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

Journal of Experimental Medicine

Volumn 212, Issue 5, 2015, Pages 619-631

  Ling, Yun ^a   Cypowyj, Sophie ^b   Aytekin, Caner ^c   Galicchio, Miguel ^d   Camcioglu, Yildiz ^e   Nepesov, Serdar ^e   Ikinciogullari, Aydan ^f   Dogu, Figen ^f   Belkadi, Aziz ^a   Levy, Romain ^a   Migaud, Mélanie ^a   Boisson, Bertrand ^b   Bolze, Alexandre ^b   Itan, Yuval ^b   Goudin, Nicolas ^a,g   Cottineau, Julien ^a   Picard, Capucine ^a,b,h   Bustamante, Laurent Abel ^a,b,h   Casanova, Jean Laurent ^a,b,h,i   Puel, Anne ^a,b  

^a IMAGINE INSTITUTE   (France)

^b ROCKEFELLER UNIVERSITY   (United States)

^c Ankara Diskapi Yildirim Beyazit Training   (Turkey)

^d Research Hospital ^*  (Argentina)

^e ISTANBUL UNIVERSITY   (Turkey)

^f ANKARA UNIVERSITY   (Turkey)

^g Federative Structure of Research (SFR)   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FLUCONAZOLE; GAMMA INTERFERON; HETERODIMER; HOMODIMER; INTERLEUKIN 17; INTERLEUKIN 17 RECEPTOR; INTERLEUKIN 17 RECEPTOR C; INTERLEUKIN 17F; INTERLEUKIN 1BETA; INTERLEUKIN 22; INTERLEUKIN 25; INTERLEUKIN 6; MESSENGER RNA; THYROTROPIN; UNCLASSIFIED DRUG; IL17A PROTEIN, HUMAN; IL17F PROTEIN, HUMAN; IL17RC PROTEIN, HUMAN; IL25 PROTEIN, HUMAN; INTERLEUKIN RECEPTOR; TRAF3IP2 PROTEIN, HUMAN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR;

ADULT; APHTHOUS STOMATITIS; ARTICLE; CASE REPORT; CELL SURFACE; CHILD; CONSANGUINITY; CYTOKINE PRODUCTION; FEMALE; GENETIC ASSOCIATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; INTERLEUKIN 17 RECEPTOR C DEFICIENCY; INTERTRIGO; LYMPHOCYTE COUNT; MALE; MOLECULAR WEIGHT; MUCOCUTANEOUS CANDIDIASIS; NONSENSE MUTATION; ONYCHOMYCOSIS; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; PUSTULE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; STOP CODON; THRUSH; THYROID FUNCTION; TREATMENT RESPONSE; CANDIDA ALBICANS; DEFICIENCY; GENETICS; HOMOZYGOTE; IMMUNOLOGY; PATHOLOGY; SKIN DISEASE;

ADULT; CANDIDA ALBICANS; CANDIDIASIS, CHRONIC MUCOCUTANEOUS; CHILD; FEMALE; HOMOZYGOTE; HUMANS; INTERLEUKIN-17; MALE; RECEPTORS, INTERLEUKIN; SKIN DISEASES, GENETIC; TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PEPTIDES AND PROTEINS;

EID: 84937713659     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20141065     Document Type: Article

References (70)

