STAT1base: STAT1 deficiency

Version 1.1 last updated 21 August, 2008 contains 7 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
About database:	How to cite
	Copyright notice
	Database policy
	Liability statement
	Recommendations and standards followed

Short description of the STAT1base :

The clinical syndrome is rare and is due to impaired immunity against mycobacteria. Parental cosanguinity and familial forms are frequent and the syndrome is often described as Mendelian suscepitibility to mycobacterial infection. STAT1 deficiency is associated with susceptibility to mycobacterial but not viral immunodeficiency. This mutation causes a loss of GAF and ISGF3 activation but is dominant for one cellular phenotype and recessive for the other. It impairs the nuclear accumulation of GAF but not of ISGF3 in heterozygous cells stimulated by IFNs.

Other IMT services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome - Database for genes and proteins of the Human Immune System
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: STAT1base