A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis

BMJ Case Reports

Volumn 2015, Issue , 2015, Pages

  Nielsen, Jakob ^a   Kofod Olsen, Emil ^a   Spaun, Eva ^a   Larsen, Carsten S ^a   Christiansen, Mette ^a   Mogensen, Trine Hyrup ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CIPROFLOXACIN; COTRIMOXAZOLE; DICLOXACILLIN; FLUCONAZOLE; ISOTRETINOIN; METHOTREXATE; METRONIDAZOLE; STAT1 PROTEIN; SULFADIAZINE; TERBINAFINE; ANTIFUNGAL AGENT; ANTIINFECTIVE AGENT; IL17A PROTEIN, HUMAN; INTERLEUKIN 17; STAT1 PROTEIN, HUMAN;

ADULT; ARTICLE; BACTERIUM CULTURE; CASE REPORT; CONTROLLED STUDY; DERMATOPHYTOSIS; FEMALE; FUNGUS CULTURE; GAIN OF FUNCTION MUTATION; GENE IDENTIFICATION; GENETIC VARIABILITY; GENODERMATOSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERKERATOSIS; IMMUNE DEFICIENCY; IMMUNE RESPONSE; MUCOCUTANEOUS CANDIDIASIS; PATHOGENESIS; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; PSEUDOMONAS INFECTION; PSORIASIS; PUNCH BIOPSY; SKIN ABSCESS; SKIN MANIFESTATION; STAT1 GENE; TH17 CELL; THRUSH; TRICHOPHYTON; TRICHOPHYTON METAGROPHYTES; ABSCESS; CANDIDIASIS, CHRONIC MUCOCUTANEOUS; DEFICIENCY; FOOT DERMATOSES; GENETICS; KERATODERMA, PALMOPLANTAR, EPIDERMOLYTIC; MUTATION; SKIN DISEASES, INFECTIOUS; TINEA;

ABSCESS; ADULT; ANTI-BACTERIAL AGENTS; ANTIFUNGAL AGENTS; CANDIDIASIS, CHRONIC MUCOCUTANEOUS; FEMALE; FOOT DERMATOSES; HUMANS; INTERLEUKIN-17; KERATODERMA, PALMOPLANTAR, EPIDERMOLYTIC; MUTATION; SKIN DISEASES, INFECTIOUS; STAT1 TRANSCRIPTION FACTOR; TINEA;

EID: 84951802318     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr-2015-211372     Document Type: Article

References (42)

