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autosomal recessive SCID

Thursday 16 June 2011

Types

- T-, B+, NK- SCID (600802) caused by mutation in the JAK3 gene (MIM.600173) on 19p13.1 (JAK3-associated SCID) (MIM.600802)
- T-, B+, NK+ SCID (608971) caused by mutation in the IL7R gene (146661) on 5p13, the CD45 gene (151460) on 1q31-q32, or the CD3D gene (186790) on 11q23 (IL7R-associated SCID)
- T-, B-, NK- SCID (102700) caused by mutation in the ADA (608958) gene on 20q13.11 (ADA-associated SCID)
- T-, B-, NK+ SCID with sensitivity to ionizing radiation caused by mutation in the Artemis gene on 10p;
- 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)

See also

- severe combined immunodeficiency (SCID)