autoimmune lymphoproliferative syndrome type 2B (DOID:0110116)
Alliance: disease page
Synonyms: ALPS2B; ALPS with recurrent viral infections; autoimmune lymphoproliferative syndrome type IIB; autoimmune lymphoproliferative syndrome with recurrent viral infections; Caspase 8 deficiency; Caspase 8 deficiency syndrome; Caspase eight deficiency state; CEDS
Alt IDs: OMIM:607271, ICD10CM:D47.9, ORDO:275517
Definition: An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33.