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IL17RC gene

interleukin 17 receptor C
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Normal Function

The IL17RC gene provides instructions for making a protein that is involved in immune system function, specifically in the body's defense against a fungus called Candida. When the immune system recognizes Candida, it generates cells called Th17 cells. These cells produce signaling molecules (cytokines) called the interleukin-17 (IL-17) family as part of an immune process called the IL-17 pathway. The IL-17 pathway creates inflammation, sending other cytokines and white blood cells that fight foreign invaders and promote tissue repair. In addition, the IL-17 pathway promotes the production of certain antimicrobial protein segments (peptides) that control growth of Candida on the surface of mucous membranes.

The protein produced from the IL17RC gene is present in many tissue types in the body, and is involved in cell signaling as part of the IL-17 pathway. Together with the protein produced from the IL17RA gene, it forms one of several receptors for IL-17 cytokines. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Certain IL-17 cytokines attach to receptors containing the IL17RC and IL17RA proteins, triggering signals that promote inflammation and the defense against Candida infection.

Health Conditions Related to Genetic Changes

Familial candidiasis

At least three mutations in the IL17RC gene have been identified in people with familial candidiasis, an inherited tendency to develop infections caused by the Candida fungus (commonly known as yeast infections). Most people with familial candidiasis have chronic yeast infections of the skin, nails, and mucous membranes (collectively called chronic mucocutaneous candidiasis) beginning in early childhood.

IL17RC gene mutations result in an absence of IL17RC receptor protein. Loss of this protein impairs binding of IL-17 cytokines and IL-17 signaling. This impaired signaling decreases production of the antimicrobial peptides and inflammatory molecules that are critical for defense against Candida, and results in the chronic infection that occurs in familial candidiasis.

More About This Health Condition

Other Names for This Gene

  • IL-17 receptor C
  • IL-17RL
  • IL17F receptor
  • interleukin-17 receptor homolog
  • interleukin-17 receptor-like protein

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Ho AW, Shen F, Conti HR, Patel N, Childs EE, Peterson AC, Hernández-Santos N, Kolls JK, Kane LP, Ouyang W, Gaffen SL. IL-17RC is required for immune signaling via an extended SEF/IL-17R signaling domain in the cytoplasmic tail. J Immunol. 2010 Jul 15;185(2):1063-70. doi: 10.4049/jimmunol.0903739. Epub 2010 Jun 16. Citation on PubMed or Free article on PubMed Central
  • Huppler AR, Bishu S, Gaffen SL. Mucocutaneous candidiasis: the IL-17 pathway and implications for targeted immunotherapy. Arthritis Res Ther. 2012 Jul 23;14(4):217. doi: 10.1186/ar3893. Review. Citation on PubMed or Free article on PubMed Central
  • Ling Y, Cypowyj S, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S, Ikinciogullari A, Dogu F, Belkadi A, Levy R, Migaud M, Boisson B, Bolze A, Itan Y, Goudin N, Cottineau J, Picard C, Abel L, Bustamante J, Casanova JL, Puel A. Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. J Exp Med. 2015 May 4;212(5):619-31. doi: 10.1084/jem.20141065. Epub 2015 Apr 27. Citation on PubMed or Free article on PubMed Central
  • Plantinga TS, Johnson MD, Scott WK, Joosten LA, van der Meer JW, Perfect JR, Kullberg BJ, Netea MG. Human genetic susceptibility to Candida infections. Med Mycol. 2012 Nov;50(8):785-94. doi: 10.3109/13693786.2012.690902. Epub 2012 Jun 4. Review. Citation on PubMed
  • Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova JL. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol. 2012 Dec;12(6):616-22. doi: 10.1097/ACI.0b013e328358cc0b. Review. Citation on PubMed or Free article on PubMed Central
  • Smeekens SP, van de Veerdonk FL, Kullberg BJ, Netea MG. Genetic susceptibility to Candida infections. EMBO Mol Med. 2013 Jun;5(6):805-13. doi: 10.1002/emmm.201201678. Epub 2013 Apr 30. Review. Citation on PubMed or Free article on PubMed Central
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