OBO ID: DOID:0112015
Term Name: immunodeficiency 72 Search Ontology:
Synonyms:
  • immunodeficiency 72 with autoinflammation
Definition: A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in NCKAP1L on chromosome 12q13.1-q13.2. https://pubmed.ncbi.nlm.nih.gov/32647003/
References:
Ontology: Human Disease   (DOID:0112015)
OTHER immunodeficiency 72 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NCKAP1L Immunodeficiency 72 with autoinflammation 618982
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None