Autoimmune lymphoproliferative syndrome; ALPS

Disease ID:977
Name:Autoimmune lymphoproliferative syndrome; ALPS
Associated with:1 target
1 immuno-relevant target
1 immuno-relevant ligand
Description
ALPS covers a set of heterogenic heritable conditions characterised by a failure of apoptosis, that results in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias. Genes carrying ALPS-causing mutations include Fas receptor (type IA), fas ligand (type IB), caspase 10 (type IIA), caspase 8 (type IIB), PRKCD (ALPS3), NRAS (ALPS4) and CTLA4 (ALPS5).
Database Links
Disease Ontology: DOID:6688
OMIM: 601859
Orphanet: ORPHA3261

Targets

Fas
Comments:  Type IA ALPS is caused by mutations in Fas receptor (CD95).
Ligand interactions: 
Ligand Comments
Fas ligand
Type 1b ALPS is caused by mutation of CD95L (Fas ligand).

Ligands

Key to terms and symbols Click ligand name to view ligand summary Click column headers to sort
Ligand References Clinical and Disease comments
Fas ligand 1
Immuno Disease Comments: Type 1b ALPS is caused by mutation of CD95L (Fas ligand).

References

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1. Bidère N, Su HC, Lenardo MJ. (2006) Genetic disorders of programmed cell death in the immune system. Annu. Rev. Immunol., 24: 321-52. [PMID:16551252]