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GTR Home > Conditions/Phenotypes > Immunodeficiency 49

Immunodeficiency 49

Synonyms
IMMUNODEFICIENCY 49, SEVERE COMBINED; 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

Summary

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene. [from MONDO]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATL1, ATL1-alpha, ATL1-beta, ATL1-delta, ATL1-gamma, CTIP-2, CTIP2, IDDFSTA, IMD49, RIT1, SMARCM2, ZNF856B, hRIT1-alpha, BCL11B
    Summary: BCL11 transcription factor B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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