OBO ID: DOID:0110116
Term Name: autoimmune lymphoproliferative syndrome type 2B Search Ontology:
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:
Ontology: Human Disease   (DOID:0110116)
OTHER autoimmune lymphoproliferative syndrome type 2B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CASP8 ?Caspase 8 lymphadenopathy syndrome 607271
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None