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Master Thesis

Les syndromes périodiques associés à la cryopyrine : revue de la littérature et description des cas français avec mosaïcisme somatique

Abstract : Cryopyrin-associated periodic syndrome are three clinical forms of a rare autoinflammatory disorder from familial cold urticaria, the mild form, to the most severe form called chronic infantile neurological cutaneous and articular syndrome (CINCA), throught Muckle-Wells syndrome (MWS), the intermediate phenotype. Sensorineural hearing loss and renal amyloidosis can occur during the evolution. CAPS are due to gain-of-function mutations of NLRP3 gene, predominantly germline mutations. This results in an excessive activation of NLRP3 inflammasome and interleukin 1β processing leading to biological and clinical manifestations. These germline mutations are detectable with Sanger sequencing method. Sometimes, classically severe phenotypes of MWS and CINCA remain germline-mutation-negative patients. However, genetic diagnosis is crucial to access to interleukin 1 inhibitors that drastically improved quality of life of patients, and for genetic counselling. A finer analysis of Sanger sequence trace could suggest mosaicism, two or more populations of cells with distinct genotypes. Next-generation sequencing are recent technological advances that have provided us to assess mosaicism. In the literature, this genetic mechanism is involved in some CAPS and others auto-inflammatory diseases (MAI) physiopathology. Here, we present a CAPS review, mosaicism case reports of CAPS and MAI described in the literature and a description of french CAPS with mosaicism.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-01610756
Contributor : Jean-Hugues Morneau <>
Submitted on : Thursday, October 5, 2017 - 9:39:10 AM
Last modification on : Wednesday, July 15, 2020 - 8:58:04 AM

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  • HAL Id : dumas-01610756, version 1

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Charlotte Kevorkian-Verguet. Les syndromes périodiques associés à la cryopyrine : revue de la littérature et description des cas français avec mosaïcisme somatique. Médecine humaine et pathologie. 2017. ⟨dumas-01610756⟩

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