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Journal of Clinical Immunology

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01-08-2019 | Interferon | Letter to Editor

RNASEH2B Related Adult-Onset Interferonopathy

Authors: Tracy A. Briggs, Anindita Paul, Gillian Rice, Ariane L. Herrick

Published in: Journal of Clinical Immunology | Issue 6/2019

Excerpt

To the Editor, …

Rodero MP, Crow YJ. Type I interferon-mediated monogenic autoinflammation: the type I interferonopathies, a conceptual overview. J Exp Med. 2016;213(12):2527–38.CrossRefPubMedPubMedCentral

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015;167A(2):296–312.CrossRefPubMed

Rice GI, Forte GM, Szynkiewicz M, et al. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013;12(12):1159–69.CrossRefPubMedPubMedCentral

Pizzi S, Sertic S, Orcesi S, Cereda C, Bianchi M, Jackson AP, et al. Reduction of hRNase H2 activity in Aicardi Goutières syndrome cells leads to replication stress and genome instability. Hum Mol Genet. 2015;24(3):649–58.CrossRefPubMed

Rice GI, Melki I, Frémond ML, Briggs TA, Rodero MP, Kitabayashi N, et al. Assessment of type I interferon signaling in pediatric inflammatory disease. J Clin Immunol. 2017;37(2):123–32.CrossRefPubMed

Günther C, Kind B, Reijns MA, et al. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J Clin Invest. 2015;125(1):413–24.CrossRefPubMed

Bursztejn AC, Briggs TA, del Toro Duany Y, Anderson BH, O'Sullivan J, Williams SG, et al. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes. Br J Dermatol. 2015;173(6):1505–13.CrossRefPubMedPubMedCentral

Rutsch F, MacDougall M, Lu C, et al. A specific IFIH1 gain-of-function mutation causes Singleton-Merten Syndrome. Am J Hum Genet. 2015;96(2):275–82.CrossRefPubMedPubMedCentral

Title: RNASEH2B Related Adult-Onset Interferonopathy
Authors: Tracy A. Briggs
Anindita Paul
Gillian Rice
Ariane L. Herrick
Publication date: 01-08-2019
Publisher: Springer US
Keyword: Interferon
Published in: Journal of Clinical Immunology / Issue 6/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-019-00673-w

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