autoimmune lymphoproliferative syndrome type 2B

Term ID

DOID:0110116

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. https://www.ncbi.nlm.nih.gov/pubmed/12353035

References

• ICD10CM:D47.9
• MIM:607271
• ORDO:275517

Ontology

Human Disease   ( DOID:0110116 )