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

• OMIM:617237
• UMLS_CUI:C4310656

Ontology

Human Disease   ( DOID:0111979 )