OBO ID: DOID:0111979
Term Name: immunodeficiency 49 Search Ontology:
Synonyms:
  • IMD49
  • SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
  • severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
Definition: A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in BCL11B on chromosome 14q32.2. (2)
References:
Ontology: Human Disease   (DOID:0111979)
OTHER immunodeficiency 49 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BCL11B Immunodeficiency 49 617237
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None