HAX1base: Severe congenital neutropenia (Kostmann disease)

Version 1.1 last updated 21 August, 2008 contains 28 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the HAX1base :

Autosomal dominant or sporadic congenital neutropenia (SCN1) is caused by mutation in the neutrophil elastase gene (ELA2; 130130). Mutations in the protooncogene GFI1 (600871, which targets ELA2, also cause neutropenia (SCN2). As in the case of the ELA2 mutations, those in GFI1 causing neutropenia are heterozygous. Autosomal recessive severe congenital neutropenia (SCN3; 610738) is caused by homozygous mutations in the HAX1 gene. Kostmann disease (SCN3) is characterized by an absolute neutrophil count (ANC) less than 500/mm3. Severe persistent neutropenia results in an increased susceptibility to frequent bacterial infections. The main feature is cytological: granulocyte are blocked at the promyelocytic stage, eosinophilia and monocytosis.

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: HAX1base