PRF1base: Familial haemophagocytic lymphohistiocytosis, type II (FHL2)

Version 1.1 last updated 21 August, 2008 contains 140 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 PRF1base :

Defects in PRF1 are a cause of familial hemophagocytic lymphohistiocytosis type 2, a rare and lethal autosomal recessive disorder of early childhood characterized by excessive immune activation. Patients have a nonmalignant accumulation and multivisceral infiltration of activated T lymphocytes and histiocytes (macrophages).

Other IMT 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: PRF1base