1. Al Rushood, M., C. McCusker, B. Mazer, R. Alizadehfar, B. Grimbacher, M. Depner, and M. Ben-Shoshan. 2013. Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3. J. Pediatr. 163:277-279. http://dx.doi.org/10.1016/j.jpeds.2013.02.040.
2. Aldave, J.C., E. Cachay, L. Núñez, A. Chunga, S. Murillo, S. Cypowyj, J. Bustamante, A. Puel, J.L. Casanova, and A. Koo. 2013. A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation. J. Clin. Immunol. 33:1273-1275. http://dx.doi.org/10.1007/s10875-013-9947-5.
3. Aujla, S.J., P.J. Dubin, and J.K. Kolls. 2007. Th17 cells and mucosal host defense. Semin. Immunol. 19:377-382. http://dx.doi.org/10.1016/j.smim.2007.10.009.
4. Boisson, B., C. Wang, V. Pedergnana, L. Wu, S. Cypowyj, M. Rybojad, A. Belkadi, C. Picard, L. Abel, C. Fieschi, et al. 2013. An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity. 39:676-686. http://dx.doi.org/10.1016/j.immuni.2013.09.002.
5. Boisson-Dupuis, S., X.F. Kong, S. Okada, S. Cypowyj, A. Puel, L. Abel, and J.L. Casanova. 2012. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr. Opin. Immunol. 24:364-378. http://dx.doi.org/10.1016/j.coi.2012.04.011.
6. Browne, S.K., and S.M. Holland. 2010. Immunodeficiency secondary to anticytokine autoantibodies. Curr. Opin. Allergy Clin. Immunol. 10:534-541. http://dx.doi.org/10.1097/ACI.0b013e3283402b41.
7. Casanova, J.L., and L. Abel. 2013. The genetic theory of infectious diseases: a brief history and selected illustrations. Annu. Rev. Genomics Hum. Genet. 14:215-243. http://dx.doi.org/10.1146/annurev-genom-091212-153448.
8. Casanova, J.L., L. Abel, and L. Quintana-Murci. 2013. Immunology taught by human genetics. Cold Spring Harb. Symp. Quant. Biol. 78:157-172. http://dx.doi.org/10.1101/sqb.2013.78.019968.
9. Casanova, J.L., M.E. Conley, S.J. Seligman, L. Abel, and L.D. Notarangelo. 2014. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J. Exp. Med. 211:2137-2149. http://dx.doi.org/10.1084/jem.20140520.
10. Chandesris, M.O., I. Melki, A. Natividad, A. Puel, C. Fieschi, L. Yun, C. Thumerelle, E. Oksenhendler, D. Boutboul, C. Thomas, et al. 2012. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore). 91:e1- e19. http://dx.doi.org/10.1097/MD.0b013e31825f95b9.
11. Curtis, M.M., and S.S. Way. 2009. Interleukin-17 in host defence against bacterial, mycobacterial and fungal pathogens. Immunology. 126:177-185. http://dx.doi.org/10.1111/j.1365-2567.2008.03017.x.
12. Cypowyj, S., C. Picard, L. Maródi, J.L. Casanova, and A. Puel. 2012. Immunity to infection in IL-17-deficient mice and humans. Eur. J. Immunol. 42:2246-2254. http://dx.doi.org/10.1002/eji.201242605.
13. de Beaucoudrey, L., A. Puel, O. Filipe-Santos, A. Cobat, P. Ghandil, M. Chrabieh, J. Feinberg, H. von Bernuth, A. Samarina, L. Jannière, et al. 2008. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J. Exp. Med. 205:1543-1550. http://dx.doi.org/10.1084/jem.20080321.
14. de Beaucoudrey, L., A. Samarina, J. Bustamante, A. Cobat, S. Boisson-Dupuis, J. Feinberg, S. Al-Muhsen, L. Jannière, Y. Rose, M. de Suremain, et al. 2010. Revisiting human IL-12R?1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 89:381-402. http://dx.doi.org/10.1097/MD.0b013e3181fdd832.
15. Ely, L.K., S. Fischer, and K.C. Garcia. 2009. Structural basis of receptor sharing by interleukin 17 cytokines. Nat. Immunol. 10:1245-1251. http://dx.doi.org/10.1038/ni.1813.
16. Engelhardt, K.R., and B. Grimbacher. 2012. Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects. J. Allergy Clin. Immunol. 129:294-305. http://dx.doi.org/10.1016/j.jaci.2011.12.966.
