Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition.

Scott W Canna, Charlotte Girard, Louise Malle, Adriana de Jesus, Neil Romberg, Judith Kelsen, Lea F Surrey, Pierre Russo, Andrew Sleight, Eduardo Schiffrin, Cem Gabay, Raphaela Goldbach-Mansky, Edward M Behrens

Journal: The Journal of allergy and clinical immunology 2019;139(5):1698-1701

PMID: 27876626

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Abstract

NLRC4-inflammasome hyperactivity causes infantile-onset Macrophage Activation Syndrome and enterocolitis with extraordinary serum IL-18 elevation (NLRC4-MAS). Herein, we report a critically ill infant with severe, refractory NLRC4-MAS who showed sustained response to treatment with experimental IL-18 inhibition.

Address: Intramural Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Md. Electronic address: [email protected].; Division of Rheumatology, Department of Internal Medicine Specialties, University Hospitals of Geneva, Geneva, Switzerland.; Intramural Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Md.; Children's Hospital of Philadelphia, Philadelphia, Pa.; AB2Bio, Ltd, Lausanne, Switzerland.

DOI: 10.1016/j.jaci.2016.10.022

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MeSH Terms: Autoimmunity, CARD Signaling Adaptor Proteins, Calcium-Binding Proteins, Enterocolitis, Female, Gene Expression Profiling, Humans, Infant, Inflammasomes, Inflammation, Intercellular Signaling Peptides and Proteins, Interleukin-18, Macrophage Activation Syndrome, Mutation, Paramyxoviridae, Paramyxoviridae Infections, Polymorphism, Genetic, Treatment Outcome, Exome Sequencing