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The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 (2016)

  • Authors:
  • USP affiliated authors: JACOB, CRISTINA MIUKI ABE - FM ; SAMPAIO, MAGDA MARIA SALES CARNEIRO - FM
  • USP Schools: FM; FM
  • DOI: 10.1007/s10875-015-0214-9
  • Subjects: ESTUDOS DE COORTES; MUTAÇÃO GENÉTICA; INFECÇÕES OPORTUNISTAS; CANDIDÍASE (FISIOPATOLOGIA;DIAGNÓSTICO)
  • Language: Inglês
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    Informações sobre o DOI: 10.1007/s10875-015-0214-9 (Fonte: oaDOI API)
    • Este periódico é de assinatura
    • Este artigo é de acesso aberto
    • URL de acesso aberto
    • Cor do Acesso Aberto: hybrid
    • Licença: cc-by
    Versões disponíveis em Acesso Aberto do: 10.1007/s10875-015-0214-9 (Fonte: Unpaywall API)

    Título do periódico: Journal of Clinical Immunology

    ISSN: 0271-9142,1573-2592

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    Informações sobre o Citescore
  • Título: Journal of Clinical Immunology

    ISSN: 0271-9142

    Citescore - 2017: 3.27

    SJR - 2017: 1.611

    SNIP - 2017: 1.055


  • Exemplares físicos disponíveis nas Bibliotecas da USP
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    FM2760261-10BCSEP^064^2016
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    • ABNT

      DEPNER, Mark; FUCHS, Sebastian; RAABE, Jan; et al. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. Journal of Clinical Immunology, New York, Springer, v. 36, n. 1, p. 73-84, 2016. Disponível em: < http://link.springer.com/article/10.1007/s10875-015-0214-9 > DOI: 10.1007/s10875-015-0214-9.
    • APA

      Depner, M., Fuchs, S., Raabe, J., Frede, N., Glocker, C., Doffinger, R., et al. (2016). The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. Journal of Clinical Immunology, 36( 1), 73-84. doi:10.1007/s10875-015-0214-9
    • NLM

      Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder Jr. HW, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CMA, Carneiro-Sampaio M, Devlin LA, Edgar JDM, Henderson P, Russell RK, Skytte A-B, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 [Internet]. Journal of Clinical Immunology. 2016 ; 36( 1): 73-84.Available from: http://link.springer.com/article/10.1007/s10875-015-0214-9
    • Vancouver

      Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder Jr. HW, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CMA, Carneiro-Sampaio M, Devlin LA, Edgar JDM, Henderson P, Russell RK, Skytte A-B, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 [Internet]. Journal of Clinical Immunology. 2016 ; 36( 1): 73-84.Available from: http://link.springer.com/article/10.1007/s10875-015-0214-9

