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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

ICD10CM:D47.9

OMIM:607271

ORDO:275517

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

is_a autoimmune lymphoproliferative syndrome

is_a autosomal recessive disease

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