17. Frans, G., L. Moens, H. Schaballie, L. Van Eyck, H. Borgers, M. Wuyts, D. Dillaerts, E. Vermeulen, J. Dooley, B. Grimbacher, et al. 2014. Gainof-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding. J. Allergy Clin. Immunol. 134:1209-1213. http://dx.doi.org/10.1016/j.jaci.2014.05.044.
18. Gaffen, S.L. 2009. Structure and signalling in the IL-17 receptor family. Nat. Rev. Immunol. 9:556-567. http://dx.doi.org/10.1038/nri2586.
19. Glocker, E.O., A. Hennigs, M. Nabavi, A.A. Schäffer, C. Woellner, U. Salzer, D. Pfeifer, H. Veelken, K. Warnatz, F. Tahami, et al. 2009. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N. Engl. J. Med. 361:1727-1735. http://dx.doi.org/10.1056/NEJMoa0810719.
20. Ho, A.W., and S.L. Gaffen. 2010. IL-17RC: a partner in IL-17 signaling and beyond. Semin. Immunopathol. 32:33-42. http://dx.doi.org/10.1007/s00281-009-0185-0.
21. Ho, A.W., F. Shen, H.R. Conti, N. Patel, E.E. Childs, A.C. Peterson, N. Hernández-Santos, J.K. Kolls, L.P. Kane, W. Ouyang, and S.L. Gaffen. 2010. IL-17RC is required for immune signaling via an extended SEF/IL-17R signaling domain in the cytoplasmic tail. J. Immunol. 185:1063-1070. http://dx.doi.org/10.4049/jimmunol.0903739.
22. Hori, T., H. Ohnishi, T. Teramoto, K. Tsubouchi, T. Naiki, Y. Hirose, O. Ohara, M. Seishima, H. Kaneko, T. Fukao, and N. Kondo. 2012. Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. J. Clin. Immunol. 32:1213-1220. http://dx.doi.org/10.1007/s10875-012-9744-6.
23. Hu, Y., N. Ota, I. Peng, C.J. Refino, D.M. Danilenko, P. Caplazi, and W. Ouyang. 2010. IL-17RC is required for IL-17A- and IL-17F-dependent signaling and the pathogenesis of experimental autoimmune encephalomyelitis. J. Immunol. 184:4307-4316. http://dx.doi.org/10.4049/jimmunol.0903614.
24. Hu, Y., F. Shen, N.K. Crellin, and W. Ouyang. 2011. The IL-17 pathway as a major therapeutic target in autoimmune diseases. Ann. N. Y. Acad. Sci. 1217:60-76. http://dx.doi.org/10.1111/j.1749-6632.2010.05825.x.
25. Huppler, A.R., S. Bishu, and S.L. Gaffen. 2012. Mucocutaneous candidiasis: the IL-17 pathway and implications for targeted immunotherapy. Arthritis Res. Ther. 14:217. http://dx.doi.org/10.1186/ar3893.
26. Husebye, E.S., and M.S. Anderson. 2010. Autoimmune polyendocrine syndromes: clues to type 1 diabetes pathogenesis. Immunity. 32:479-487. http://dx.doi.org/10.1016/j.immuni.2010.03.016.
27. Ishigame, H., S. Kakuta, T. Nagai, M. Kadoki, A. Nambu, Y. Komiyama, N. Fujikado, Y. Tanahashi, A. Akitsu, H. Kotaki, et al. 2009. Differential roles of interleukin-17A and -17F in host defense against mucoepithelial bacterial infection and allergic responses. Immunity. 30:108-119. http://dx.doi.org/10.1016/j.immuni.2008.11.009.
28. Itan, Y., S.Y. Zhang, G. Vogt, A. Abhyankar, M. Herman, P. Nitschke, D. Fried, L. Quintana-Murci, L. Abel, and J.L. Casanova. 2013. The human gene connectome as a map of short cuts for morbid allele discovery. Proc. Natl. Acad. Sci. USA. 110:5558-5563. http://dx.doi.org/10.1073/pnas.1218167110.
29. Itan, Y., M. Mazel, B. Mazel, A. Abhyankar, P. Nitschke, L. Quintana-Murci, S. Boisson-Dupuis, B. Boisson, L. Abel, and J.L. Casanova. 2014. HGCS: an online tool for prioritizing disease-causing gene variants by biological distance. BMC Genomics. 15:256. http://dx.doi.org/10.1186/1471-2164-15-256.
30. Kilic, S.S., A. Puel, and J.L. Casanova. 2014. Orf infection in a patient with Stat1 gain-of-function. J. Clin. Immunol. In press.
