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Erschienen in: Journal of Clinical Immunology 6/2018

27.07.2018 | Letter to Editor

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

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

Erschienen in: Journal of Clinical Immunology | Ausgabe 6/2018

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Excerpt

To the Editor, …
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Literatur
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Zurück zum Zitat 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 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
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Zurück zum Zitat 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 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
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Zurück zum Zitat 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 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
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Metadaten
Titel
Double Trouble? CMC with a Mutation in both AIRE and STAT1
verfasst von
Huda Al Dhanhani
Tariq Al Shehri
Desa Lilic
Mark Buddles
Kai Kisand
Maria E. Maccari
Timothy Ronan Leahy
Publikationsdatum
27.07.2018
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 6/2018
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-018-0536-5

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