Publikationsdatum:
2011-02-26
Beschreibung:
Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae caused by Candida albicans and, to a lesser extent, Staphylococcus aureus, in patients with no other infectious or autoimmune manifestations. We report two genetic etiologies of CMCD: autosomal recessive deficiency in the cytokine receptor, interleukin-17 receptor A (IL-17RA), and autosomal dominant deficiency of the cytokine interleukin-17F (IL-17F). IL-17RA deficiency is complete, abolishing cellular responses to IL-17A and IL-17F homo- and heterodimers. By contrast, IL-17F deficiency is partial, with mutant IL-17F-containing homo- and heterodimers displaying impaired, but not abolished, activity. These experiments of nature indicate that human IL-17A and IL-17F are essential for mucocutaneous immunity against C. albicans, but otherwise largely redundant.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070042/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070042/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Puel, Anne -- Cypowyj, Sophie -- Bustamante, Jacinta -- Wright, Jill F -- Liu, Luyan -- Lim, Hye Kyung -- Migaud, Melanie -- Israel, Laura -- Chrabieh, Maya -- Audry, Magali -- Gumbleton, Matthew -- Toulon, Antoine -- Bodemer, Christine -- El-Baghdadi, Jamila -- Whitters, Matthew -- Paradis, Theresa -- Brooks, Jonathan -- Collins, Mary -- Wolfman, Neil M -- Al-Muhsen, Saleh -- Galicchio, Miguel -- Abel, Laurent -- Picard, Capucine -- Casanova, Jean-Laurent -- 5UL1RR024143-04/RR/NCRR NIH HHS/ -- UL1 RR024143/RR/NCRR NIH HHS/ -- UL1 RR024143-04/RR/NCRR NIH HHS/ -- New York, N.Y. -- Science. 2011 Apr 1;332(6025):65-8. doi: 10.1126/science.1200439. Epub 2011 Feb 24.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, U980, and University Paris Descartes, Necker Medical School, 75015 Paris, France. anne.puel@inserm.fr〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21350122" target="_blank"〉PubMed〈/a〉
Schlagwort(e):
Candida albicans
;
Candidiasis, Chronic Mucocutaneous/*genetics/*immunology
;
Child
;
Child, Preschool
;
Female
;
Genes, Dominant
;
Genes, Recessive
;
Humans
;
Interleukin-17/*immunology
;
Male
;
Molecular Sequence Data
;
Mutation
;
Pedigree
;
Receptors, Interleukin-17/genetics
;
Signal Transduction/genetics
;
Th17 Cells/immunology
Print ISSN:
0036-8075
Digitale ISSN:
1095-9203
Thema:
Biologie
,
Chemie und Pharmazie
,
Informatik
,
Medizin
,
Allgemeine Naturwissenschaft
,
Physik
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