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Erschienen in: Journal of Clinical Immunology 6/2022

13.05.2022 | Letter to Editor

Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis

verfasst von: Aurélien Guffroy, Yannick Dieudonné, Vincent Gies, François Danion, and Study group

Erschienen in: Journal of Clinical Immunology | Ausgabe 6/2022

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Excerpt

To the Editor
Anhänge
Nur mit Berechtigung zugänglich
Literatur
1.
Zurück zum Zitat Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371:507–18 (Massachusetts Medical Society).CrossRef Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371:507–18 (Massachusetts Medical Society).CrossRef
2.
Zurück zum Zitat Seo J, Kang J-A, Suh DI, Park E-B, Lee C-R, Choi SA, et al. Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173. J Allergy Clin Immunol. 2017;139:1396-1399.e12.CrossRef Seo J, Kang J-A, Suh DI, Park E-B, Lee C-R, Choi SA, et al. Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173. J Allergy Clin Immunol. 2017;139:1396-1399.e12.CrossRef
3.
Zurück zum Zitat Melki I, Rose Y, Uggenti C, Van Eyck L, Frémond M-L, Kitabayashi N, et al. Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling. J Allergy Clin Immunol. 2017;140:543-552.e5.CrossRef Melki I, Rose Y, Uggenti C, Van Eyck L, Frémond M-L, Kitabayashi N, et al. Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling. J Allergy Clin Immunol. 2017;140:543-552.e5.CrossRef
4.
Zurück zum Zitat Frémond M-L, Hadchouel A, Berteloot L, Melki I, Bresson V, Barnabei L, et al. Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients. J Allergy Clin Immunol Pract. 2021;9:803-818.e11.CrossRef Frémond M-L, Hadchouel A, Berteloot L, Melki I, Bresson V, Barnabei L, et al. Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients. J Allergy Clin Immunol Pract. 2021;9:803-818.e11.CrossRef
5.
Zurück zum Zitat Clarke SLN, Robertson L, Rice GI, Seabra L, Hilliard TN, Crow YJ, et al. Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype. Pediatr Rheumatol Online J. 2020;18:37.CrossRef Clarke SLN, Robertson L, Rice GI, Seabra L, Hilliard TN, Crow YJ, et al. Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype. Pediatr Rheumatol Online J. 2020;18:37.CrossRef
Metadaten
Titel
Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis
verfasst von
Aurélien Guffroy
Yannick Dieudonné
Vincent Gies
François Danion
and Study group
Publikationsdatum
13.05.2022
Verlag
Springer US
Erschienen in
Journal of Clinical Immunology / Ausgabe 6/2022
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-022-01284-8

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