Term Name: | autoimmune lymphoproliferative syndrome type 2B |
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Synonyms: | ALPS with recurrent viral infections, ALPS2B, autoimmune lymphoproliferative syndrome type IIB, autoimmune lymphoproliferative syndrome with recurrent viral infections, Caspase 8 deficiency, Caspase 8 deficiency syndrome, Caspase eight deficiency state, CEDS |
Definition: | An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. |
Ontology: | Human Disease [DOID:0110116] ( DOID:0110116 ) |