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Certaines formes rares de LES sont caus\u00e9es par des mutations g\u00e9n\u00e9tiques sp\u00e9cifiques, contrairement \u00e0 la nature multifactorielle g\u00e9n\u00e9ralement associ\u00e9e \u00e0 la maladie. Ces formes monog\u00e9niques ont \u00e9t\u00e9 d\u00e9crites particuli\u00e8rement dans les cas de LES \u00e0 d\u00e9but p\u00e9diatrique. Leur d\u00e9couverte a permis une meilleure compr\u00e9hension de la physiopathologie du LES, mettant en lumi\u00e8re la grande complexit\u00e9 des pr\u00e9sentations cliniques. Nous proposons ici une classification bas\u00e9e sur les voies de signalisation sous-jacentes, impliquant la clairance des corps apoptotiques et des complexes immuns, les interf\u00e9rons de type I, les voies JAK-STAT, les r\u00e9cepteurs de l\u2019immunit\u00e9 inn\u00e9e et les fonctions lymphocytaires. Dans les formes p\u00e9diatriques, un test g\u00e9n\u00e9tique devrait \u00eatre propos\u00e9 syst\u00e9matiquement avec un rendement diagnostique autour de 10\u2009% selon la population et les approches utilis\u00e9es.<\/jats:p>","DOI":"10.1051\/jbio\/2024005","type":"journal-article","created":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T08:05:13Z","timestamp":1721030713000},"page":"9-18","source":"Crossref","is-referenced-by-count":1,"title":["Maladies auto-immunes rares\u00a0: place de la g\u00e9n\u00e9tique, exemple du lupus syst\u00e9mique"],"prefix":"10.1051","volume":"218","author":[{"given":"Maud","family":"Tusseau","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Belot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2024,7,15]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","unstructured":"Abel G., Agnello V. 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