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Case Reports
. 2020 Apr;140(4):791-798.e2.
doi: 10.1016/j.jid.2019.06.153. Epub 2019 Sep 9.

VSports最新版本 - Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria

Eman Assrawi  1 , Camille Louvrier  2 , Clémence Lepelletier  3 , Sophie Georgin-Lavialle  4 , Jean-David Bouaziz  3 , Fawaz Awad  5 , Florence Moinet  6 , Philippe Moguelet  7 , Marie Dominique Vignon-Pennamen  8 , William Piterboth  9 , Claire Jumeau  1 , Laetitia Cobret  1 , Elma El Khouri  1 , Bruno Copin  9 , Philippe Duquesnoy  1 , Marie Legendre  2 , Gilles Grateau  4 , Sonia A Karabina  1 , Serge Amselem  10 , Irina Giurgea  11
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Free article
Case Reports

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria

Eman Assrawi et al. J Invest Dermatol. 2020 Apr.
Free article

Abstract

Chronic urticaria is a common skin disorder with heterogeneous causes. In the absence of physical triggers, chronic urticarial rash is called idiopathic or spontaneous VSports手机版. The objective of this study was to identify the molecular and cellular bases of a disease condition displayed by two unrelated patients aged over 60 years who presented for two decades with a chronic urticaria resistant to standard therapy that occurred in the context of systemic inflammation not triggered by cold. In both patients, a targeted sequencing approach using a next generation technology identified somatic mosaic mutations in NLRP3, a gene encoding a key inflammasome component. The study of several of both patients' cell types showed that, despite the late onset of the disease, NLRP3 mutations were not found to be restricted to myelomonocytic cells. Rather, the data obtained strongly suggested that the mutational event occurred very early, during embryonic development. As shown by functional studies, the identified mutations-an in-frame deletion and a recurrent NLRP3 missense mutation-have a gain-of-function effect on NLRP3-inflammasome activation. Consistently, a complete remission was obtained in both patients with anti-IL-1 receptor antagonists. This study unveils that in late-onset chronic urticaria, the search for autoinflammatory markers and somatic mosaic NLRP3 mutations may have important diagnostic and therapeutic consequences. .

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