DISEASES

Disease-gene associations mined from literature

Human genes for immunodeficiency 49

Immunodeficiency 49 [DOID:0111979]

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.

Synonyms:  immunodeficiency 49,  DOID:0111979,  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 ...