Article
Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.
Frontiers in immunology - 1 Jan 2023
Nomani Hafsa, Deng Zuoming, Navetta-Modrov Brianne, Yang Jie, Yun Mark, Aroniadis Olga, Gorevic Peter, Aksentijevich Ivona, Yao Qingping
Abstract excerpt
NOD-like receptors (NLRs) are intracellular sensors associated with systemic autoinflammatory diseases (SAIDs). We investigated the largest monocentric cohort of patients with adult-onset SAIDs for coinheritance of low frequency and rare mutations in NOD2 and other autoinflammatory genes. Sixty-three patients underwent molecular testing for SAID gene panels after extensive clinical workups. Whole exome sequencing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.