GFI1base: Severe congenital neutropenia (SCN); Nonimmune chronic idiopathic neutropenia of adults (NI-CINA)

Version 1.2 last updated 21 August, 2008 contains 5 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the GFI1base :

Defects in protooncogene GFI1, are a cause of autosomal dominant severe congenital neutropenia (SCN). ELA2 mutations cause cyclic hematopoiesis and about two thirds of severe congenital neutropenia (SCN) cases. Mutations in WAS (different from those causing Wiskott-Aldrich thrombocytopenia) also cause severe congenital neutropenia (SCN). Mutations in GFI1 produce immature neutrophils and monocytes. The combined neutropenia and immunodeficiency resembles WHIM ( syndrome of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis), but neutrophils have an undifferentiated appearance different from the hypermature appearance of neutrophils in WHIM syndrome. Neutropenia causing GFI1 causing mutations are heterozygous.

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: GFI1base