31. Kisand, K., A.S. Bøe Wolff, K.T. Podkrajsek, L. Tserel, M. Link, K.V. Kisand, E. Ersvaer, J. Perheentupa, M.M. Erichsen, N. Bratanic, et al. 2010. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J. Exp. Med. 207:299-308. http://dx.doi.org/10.1084/jem.20091669.
32. Kisand, K., D. Lilic, J.L. Casanova, P. Peterson, A. Meager, and N. Willcox. 2011. Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications. Eur. J. Immunol. 41:1517-1527. http://dx.doi.org/10.1002/eji.201041253.
33. Kuestner, R.E., D.W. Taft, A. Haran, C.S. Brandt, T. Brender, K. Lum, B. Harder, S. Okada, C.D. Ostrander, J.L. Kreindler, et al. 2007. Identification of the IL-17 receptor related molecule IL-17RC as the receptor for IL-17F. J. Immunol. 179:5462-5473. http://dx.doi.org/10.4049/jimmunol.179.8.5462.
34. Lanternier, F., S. Pathan, Q.B. Vincent, L. Liu, S. Cypowyj, C. Prando, M. Migaud, L. Taibi, A. Ammar-Khodja, O. Boudghene Stambouli, et al. 2013. Deep dermatophytosis and inherited CARD9 deficiency. N. Engl. J. Med. 369:1704-1714. http://dx.doi.org/10.1056/NEJMoa1208487.
35. Lee, P.P., H. Mao, W. Yang, K.W. Chan, M.H. Ho, T.L. Lee, J.F. Chan, P.C. Woo, W. Tu, and Y.L. Lau. 2014. Penicillium marneffei infection and impaired IFN-? immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations. J. Allergy Clin. Immunol. 133:894-896. http://dx.doi.org/10.1016/j.jaci.2013.08.051.
36. Ling, Y., and A. Puel. 2014. IL-17 and infections. Actas Dermosifiliogr. 105:34-40. http://dx.doi.org/10.1016/S0001-7310(14)70016-X.
37. Lionakis, M.S. 2012. Genetic susceptibility to fungal infections in humans. Curr. Fungal Infect. Rep. 6:11-22. http://dx.doi.org/10.1007/s12281-011-0076-4.
38. Liu, L., S. Okada, X.F. Kong, A.Y. Kreins, S. Cypowyj, A. Abhyankar, J. Toubiana, Y. Itan, M. Audry, P. Nitschke, et al. 2011. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J. Exp. Med. 208:1635-1648. http://dx.doi.org/10.1084/jem.20110958.
39. Ma, C.S., G.Y. Chew, N. Simpson, A. Priyadarshi, M. Wong, B. Grimbacher, D.A. Fulcher, S.G. Tangye, and M.C. Cook. 2008. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J. Exp. Med. 205:1551-1557. http://dx.doi.org/10.1084/jem.20080218.
40. McAllister, F., A. Henry, J.L. Kreindler, P.J. Dubin, L. Ulrich, C. Steele, J.D. Finder, J.M. Pilewski, B.M. Carreno, S.J. Goldman, et al. 2005. Role of IL-17A, IL-17F, and the IL-17 receptor in regulating growth-related oncogene-? and granulocyte colony-stimulating factor in bronchial epithelium: implications for airway inflammation in cystic fibrosis. J. Immunol. 175:404-412. http://dx.doi.org/10.4049/jimmunol.175.1.404.
41. Mekki, N., I. Ben-Mustapha, L. Liu, L. Boussofara, S. Okada, S. Cypowyj, N. Ghariani, W. Saidi, M. Denguezli, J.L. Casanova, et al. 2014. IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation. J. Invest. Dermatol. 134:1155-1157. http://dx.doi.org/10.1038/jid.2013.480.
42. Milner, J.D., J.M. Brenchley, A. Laurence, A.F. Freeman, B.J. Hill, K.M. Elias, Y. Kanno, C. Spalding, H.Z. Elloumi, M.L. Paulson, et al. 2008. Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature. 452:773-776. http://dx.doi.org/10.1038/nature06764.
43. Mizoguchi, Y., M. Tsumura, S. Okada, O. Hirata, S. Minegishi, K. Imai, N. Hyakuna, H. Muramatsu, S. Kojima, Y. Ozaki, et al. 2014. Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. J. Leukoc. Biol. 95:667-676. http://dx.doi.org/10.1189/jlb.0513250.
44. Moseley, T.A., D.R. Haudenschild, L. Rose, and A.H. Reddi. 2003. Interleukin-17 family and IL-17 receptors. Cytokine Growth Factor Rev. 14:155-174. http://dx.doi.org/10.1016/S1359-6101(03)00002-9.
