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immunodeficiency 49

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The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Disease Overview

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

Synonyms

  • BCL11B primary immunodeficiency disease
  • IMD49
  • SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities
  • immunodeficiency 49
  • immunodeficiency 49; IMD49
  • immunodeficiency type 49
  • primary immunodeficiency disease caused by mutation in BCL11B
  • severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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