Immunodeficiency 49

MONDO:0014981

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.

Also known as: BCL11B primary immunodeficiency disease, IMD49, immunodeficiency 49; IMD49, immunodeficiency type 49, primary immunodeficiency disease caused by mutation in BCL11B, 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

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