Lilic D. New perspectives on the immunology of chronic mucocutaneous candidiasis. Curr Opin Infect Dis. 2002 Apr. 15(2):143-7. [Medline].
Lilic D, Gravenor I, Robson N, Lammas DA, Drysdale P, Calvert JE, et al. Deregulated production of protective cytokines in response to Candida albicans infection in patients with chronic mucocutaneous candidiasis. Infect Immun. 2003 Oct. 71(10):5690-9. [Medline].
van de Veerdonk FL, Plantinga TS, Hoischen A, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011 Jul 7. 365(1):54-61. [Medline].
Al Rushood M, McCusker C, Mazer B, Alizadehfar R, Grimbacher B, Depner M, et al. 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. 2013 Mar 26. [Medline].
Hori T, Ohnishi H, Teramoto T, Tsubouchi K, Naiki T, Hirose Y, et al. Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. J Clin Immunol. 2012 Dec. 32(6):1213-20. [Medline].
Marazzi MG, Bondi E, Giannattasio A, Strozzi M, Savioli C. Intracranial aneurysm associated with chronic mucocutaneous candidiasis. Eur J Pediatr. 2007 Apr 19. [Medline].
Herrod HG. Chronic mucocutaneous candidiasis in childhood and complications of non-Candida infection: a report of the Pediatric Immunodeficiency Collaborative Study Group. J Pediatr. 1990 Mar. 116(3):377-82. [Medline].
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. [Medline].
Vazquez JA, Sobel JD. Mucosal candidiasis. Infect Dis Clin North Am. 2002 Dec. 16 (4):793-820. [Medline].
Brännström J, Hässler S, Peltonen L, Herrmann B, Winqvist O. Defect internalization and tyrosine kinase activation in Aire deficient antigen presenting cells exposed to Candida albicans antigens. Clin Immunol. 2006 Dec. 121(3):265-73. [Medline].
Lindh E, Brännström J, Jones P, Wermeling F, Hässler S, Betterle C, et al. Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. J Autoimmun. 2012 Oct 31. [Medline].
Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006 Aug. 91(8):2843-50. [Medline].
Valenzise M, Fierabracci A, Cappa M, et al. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily. Horm Res Paediatr. 2014. 82(2):127-32. [Medline].
Mora M, Hanzu FA, Pradas-Juni M, et al. New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. PLoS One. 2014. 9(7):e101616. [Medline]. [Full Text].
Collins SM, Dominguez M, Ilmarinen T, Costigan C, Irvine AD. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Br J Dermatol. 2006 Jun. 154(6):1088-93. [Medline].
Kisand K, Bøe Wolff AS, Podkrajsek KT, Tserel L, Link M, Kisand KV, et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med. 2010 Feb 15. 207 (2):299-308. [Medline].
Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010 Feb 15. 207 (2):291-7. [Medline].
Atkinson TP, Schäffer AA, Grimbacher B, Schroeder HW Jr, Woellner C, Zerbe CS, et al. An immune defect causing dominant chronic mucocutaneous candidiasis and thyroid disease maps to chromosome 2p in a single family. Am J Hum Genet. 2001 Oct. 69(4):791-803. [Medline].
Kisand K, Lilic D, Casanova JL, Peterson P, Meager A, Willcox N. Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications. Eur J Immunol. 2011 Jun. 41 (6):1517-27. [Medline].
Okada S, Puel A, Casanova JL, Kobayashi M. Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity. Clin Transl Immunology. 2016 Dec. 5 (12):e114. [Medline].
Minegishi Y, Saito M, Nagasawa M, Takada H, Hara T, Tsuchiya S, et al. Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J Exp Med. 2009 Jun 8. 206 (6):1291-301. [Medline].
de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, et al. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med. 2008 Jul 7. 205 (7):1543-50. [Medline].
Renner ED, Rylaarsdam S, Anover-Sombke S, Rack AL, Reichenbach J, Carey JC, et al. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol. 2008 Jul. 122 (1):181-7. [Medline].
Drewniak A, Gazendam RP, Tool AT, van Houdt M, Jansen MH, van Hamme JL, et al. Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency. Blood. 2013 Mar 28. 121 (13):2385-92. [Medline].
Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, et al. Deep dermatophytosis and inherited CARD9 deficiency. N Engl J Med. 2013 Oct 31. 369 (18):1704-14. [Medline].
Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, et al. Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds. Medicine (Baltimore). 2013 Mar. 92 (2):109-22. [Medline].
Ouederni M, Sanal O, Ikinciogullari A, Tezcan I, Dogu F, Sologuren I, et al. Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency. Clin Infect Dis. 2014 Jan. 58 (2):204-13. [Medline].
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Front Immunol. 2016 Jun 23. 127 (25):3154-64. [Medline].
Patiroglu T, Tahan F. Chronic mucocutaneous candidiasis with agammaglobulinaemia. J Eur Acad Dermatol Venereol. 2007 Jul. 21(6):833-4. [Medline].
Meager A, Visvalingam K, Peterson P, Möll K, Murumägi A, Krohn K, et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med. 2006 Jul. 3(7):e289. [Medline].
Masi M, De Vinci C, Baricordi OR. Transfer factor in chronic mucocutaneous candidiasis. Biotherapy. 1996. 9(1-3):97-103. [Medline].
Baris S, Alroqi F, Kiykim A, Karakoc-Aydiner E, Ogulur I, Ozen A, et al. Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1. J Clin Immunol. 2016 Oct. 36 (7):641-8. [Medline].
Higgins E, Al Shehri T, McAleer MA, Conlon N, Feighery C, Lilic D, et al. Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation. J Allergy Clin Immunol. 2015 Feb. 135 (2):551-3. [Medline].
Mössner R, Diering N, Bader O, Forkel S, Overbeck T, Gross U, et al. Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation. Clin Infect Dis. 2016 Apr 1. 62 (7):951-3. [Medline].
Hsia CC, Sun TT, Wang YY, Anderson LM, Armstrong D, Good RA. Enhancement of formation of the esophageal carcinogen benzylmethylnitrosamine from its precursors by Candida albicans. Proc Natl Acad Sci U S A. 1981 Mar. 78 (3):1878-81. [Medline].
[Guideline] Pappas PG, Kauffman CA, Andes DR, Clancy CJ, Marr KA, Ostrosky-Zeichner L, et al. Executive Summary: Clinical Practice Guideline for the Management of Candidiasis: 2016 Update by the Infectious Diseases Society of America. Clin Infect Dis. 2016 Feb 15. 62 (4):409-17. [Medline].