Anna E Patrick Eden M Lyons Lisa Ishii Alan S Boyd Joseph M Choi Anna K Dewan Janet G Markle
10.3389/fimmu.2021.775140
Front Immunol
2021 Nov 18;12:775140.
il-1 pathway nlrp3 nomid urticaria gene variant inflammasome monogenic diseases pediatric autoinflammatory disease
CC BY
https://pubmed.ncbi.nlm.nih.gov/34868041/
Cryopyrin-Associated Periodic Syndromes / diagnosis Cryopyrin-Associated Periodic Syndromes / genetics Mutation NLR Family, Pyrin Domain-Containing 3 Protein / genetics Phenotype Urticaria / diagnosis Urticaria / genetics
Cryopyrin-Associated Periodic Syndromes / diagnosis Cryopyrin-Associated Periodic Syndromes / genetics Mutation NLR Family, Pyrin Domain-Containing 3 Protein / genetics Phenotype Urticaria / diagnosis Urticaria / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Biomarkers Biopsy Child, Preschool DNA Mutational Analysis Female Genetic Association Studies Genetic Predisposition to Disease Humans Immunohistochemistry Skin / pathology Biomarkers NLR Family, Pyrin Domain-Containing 3 Protein NLRP3 protein, human
PMC8636939
34868041
Case Report: Infantile Urticaria as a Herald of Neonatal Onset Multisystem Inflammatory Disease With a Novel Mutation in NLRP3
2021