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Journal of Clinical Immunology

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01-08-2018 | Letter to Editor

Double Trouble? CMC with a Mutation in both AIRE and STAT1

Authors: Huda Al Dhanhani, Tariq Al Shehri, Desa Lilic, Mark Buddles, Kai Kisand, Maria E. Maccari, Timothy Ronan Leahy

Published in: Journal of Clinical Immunology | Issue 6/2018

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To the Editor, …

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Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome. Ann N Y Acad Sci. 2011;1246:77–91.CrossRefPubMed

Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, et al. Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity. 2015;42(6):1185–96.CrossRefPubMed

Liu L, Okada S, Kong XF, 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.CrossRefPubMedPubMedCentral

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.CrossRefPubMed

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. Blood. 2016;127(25):3154–64.CrossRefPubMedPubMedCentral

Sobh A, Chou J, Schneider L, Geha RS, Massaad MJ. Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. J Allergy Clin Immunol. 2016;138(1):297–9.CrossRefPubMed

Meesilpavikkai K, Dik WA, Schrijver B, et al. A novel heterozygous mutation in the STAT1 SH2 domain causes chronic mucocutaneous candidiasis, atypically diverse infections, autoimmunity, and impaired cytokine regulation. Front Immunol. 2017;8:274.CrossRefPubMedPubMedCentral

Higgins E, Al Shehri T, McAleer MA, 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.CrossRefPubMed

Title: Double Trouble? CMC with a Mutation in both AIRE and STAT1
Authors: Huda Al Dhanhani
Tariq Al Shehri
Desa Lilic
Mark Buddles
Kai Kisand
Maria E. Maccari
Timothy Ronan Leahy
Publication date: 01-08-2018
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 6/2018
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-018-0536-5

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