Metadata | |
---|---|
ID | DOID:0110116 |
Name | autoimmune lymphoproliferative syndrome type 2B |
Definition | An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. https://www.ncbi.nlm.nih.gov/pubmed/12353035 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
ALPS with recurrent viral infections [EXACT] ALPS2B [EXACT] autoimmune lymphoproliferative syndrome type IIB [EXACT] autoimmune lymphoproliferative syndrome with recurrent viral infections [EXACT] Caspase 8 deficiency [EXACT] Caspase 8 deficiency syndrome [EXACT] Caspase eight deficiency state [EXACT] CEDS [EXACT] |
Parent Relationships |