbase