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Definition

A form of severe combined immunodeficiency characterized by severe T-cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities.

Acronym

IMD49

Synonyms

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

Keywords

SCID
Mental retardation

 
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