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Xu, C. JAK3-Deficient Severe Combined Immunodeficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4192 (accessed on 29 September 2026).
Xu C. JAK3-Deficient Severe Combined Immunodeficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4192. Accessed September 29, 2026.
Xu, Camila. "JAK3-Deficient Severe Combined Immunodeficiency" Encyclopedia, https://encyclopedia.pub/entry/4192 (accessed September 29, 2026).
Xu, C. (2020, December 23). JAK3-Deficient Severe Combined Immunodeficiency. In Encyclopedia. https://encyclopedia.pub/entry/4192
Xu, Camila. "JAK3-Deficient Severe Combined Immunodeficiency." Encyclopedia. Web. 23 December, 2020.
JAK3-Deficient Severe Combined Immunodeficiency
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JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people.

genetic conditions

References

  1. Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T,Vihinen M, Schumacher RF. Mutations in severe combined immune deficiency (SCID)due to JAK3 deficiency. Hum Mutat. 2001 Oct;18(4):255-63. Review.
  2. O'Shea JJ, Husa M, Li D, Hofmann SR, Watford W, Roberts JL, Buckley RH,Changelian P, Candotti F. Jak3 and the pathogenesis of severe combinedimmunodeficiency. Mol Immunol. 2004 Jul;41(6-7):727-37. Review.
  3. Pesu M, Candotti F, Husa M, Hofmann SR, Notarangelo LD, O'Shea JJ. Jak3,severe combined immunodeficiency, and a new class of immunosuppressive drugs.Immunol Rev. 2005 Feb;203:127-42. Review.
  4. Vihinen M, Villa A, Mella P, Schumacher RF, Savoldi G, O'Shea JJ, Candotti F, Notarangelo LD. Molecular modeling of the Jak3 kinase domains and structuralbasis for severe combined immunodeficiency. Clin Immunol. 2000 Aug;96(2):108-18.
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Update Date: 23 Dec 2020
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