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Autoimmune lymphoproliferative syndrome; ALPS

Disease ID:977
Name:Autoimmune lymphoproliferative syndrome; ALPS
Associated with:1 target
1 immuno-relevant target
1 immuno-relevant ligand
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


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).


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Ligand References Clinical and Disease comments
Fas ligand 1
Immuno Disease Comments: Type 1b ALPS is caused by mutation of CD95L (Fas ligand).


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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]