NPbase: PNP deficiency

Version 1.2 last updated 16 June, 2011 contains 16 public entries


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

Defects in NP are the cause of a severe T-cell immunodeficiency with neurologic disorder in children. It is an autosomal recessive disorders with decreased T cells and lymphopenia and antibody deficiency. The enzyme deficiency result in accumulation of toxic metabolites for T-cell development.

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: NPbase