FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 49 ID (Ontology) DOID:0111979 (Human Disease)
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.
Also Known As "IMD49" ; "SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities" ; "severe combined immunodeficiency 49" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 49       1
 for disease ribbon | immunodeficiency 49       1
 model of | immunodeficiency 49       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease____
primary immunodeficiency disease  |
 |__T cell deficiency_____________|
                                  immunodeficiency 49  1 rec.
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Is a autosomal dominant disease
T cell deficiency
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Synonyms
  • "IMD49" EXACT OMO:0003012
    "SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities" EXACT
    "severe combined immunodeficiency 49" EXACT
    "severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities" EXACT
Secondary IDs
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MIM:617237
UMLS_CUI:C4310656