AICDAbase: Non-X-linked hyper-IgM syndrome

Version 1.1 last updated 16 June, 2011 contains 79 public entries


Curated:	Mauno Vihinen and Anne Durandy
Maintained by:	Jouni Väliaho
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Short description of the AICDAbase :

Hyper-IgM syndrome type 2 (HIGM2) is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. There is an absence of immunoglobulin class switch recombination (CSR), a lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers. This is an autosomal recessive disorder responsible for approximately 30% of Ig deficiencies with increased IgM.

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: AICDAbase