1. Kirkpatrick CH. Chronic mucocutaneous candidiasis. J Am Acad Dermatol 1994;31(3 Pt 2):S14-17.
2. Puel A, Cypowyj S, Maródi L, et al. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol 2012;12:616-22.
3. Puel A, Picard C, Cypowyj S, et al. Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines? Curr Opin Immunol 2010;22:467-74.
4. Glocker EO, Hennigs A, Nabavi M, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med 2009;361:1727-35.
5. Germain M, Gourdeau M, Hebert J. Case report: familial chronic mucocutaneous candidiasis complicated by deep candida infection. Am J Med Sci 1994;307:282-3.
6. Shama SK, Kirkpatrick CH. Dermatophytosis in patients with chronic mucocutaneous candidiasis. J Am Acad Dermatol 1980;2:285-94.
7. Lilic D. Unravelling fungal immunity through primary immune deficiencies. Curr Opin Microbiol 2012;15:420-6.
8. Eyerich K, Rombold S, Foerster S, et al. Altered, but not diminished specific T cell response in chronic mucocutaneous candidiasis patients. Arch Dermatol Res 2007;299:475-81.
9. Chipps BE, Saulsbury FT, Hsu SH, et al. Non-candidal infections in children with chronic mucocutaneous candidiasis. Johns Hopkins Med J 1979;144:175-9.
10. Tóth B, Méhes L, Taskó S, et al. Herpes in STAT1 gain-of-function mutation [corrected]. Lancet 2012;379:2500.
11. Lilic D. New perspectives on the immunology of chronic mucocutaneous candidiasis. Curr Opin Infect Dis 2002;15:143-7.
12. Coleman R, Hay RJ. Chronic mucocutaneous candidosis associated with hypothyroidism: a distinct syndrome? Br J Dermatol 1997;136:24-9.
13. Liu L, Okada S, Kong XF, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med 2011;208:1635-48.
14. Smeekens SP, Plantinga TS, van de Veerdonk FL, et al. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS ONE 2011;6:e29248.
15. van de Veerdonk FL, Plantinga TS, Hoischen A, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med 2011;365:54-61.
16. Hori T, Ohnishi H, Teramoto T, et al. Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. J Clin Immunol 2012;32:1213-20.
17. Williamson DM. Chronic hyperplastic candidiasis and squamous carcinoma. Br J Dermatol 1969;81:125-7.
18. Koch D, Lilic D, Carmichael AJ. Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma. Clin Exp Dermatol 2009;34:e818-20.
19. Leroy D, Dompmartin A, Houtteville JP, et al. Aneurysm associated with chronic mucocutaneous candidiasis during long-term therapy with ketoconazole. Dermatologica 1989;178:43-6.
20. Grouhi M, Dalal I, Nisbet-Brown E, et al. Cerebral vasculitis associated with chronic mucocutaneous candidiasis. J Pediatr 1998;133:571-4.
21. Marazzi MG, Bondi E, Giannattasio A, et al. Intracranial aneurysm associated with chronic mucocutaneous candidiasis. Eur J Pediatr 2008;167:461-3.
22. Cua DJ, Tato CM. Innate IL-17-producing cells: the sentinels of the immune system. Nat Rev Immunol 2010;10:479-89.
23. McDonald DR. TH17 deficiency in human disease. J Allergy Clin Immunol 2012;129:1429-35.
24. Vautier S, Sousa MG, Brown GD. C-type lectins, fungi and Th17 responses. Cytokine Growth Factor Rev 2010;21:405-12.
25. Kagami S, Rizzo HL, Kurtz SE, et al. IL-23 and IL-17A, but not IL-12 and IL-22, are required for optimal skin host defense against Candida albicans. J Immunol 2010;185:5453-62.
26. Milner JD, Brenchley JM, Laurence A, et al. Impaired T (H) 17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature 2008;452:773-6.
27. Mogensen TH. STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties. JAKSTAT 2013;2:e23435.
28. Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 2009;361:2046-55.
29. de Beaucoudrey L, Puel A, Filipe-Santos O, et al. Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med 2008;205:1543-50.
30. Hambleton S, Salem S, Bustamante J, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med 2011;365:127-38.
31. Feske S, Picard C, Fischer A. Immunodeficiency due to mutations in ORAI1 and STIM1. Clin Immunol 2010;135:169-82.
32. Puel A, Cypowyj S, Bustamante J, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 2011;332:65-8.
33. Kisand K, Bøe Wolff AS, Podkrajsek KT, et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med 2010;207:299-308.
34. Puel A, Döffinger R, Natividad A, 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;207:291-7.
35. Diveu C, McGeachy MJ, Boniface K, et al. IL-27 blocks RORc expression to inhibit lineage commitment of Th17 cells. J Immunol 2009;182:5748-56.
36. Ramgolam VS, Sha Y, Jin J, et al. IFN-beta inhibits human Th17 cell differentiation. J Immunol 2009;183:5418-27.
37. Takezaki S, Yamada M, Kato M, et al. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol 2012;189:1521-6.
38. Yamazaki Y, Yamada M, Kawai T, et al. Two novel gain-of-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 2014;193:4880-7.
39. Boisson-Dupuis S, Kong XF, Okada S, et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol 2012;24:364-78.
40. Hald A, Andrés RM, Salskov-Iversen ML, et al. STAT1 expression and activation is increased in lesional psoriatic skin. Br J Dermatol 2013;168:302-10.
41. Dupuis S, Dargemont C, Fieschi C, et al. Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science 2001;293:300-3.
42. Dupuis S, Jouanguy E, Al-Hajjar S, et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 2003;33:388-91.