Li Wang Wen Wen Mengyue Deng Yue Li Gan Sun Xiaodong Zhao Xuemei Tang Huawei Mao
10.3389/fimmu.2021.674808
Front Immunol
2021 Jun 23;12:674808.
nlrc4 autoinflammatory disease mild phenotype novel mutation urticaria
CC BY
https://pubmed.ncbi.nlm.nih.gov/34248956/
CARD Signaling Adaptor Proteins / genetics Calcium-Binding Proteins / genetics Hereditary Autoinflammatory Diseases / genetics Urticaria / genetics
CARD Signaling Adaptor Proteins / genetics Calcium-Binding Proteins / genetics Hereditary Autoinflammatory Diseases / genetics Urticaria / genetics Case Reports Research Support, Non-U.S. Gov't Adult Arthralgia / genetics CARD Signaling Adaptor Proteins / metabolism Calcium-Binding Proteins / metabolism Caspase 1 / metabolism Child, Preschool Cryopyrin-Associated Periodic Syndromes / genetics Cytokines / metabolism Enterocolitis / genetics Female Genetic Diseases, Inborn Hereditary Autoinflammatory Diseases / diagnosis Humans Inflammasomes Inflammation / genetics Macrophage Activation Syndrome / genetics Male Molecular Structure Mutation CARD Signaling Adaptor Proteins Calcium-Binding Proteins Cytokines Inflammasomes NLRC4 protein, human Caspase 1
PMC8260849
34248956
A Novel Mutation in the NBD Domain of NLRC4 Causes Mild Autoinflammation With Recurrent Urticaria
2021