Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

Yun Ling, Sophie Cypowyj, Caner Aytekin, Miguel Galicchio, Yildiz Camcioglu, Serdar Nepesov, Aydan Ikinciogullari, Figen Dogu, Abdelaziz Belkadi, Romain Levy, M�lanie Migaud, Bertrand Boisson, Alexandre Bolze, Yuval Itan, Nicolas Goudin, Julien Cottineau, Capucine Picard, Laurent Abel Bustamante, Jean Laurent Casanova, Anne Puel

Research output: Contribution to journalArticle

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Abstract

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C. albicans. Autosomal-recessive (AR) IL-17RA and ACT1 deficiencies and autosomal-dominant IL-17F deficiency, each reported in a single kindred, underlie CMC in otherwise healthy patients. We report three patients from unrelated kindreds, aged 8, 12, and 37yr with isolated CMC, who display AR IL-17RC deficiency. The patients are homozygous for different nonsense alleles that prevent the expression of IL-17RC on the cell surface. The defect is complete, abolishing cellular responses to IL-17A and IL-17F homo- and heterodimers. However, in contrast to what is observed for the IL-17RA- and ACT1-deficient patients tested, the response to IL-17E (IL-25) is maintained in these IL-17RC-deficient patients. These experiments of nature indicate that human IL-17RC is essential for mucocutaneous immunity to C. albicans but is otherwise largely redundant.

Original languageEnglish
Pages (from-to)619-631
Number of pages13
JournalJournal of Experimental Medicine
Volume212
Issue number5
DOIs
Publication statusPublished - 1 Jan 2015
Externally publishedYes

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Chronic Mucocutaneous Candidiasis
Interleukin-17
Mouth Mucosa
Nails
Candida
Immunity
Alleles
Skin
Infection

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Ling, Y., Cypowyj, S., Aytekin, C., Galicchio, M., Camcioglu, Y., Nepesov, S., ... Puel, A. (2015). Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. Journal of Experimental Medicine, 212(5), 619-631. https://doi.org/10.1084/jem.20141065

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. / Ling, Yun; Cypowyj, Sophie; Aytekin, Caner; Galicchio, Miguel; Camcioglu, Yildiz; Nepesov, Serdar; Ikinciogullari, Aydan; Dogu, Figen; Belkadi, Abdelaziz; Levy, Romain; Migaud, M�lanie; Boisson, Bertrand; Bolze, Alexandre; Itan, Yuval; Goudin, Nicolas; Cottineau, Julien; Picard, Capucine; Bustamante, Laurent Abel; Casanova, Jean Laurent; Puel, Anne.

In: Journal of Experimental Medicine, Vol. 212, No. 5, 01.01.2015, p. 619-631.

Research output: Contribution to journalArticle

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, Bustamante, LA, Casanova, JL & Puel, A 2015, 'Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis', Journal of Experimental Medicine, vol. 212, no. 5, pp. 619-631. https://doi.org/10.1084/jem.20141065
Ling Y, Cypowyj S, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S et al. Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. Journal of Experimental Medicine. 2015 Jan 1;212(5):619-631. https://doi.org/10.1084/jem.20141065
Ling, Yun ; Cypowyj, Sophie ; Aytekin, Caner ; Galicchio, Miguel ; Camcioglu, Yildiz ; Nepesov, Serdar ; Ikinciogullari, Aydan ; Dogu, Figen ; Belkadi, Abdelaziz ; Levy, Romain ; Migaud, M�lanie ; Boisson, Bertrand ; Bolze, Alexandre ; Itan, Yuval ; Goudin, Nicolas ; Cottineau, Julien ; Picard, Capucine ; Bustamante, Laurent Abel ; Casanova, Jean Laurent ; Puel, Anne. / Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. In: Journal of Experimental Medicine. 2015 ; Vol. 212, No. 5. pp. 619-631.
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