45. Ouederni, M., O. Sanal, A. Ikinciogullari, I. Tezcan, F. Dogu, I. Sologuren, S. Pedraza-Sánchez, M. Keser, G. Tanir, C. Nieuwhof, et al. 2014. Clinical features of candidiasis in patients with inherited interleukin 12 receptor ?1 deficiency. Clin. Infect. Dis. 58:204-213. http://dx.doi.org/10.1093/cid/cit722.
46. Prando, C., A. Samarina, J. Bustamante, S. Boisson-Dupuis, A. Cobat, C. Picard, Z. AlSum, S. Al-Jumaah, S. Al-Hajjar, H. Frayha, et al. 2013. Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds. Medicine (Baltimore). 92:109-122. (published erratum appears in Medicine (Baltimore). 2013. 92:190) http://dx.doi.org/10.1097/MD.0b013e31828a01f9.
47. Puel, A., R. Döffinger, A. Natividad, M. Chrabieh, G. Barcenas-Morales, C. Picard, A. Cobat, M. Ouachée-Chardin, A. Toulon, J. Bustamante, et al. 2010a. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J. Exp. Med. 207:291-297. http://dx.doi.org/10.1084/jem.20091983.
48. Puel, A., C. Picard, S. Cypowyj, D. Lilic, L. Abel, and J.L. Casanova. 2010b. Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines? Curr. Opin. Immunol. 22:467-474. http://dx.doi.org/10.1016/j.coi.2010.06.009.
49. Puel, A., S. Cypowyj, J. Bustamante, J.F. Wright, L. Liu, H.K. Lim, M. Migaud, L. Israel, M. Chrabieh, M. Audry, et al. 2011. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 332:65-68. http://dx.doi.org/10.1126/science.1200439.
50. Puel, A., S. Cypowyj, L. Maródi, L. Abel, C. Picard, and J.L. Casanova. 2012. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr. Opin. Allergy Clin. Immunol. 12:616-622. http://dx.doi.org/10.1097/ACI.0b013e328358cc0b.
51. Purcell, S., B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, D. Bender, J. Maller, P. Sklar, P.I. de Bakker, M.J. Daly, and P.C. Sham. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81:559-575. http://dx.doi.org/10.1086/519795.
52. Renner, E.D., S. Rylaarsdam, S. Anover-Sombke, A.L. Rack, J. Reichenbach, J.C. Carey, Q. Zhu, A.F. Jansson, J. Barboza, L.F. Schimke, et al. 2008. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J. Allergy Clin. Immunol. 122:181-187. http://dx.doi.org/10.1016/j.jaci.2008.04.037.
53. Rickel, E.A., L.A. Siegel, B.R. Yoon, J.B. Rottman, D.G. Kugler, D.A. Swart, P.M. Anders, J.E. Tocker, M.R. Comeau, and A.L. Budelsky. 2008. Identification of functional roles for both IL-17RB and IL-17RA in mediating IL-25-induced activities. J. Immunol. 181:4299-4310. http://dx.doi.org/10.4049/jimmunol.181.6.4299.
54. Romberg, N., H. Morbach, M.G. Lawrence, S. Kim, I. Kang, S.M. Holland, J.D. Milner, and E. Meffre. 2013. Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. J. Allergy Clin. Immunol. 131:1691-1693. http://dx.doi.org/10.1016/j.jaci.2013.01.004.
55. Sampaio, E.P., A.P. Hsu, J. Pechacek, H.I. Bax, D.L. Dias, M.L. Paulson, P. Chandrasekaran, L.B. Rosen, D.S. Carvalho, L. Ding, et al. 2013. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J. Allergy Clin. Immunol. 131:1624-1634. http://dx.doi.org/10.1016/j.jaci.2013.01.052.
56. Sharfe, N., A. Nahum, A. Newell, H. Dadi, B. Ngan, S.L. Pereira, J.A. Herbrick, and C.M. Roifman. 2014. Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. J. Allergy Clin. Immunol. 133:807-817. http://dx.doi.org/10.1016/j.jaci.2013.09.032.
57. Smeekens, S.P., T.S. Plantinga, F.L. van de Veerdonk, B. Heinhuis, A. Hoischen, L.A. Joosten, P.D. Arkwright, A. Gennery, B.J. Kullberg, J.A. Veltman, et al. 2011. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS ONE. 6:e29248. http://dx.doi.org/10.1371/journal.pone.0029248.
