PRF1base: Familial haemophagocytic lymphohistiocytosis, type II (FHL2)

Version 1.1 last updated 16 June, 2011 contains 157 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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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 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: PRF1base