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X-linked severe combined immunodeficiency

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Description

X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children. Without treatment, males with X-linked SCID usually do not live beyond infancy.

Frequency

X-linked SCID is the most common form of severe combined immunodeficiency. Its exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 newborns.

Causes

Mutations in the IL2RG gene cause X-linked SCID. The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially harmful invaders, make antibodies, and help regulate the entire immune system. Mutations in the IL2RG gene prevent these cells from developing and functioning normally. Without functional lymphocytes, the body is unable to fight off infections.

Inheritance

This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Other Names for This Condition

  • IL2RG SCID, T- B+ NK-
  • SCIDX1
  • X-linked SCID
  • X-SCID
  • XSCID

Additional Information & Resources

Genetic and Rare Diseases Information Center

Research Studies from ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

  • Allenspach E, Rawlings DJ, Scharenberg AM. X-Linked Severe Combined Immunodeficiency. 2003 Aug 26 [updated 2016 Apr 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews┬« [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1410/ Citation on PubMed
  • Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625-55. Review. Citation on PubMed
  • Chinen J, Puck JM. Successes and risks of gene therapy in primary immunodeficiencies. J Allergy Clin Immunol. 2004 Apr;113(4):595-603; quiz 604. Review. Citation on PubMed
  • Church AC. X-linked severe combined immunodeficiency. Hosp Med. 2002 Nov;63(11):676-80. Review. Citation on PubMed
  • Gennery AR, Cant AJ. Diagnosis of severe combined immunodeficiency. J Clin Pathol. 2001 Mar;54(3):191-5. Review. Citation on PubMed or Free article on PubMed Central
  • Huang H, Manton KG. Newborn screening for severe combined immunodeficiency (SCID): a review. Front Biosci. 2005 May 1;10:1024-39. Review. Citation on PubMed
  • Puck JM, Malech HL. Gene therapy for immune disorders: good news tempered by bad news. J Allergy Clin Immunol. 2006 Apr;117(4):865-9. Review. Citation on PubMed
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