DCLRE1Cbase: Artemis deficiency

Version 1.1 last updated 16 June, 2011 contains 55 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the DCLRE1Cbase :

Artemis deficiency is included in the most severe phenotype, T-B- SCID and it is inherited as an autosomal recessive trait. The disease is characterized by a profound deficiency of both T cell and B cell immunity. It is caused by a mutation of Artemis gene which codes for a novel V(D)J recombination/DNA repair factor that belongs to the metallo-lactamase superfamily.

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: DCLRE1Cbase