Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature

Frontiers in Immunology

卷:11

Yanick J. Crow²  Adrian Liston³  Frederik Staels⁵  Rik Schrijvers⁵  Stephanie Humblet-Baron⁵  Albrecht Betrains⁶  Steven Vanderschueren⁶  Ben Sprangers⁷  Peter Doubel⁸  Vincent Cleemput⁹  Anniek Corveleyn¹⁰  Isabelle Meyts¹¹  Mathijs Willemsen¹² 

[1] 0Centre for Genomic Medicine, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, United Kingdom;

[2] 1Laboratory of Neurogenetics and Neuroinflammation, Université de Paris, Paris, France;

[3] 2Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;

[4] Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, Belgium;

[5] Department of Microbiology, Immunology and Transplantation, Immunogenetics Research Group, KU Leuven, Leuven, Belgium;

[6] Department of Microbiology, Immunology and Transplantation, Laboratory for Clinical Infectious and Inflammatory Disease, KU Leuven, Leuven, Belgium;

[7] Department of Microbiology, Immunology and Transplantation, Molecular Immunology, KU Leuven, Leuven, Belgium;

[8] Department of Nephrology, AZ Groeninge, Kortrijk, Belgium;

[9] Department of Pathology, University Hospitals KU Leuven, Leuven, Belgium;

[10] Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium;

[11] Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium;

[12] VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium;

关键词: SAVI;    vasculopathy;    glomerulonephritis;    primary immunodeficiency;    interferonopathy;   

DOI  :  10.3389/fimmu.2020.575219

来源: DOAJ

【 摘 要 】

STING-associated vasculopathy with onset in infancy (SAVI) is an autosomal dominant disorder due to gain-of-function mutations in STING1, also known as TMEM173, encoding for STING. It was reported as a vasculopathy of infancy. However, since its description a wider spectrum of associated manifestations and disease-onset has been observed. We report a kindred with a heterozygous STING mutation (p.V155M) in which the 19-year-old proband suffered from isolated adult-onset ANCA-associated vasculitis. His father suffered from childhood-onset pulmonary fibrosis and renal failure attributed to ANCA-associated vasculitis, and died at the age of 30 years due to respiratory failure. In addition, an overview of the phenotypic spectrum of SAVI is provided highlighting (a) a high phenotypic variability with in some cases isolated manifestations, (b) the potential of adult-onset disease, and (c) a novel manifestation with ANCA-associated vasculitis.

【 授权许可】

Unknown