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Human Disease

immunodeficiency 49

Term ID
DOID:0111979
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 the BCL11B gene on chromosome 14q32.2. (2)
References
Ontology
Human Disease   ( DOID:0111979 )
Relationships
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Genes Involved
Zebrafish Models