58. Soltész, B., B. Tóth, N. Shabashova, A. Bondarenko, S. Okada, S. Cypowyj, A. Abhyankar, G. Csorba, S. Taskó, A.K. Sarkadi, et al. 2013. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J. Med. Genet. 50:567-578. http://dx.doi.org/10.1136/jmedgenet-2013-101570.
59. Takezaki, S., M. Yamada, M. Kato, M.J. Park, K. Maruyama, Y. Yamazaki, N. Chida, O. Ohara, I. Kobayashi, and T. Ariga. 2012. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J. Immunol. 189:1521-1526. http://dx.doi.org/10.4049/jimmunol.1200926.
60. Tóth, B., L. Méhes, S. Taskó, Z. Szalai, Z. Tulassay, S. Cypowyj, J.L. Casanova, A. Puel, and L. Maródi. 2012. Herpes in STAT1 gain-offunction mutation [corrected]. Lancet. 379:2500. http://dx.doi.org/10.1016/S0140-6736(12)60365-1.
61. Toy, D., D. Kugler, M. Wolfson, T. Vanden Bos, J. Gurgel, J. Derry, J. Tocker, and J. Peschon. 2006. Cutting edge: interleukin 17 signals through a heteromeric receptor complex. J. Immunol. 177:36-39. http://dx.doi.org/10.4049/jimmunol.177.1.36.
62. Trautwein-Weidner, K., A. Gladiator, S. Nur, P. Diethelm, and S. LeibundGut-Landmann. 2015. IL-17-mediated antifungal defense in the oral mucosa is independent of neutrophils. Mucosal Immunol. 8:221-231. http://dx.doi.org/10.1038/mi.2014.57.
63. Uzel, G., E.P. Sampaio, M.G. Lawrence, A.P. Hsu, M. Hackett, M.J. Dorsey, R.J. Noel, J.W. Verbsky, A.F. Freeman, E. Janssen, et al. 2013. Dominant gainof-function STAT1 mutations in FOXP3 wild-type immune dysregulationpolyendocrinopathy-enteropathy-X-linked-like syndrome. J. Allergy Clin. Immunol. 131:1611-1623. http://dx.doi.org/10.1016/j.jaci.2012.11.054.
64. van de Veerdonk, F.L., T.S. Plantinga, A. Hoischen, S.P. Smeekens, L.A. Joosten, C. Gilissen, P. Arts, D.C. Rosentul, A.J. Carmichael, C.A. Smits-van der Graaf, et al. 2011. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N. Engl. J. Med. 365:54-61. http://dx.doi.org/10.1056/NEJMoa1100102.
65. Vidlak, D., and T. Kielian. 2012. Differential effects of interleukin-17 receptor signaling on innate and adaptive immunity during central nervous system bacterial infection. J. Neuroinflammation. 9:128. http://dx.doi.org/10.1186/1742-2094-9-128.
66. Vinh, D.C. 2011. Insights into human antifungal immunity from primary immunodeficiencies. Lancet Infect. Dis. 11:780-792. http://dx.doi.org/10.1016/S1473-3099(11)70217-1.
67. Weaver, C.T., R.D. Hatton, P.R. Mangan, and L.E. Harrington. 2007. IL-17 family cytokines and the expanding diversity of effector T cell lineages. Annu. Rev. Immunol. 25:821-852. http://dx.doi.org/10.1146/annurev.immunol.25.022106.141557.
68. Wildbaum, G., E. Shahar, R. Katz, N. Karin, A. Etzioni, and S. Pollack. 2013. Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion. J. Allergy Clin. Immunol. 132:761-764. http://dx.doi.org/10.1016/j.jaci.2013.04.018.
69. Wright, J.F., F. Bennett, B. Li, J. Brooks, D.P. Luxenberg, M.J. Whitters, K.N. Tomkinson, L.J. Fitz, N.M. Wolfman, M. Collins, et al. 2008. The human IL-17F/IL-17A heterodimeric cytokine signals through the IL-17RA/IL-17RC receptor complex. J. Immunol. 181:2799-2805. http://dx.doi.org/10.4049/jimmunol.181.4.2799.
70. Yamazaki, Y., M. Yamada, T. Kawai, T. Morio, M. Onodera, M. Ueki, N. Watanabe, H. Takada, S. Takezaki, N. Chida, et al. 2014. Two novel gainof-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. J. Immunol. 193:4880-4887. http://dx.doi.org/10.4049/jimmunol.1401467.