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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 4/2018

01-05-2018 | Letter to Editor

Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation

Authors: Anna E. Smyth, Epp Kaleviste, Aisling Snow, Kai Kisand, Colin J. McMahon, Andrew J. Cant, T. Ronan Leahy

Published in: Journal of Clinical Immunology | Issue 4/2018

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Excerpt

To the editor, …
Appendix
Available only for authorised users
Literature
1.
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
2.
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
3.
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
4.
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.CrossRefPubMedPubMedCentral
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Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, et al. A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet. 2015;96(2):275–82.CrossRefPubMedPubMedCentral
6.
Al Shehri T, Abinun M, Gennery AR, et al. Is gain-of-function STAT1 CMC an interferonopathy? Clin Exp Immunol. 2015;182(S1):15.
7.
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
Metadata
Title
Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation
Authors
Anna E. Smyth
Epp Kaleviste
Aisling Snow
Kai Kisand
Colin J. McMahon
Andrew J. Cant
T. Ronan Leahy
Publication date
01-05-2018
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 4/2018
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-018-0513-z

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