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ADA-associated SCID

Thursday 16 June 2011

ADA-associated SCID is a T-, B-, NK- SCID (MIM.102700) caused by mutation in the ADA (MIM.608958) gene on 20q13.11

See also

- severe combined immunodeficiency (SCID)

  • recessive SCID
    • JAK3-associated SCID
    • IL7R-associated SCID
    • ADA-associated SCID
    • T-, B-, NK+ SCID with sensitivity to ionizing radiation caused by mutation in the Artemis gene on 10p (DCLRE1C-associated SCID)
    • T-, B-, NK+ SCID caused by mutation in the RAG1 and RAG2 genes on 11p13 (RAGs-associated SCID)

Approximately 20 to 30% of all SCID patients are T-, B-, NK+, and approximately half of these patients have mutations in the RAG1 or RAG2 genes (RAGs-associated SCID)