Summary Literature (0)

DOID:0110116 - autoimmune lymphoproliferative syndrome type 2B

Disease Ontology Definition:An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33.

Synonyms: ALPS with recurrent viral infections, ALPS2B, CEDS, Caspase 8 deficiency, Caspase 8 deficiency syndrome, Caspase eight deficiency state, autoimmune lymphoproliferative syndrome type IIB, autoimmune lymphoproliferative syndrome with recurrent viral infections,

Echinobase Genes :


OMIM:

MIM:607271 - caspase 8 deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee