The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI (2014)
- Authors:
- Frede, Natalie
- Depner, Mark
- Raabe, J.
- Doffinger, Rainer
- Gkrania-Klotsas, E.
- Kumararatne, Dinakantha
- Atkinson, T. P.
- Schroeder, H. W.
- Niehues, T.
- Jacob, C. M. A.
- Carneiro-Sampaio, M. M. S.
- Duckers, G.
- Puck, J.
- Eisenstein, E. M.
- Stay-Pedersen, A.
- Bauman, U.
- Schmidt, R. E.
- Franco, J. L.
- Orrego, J. C.
- Ben-Shoshan, Moshe
- McCusker, Christine
- Devlin, Lisa A
- Edgar, J. D.
- Henderson, P.
- Dyrso, T.
- Seneviratne, Suranjith L.
- Wanders, Jennifer
- Stauss, H.
- Meyts, I.
- Moens, L.
- Jesenak, M.
- Grimbacher, Bodo
- USP affiliated authors: JACOB, CRISTINA MIUKI ABE - FM ; SAMPAIO, MAGDA MARIA SALES CARNEIRO - FM
- Unidade: FM
- Subjects: MUTAÇÃO GENÉTICA; CANDIDÍASE (CLASSIFICAÇÃO); MANIFESTAÇÕES CUTÂNEAS
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Clinical Immunology
- Volume/Número/Paginação/Ano: v. 34, supl 2, p. S339, 2014
- Conference titles: Biennal Meeting of the European Society for Immunodeficiencies/ ESID
-
ABNT
FREDE, Natalie et al. The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI. Journal of Clinical Immunology. New York: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 17 fev. 2026. , 2014 -
APA
Frede, N., Depner, M., Raabe, J., Doffinger, R., Gkrania-Klotsas, E., Kumararatne, D., et al. (2014). The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI. Journal of Clinical Immunology. New York: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Frede N, Depner M, Raabe J, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW, Niehues T, Jacob CMA, Carneiro-Sampaio MMS, Duckers G, Puck J, Eisenstein EM, Stay-Pedersen A, Bauman U, Schmidt RE, Franco JL, Orrego JC, Ben-Shoshan M, McCusker C, Devlin LA, Edgar JD, Henderson P, Dyrso T, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Grimbacher B. The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI. Journal of Clinical Immunology. 2014 ; 34 S339.[citado 2026 fev. 17 ] -
Vancouver
Frede N, Depner M, Raabe J, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW, Niehues T, Jacob CMA, Carneiro-Sampaio MMS, Duckers G, Puck J, Eisenstein EM, Stay-Pedersen A, Bauman U, Schmidt RE, Franco JL, Orrego JC, Ben-Shoshan M, McCusker C, Devlin LA, Edgar JD, Henderson P, Dyrso T, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Grimbacher B. The extended clinical phenotype of 36 patients with chronic mucocutaneous candidiasis due to gain of function mutations in STATI. Journal of Clinical Immunology. 2014 ; 34 S339.[citado 2026 fev. 17 ] - GH deficiency as the first endocrinopathy in a brazilian patient with an AIRE gene homozygous p326l mutation causing the APECED syndrome
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