NHEJ1base: Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR

Version 1.0 last updated 16 June, 2011 contains 10 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the NHEJ1base :

Defects in NHEJ1, on chromosome 2q31, are a cause of T and B cell combined immune deficiency. This form of CID is characterized by microcephaly and immunodeficiency characterized by a profound T-and B-lymphocytopenia. Patients display an increased cellular sensitivity to ionizing radiation (IR), a defective V(D)J recombination and an impaired DNA-end ligation process.

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: NHEJ1base