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, severe combined 617237
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None