X-linked severe combined immunodeficiency

X-linked severe combined immunodeficiency
Other namesX-SCID
X-linked recessive is the inheritance pattern of this disorder
SpecialtyHematology Edit this on Wikidata

X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells.

In the absence of T cell help, B cells become defective.[1] It is an X-linked recessive inheritance trait, stemming from a mutated (abnormal) version of the IL2RG gene located on the X-chromosome. This gene encodes the interleukin receptor common gamma chain protein, which is a cytokine receptor sub-unit that is part of the receptors for IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21.[2][3]

  1. ^ Fisher, A.; Hacein-Bey, S.; Cavazzana-Calvo, M. (August 2002). "Gene therapy of severe combined immunodeficiencies". Nature Reviews Immunology. 2 (8): 615–621. doi:10.1038/nri859. PMID 12154380. S2CID 39791932.
  2. ^ Buckley, R.H. (2000). "Advances in the Understanding and Treatment of Human Severe Combined Immunodeficiency". Immunologic Research. 22 (2–3): 237–251. doi:10.1385/ir:22:2-3:237. PMID 11339359. S2CID 36855063.
  3. ^ Puck, J.M.; de Saint Basil, G.; Schwarz, K.; Fugmann, S.; Fischer, R.E. (November 1996). "IL2RGbase: a database of γc-chain defects causing human X-SCID". Immunology Today. 17 (11): 507–511. doi:10.1016/0167-5699(96)30062-5. PMID 8961626.