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.
Publication types
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Case Reports
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Letter
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Research Support, N.I.H., Extramural
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Autoimmunity / genetics
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CARD Signaling Adaptor Proteins / genetics*
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Calcium-Binding Proteins / genetics*
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Enterocolitis / diagnosis
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Enterocolitis / genetics*
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Enterocolitis / therapy
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Exome Sequencing
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Female
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Gene Expression Profiling
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Humans
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Infant
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Inflammasomes / genetics
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Inflammation / genetics
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Intercellular Signaling Peptides and Proteins / pharmacology
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Intercellular Signaling Peptides and Proteins / therapeutic use*
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Interleukin-18 / antagonists & inhibitors
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Macrophage Activation Syndrome / diagnosis
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Macrophage Activation Syndrome / genetics*
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Macrophage Activation Syndrome / therapy
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Mutation / genetics*
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Paramyxoviridae / immunology*
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Paramyxoviridae Infections / diagnosis
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Paramyxoviridae Infections / genetics*
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Paramyxoviridae Infections / therapy
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Polymorphism, Genetic
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Treatment Outcome
Substances
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CARD Signaling Adaptor Proteins
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Calcium-Binding Proteins
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Inflammasomes
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Intercellular Signaling Peptides and Proteins
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Interleukin-18
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NLRC4 protein, human
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interleukin-18 binding protein