Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus - Steiner, Annemarie; Reygaerts, Thomas; Pontillo, Alessandra; Ceccherini, Isabella; Moecking, Jonas; Moghaddas, Fiona; Davidson, Sophia; Caroli, Francesco; Grossi, Alice; Castro, Fabio Fernandes Morato; Kalil, Jorge; Gohr, Florian N.; et al. (Journal of clinical immunology, 2022)
Keywords: Arthralgia; Biomedical and Life Sciences; Biomedicine; Calcium-Binding Proteins - genetics; CARD Signaling Adaptor Proteins - genetics; CARD Signaling Adaptor Proteins - metabolism; Cell activation; Cell lines; Colitis, Ulcerative - diagnosis; Colitis, Ulcerative - genetics; Corticosteroids; Diarrhea; Enterocolitis; Female; Fever; Genome-Wide Association Study; Genomes; Hereditary Autoinflammatory Diseases; Humans; IL-1β; Immunology; Infectious Diseases; Inflammasomes; Inflammasomes - metabolism; Inflammatory bowel disease; Inflammatory bowel diseases; Inflammatory diseases; Interleukin 18; Internal Medicine; Macrophages; Medical Microbiology; Medical treatment; Middle Aged; Mutation; Nucleotide sequence; Original; Original Article; Pathogenicity; Patients; Pyroptosis; Risk factors; Ulcerative colitis; Uveitis; NLRC4-associated autoinflammatory disease; inflammasome; ulcerative colitis