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Metadata
ID DOID:0111979
Name immunodeficiency 49
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.
https://pubmed.ncbi.nlm.nih.gov/27959755/, https://pubmed.ncbi.nlm.nih.gov/29985992/
Xrefs

OMIM:617237

UMLS_CUI:C4310656

Synonyms

IMD49 [EXACT]

SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities [EXACT]

severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities [EXACT]

Parent Relationships

is_a T cell deficiency

is_a autosomal dominant disease

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