OBO ID: DOID:0111959
Term Name: immunodeficiency 15B Search Ontology:
Synonyms:
  • IMD15B
Definition: A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in IKBKB on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/24369075/
References:
Ontology: Human Disease   (DOID:0111959)
OTHER immunodeficiency 15B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IKBKB Immunodeficiency 15B 615592
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None