    Referências citadas na obra
    Kirkpatrick CH. Chronic mucocutaneous candidiasis. Pediatr Infect Dis J. 2001;20(2):197–206.
    Lilic D. New perspectives on the immunology of chronic mucocutaneous candidiasis. Curr Opin Infect Dis. 2002;15(2):143–7.
    Eyerich K, Eyerich S, Hiller J, Behrendt H, Traidl-Hoffmann C. Chronic mucocutaneous candidiasis, from bench to bedside. Eur J Dermatol. 2010;20(3):260–5.
    Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova J-L. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol. 2012;12(6):616–22.
    Conti HR, Shen F, Nayyar N, Stocum E, Sun JN, Lindemann MJ, et al. Th17 cells and IL-17 receptor signaling are essential for mucosal host defense against oral candidiasis. J Exp Med. 2009;206(2):299–311.
    Korn T, Bettelli E, Oukka M, Kuchroo VK. IL-17 and Th17 Cells. Annu Rev Immunol. 2009;27:485–517.
    Hernández-Santos N, Gaffen SL. Th17 cells in immunity to Candida albicans. Cell Host Microbe. 2012;11(5):425–35.
    Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058–62.
    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;205(7):1543–50.
    Ma CS, Chew GYJ, Simpson N, Priyadarshi A, Wong M, Grimbacher B, et al. Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. J Exp Med. 2008;205(7):1551–7.
    Milner JD, Brenchley JM, Laurence A, Freeman AF, Hill BJ, Elias KM, et al. Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature. 2008;452(7188):773–6.
    Glocker E-O, Hennigs A, Nabavi M, Schäffer AA, Woellner C, Salzer U, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med. 2009;361(18):1727–35.
    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;207(2):299–308.
    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;207(2):291–7.
    Sarkadi AK, Taskó S, Csorba G, Tóth B, Erdős M, Maródi L. Autoantibodies to IL-17A may be correlated with the severity of mucocutaneous candidiasis in APECED patients. J Clin Immunol. 2014;34(2):181–93.
    Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011;332(6025):65–8.
    Ling Y, Cypowyj S, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S, et al. Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. J Exp Med. 2015;212(5):619–31.
    Boisson B, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, et al. An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity. 2013;39(4):676–86.
    van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LAB, Gilissen C, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med. 2011;365(1):54–61.
    Liu L, Okada S, Kong X-F, Kreins AY, Cypowyj S, Abhyankar A, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011;208(8):1635–48.
    Smeekens SP, Plantinga TS, van de Veerdonk FL, Heinhuis B, Hoischen A, Joosten LAB, et al. STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. PLoS ONE. 2011;6:e29248.
    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;32(6):1213–20.
    Tóth B, Méhes L, Taskó S, Szalai Z, Tulassay Z, Cypowyj S, et al. Herpes in STAT1 gain-of-function mutation [corrected]. Lancet. 2012;379(9835):2500.
    Takezaki S, Yamada M, Kato M, Park M-J, Maruyama K, Yamazaki Y, et al. Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. J Immunol. 2012;189(3):1521–6.
    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;163(1):277–9.
    Soltész B, Tóth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, et al. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet. 2013;50(9):567–78.
    Aldave JC, Cachay E, Núñez L, Chunga A, Murillo S, Cypowyj S, et al. A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation. J Clin Immunol. 2013;33(8):1273–5.
    Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J Allergy Clin Immunol. 2013;131(6):1611–23.
    Mekki N, Ben-Mustapha I, Liu L, Boussofara L, Okada S, Cypowyj S, et al. IL-17 T cells’ defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation. J Investig Dermatol. 2014;134(4):1155–7.
    Wildbaum G, Shahar E, Katz R, Karin N, Etzioni A, Pollack S. Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: complete clinical remission with restoration of IL-17 secretion. J Allergy Clin Immunol. 2013;132(3):761–4.
    Frans G, Moens L, Schaballie H, Van Eyck L, Borgers H, Wuyts M, et al. Gain-of-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. 2014;134(5):1209–13.e6.
    Mizoguchi Y, Tsumura M, Okada S, Hirata O, Minegishi S, Imai K, et al. Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. J Leukoc Biol. 2014;95(4):667–76.
    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;135(2):551–3.
    Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, et al. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol. 2013;131(6):1624–34.
    Atkinson TP, Schäffer AA, Grimbacher B, Schroeder Jr HW, 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;69(4):791–803.
    Myhre AG, Stray-Pedersen A, Spangen S, Eide E, Veimo D, Knappskog PM, et al. Chronic mucocutaneous candidiasis and primary hypothyroidism in two families. Eur J Pediatr. 2004;163(10):604–11.
    Grouhi M, Dalal I, Nisbet-Brown E, Roifman CM. Cerebral vasculitis associated with chronic mucocutaneous candidiasis. J Pediatr. 1998;133(4):571–4.
    Marazzi MG, Bondi E, Giannattasio A, Strozzi M, Savioli C. Intracranial aneurysm associated with chronic mucocutaneous candidiasis. Eur J Pediatr. 2008;167(4):461–3.
    Amino N, Hidaka Y. Chronic (Hashimoto’s) thyroiditis. In: DeGroot LJ, Jameson JL, editors. Endocrinology. 5th ed. Philadelphia: Elsevier Saunders; 2006. p. 2055–67.
    Staab J, Barth PJ, Meyer T. Cell-type-specific expression of STAT transcription factors in tissue samples from patients with lymphocytic thyroiditis. Endocr Pathol. 2012;23(3):141–50.
    Park ES, Kim H, Suh JM, Park SJ, Kwon OY, Kim YK, et al. Thyrotropin induces SOCS-1 (suppressor of cytokine signaling-1) and SOCS-3 in FRTL-5 thyroid cells. Mol Endocrinol. 2000;14(3):440–8.
    Romberg N, Morbach H, Lawrence MG, Kim S, Kang I, Holland SM, et al. Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival. J Allergy Clin Immunol. 2013;131(6):1691–3.
    Kumar N, Hanks ME, Chandrasekaran P, Davis BC, Hsu AP, Van Wagoner NJ, et al. Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis. J Allergy Clin Immunol. 2014;134(1):236–9.
    Lee PPW, Mao H, Yang W, Chan K-W, Ho MHK, Lee T-L, et al. Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations. J Allergy Clin Immunol. 2014;133(3):894–6.e5.
    Yamazaki Y, Yamada M, Kawai T, Morio T, Onodera M, Ueki M, 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(10):4880–7.