NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood

Autor: Juliette Bardet, Noémie Laverdure, Mathieu Fusaro, Capucine Picard, Lorna Garnier, Sébastien Viel, Sophie Collardeau-Frachon, Jean-Marie De Guillebon, Isabelle Durieu, Clémence Casari-Thery, Guillaume Mortamet, Audrey Laurent, Alexandre Belot

Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine, 2021, 10 (19), pp.4369. ⟨10.3390/jcm10194369⟩
Volume 10
Issue 19
Journal of Clinical Medicine, Vol 10, Iss 4369, p 4369 (2021)

The NLRC4 inflammasome is part of the human immune innate system. Its activation leads to the cleavage of pro-inflammatory cytokines IL-1β and IL-18, promoting inflammation. NLRC4 gain-of-function (GOF) mutations have been associated with early-onse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0a11c53bce5e05d71f4175256523e734
https://pubmed.ncbi.nlm.nih.gov/34640385