A rare case of uncharacterized autoinflammatory disease: Patient carrying variations in NLRP3 and TNFRSF1A genes

Tumor necrosis factor type 1A receptor‐associated periodic syndrome (TRAPS) and cryopyrin‐associated autoinflammatory syndrome (CAPS) are rare monogenic autoinflammatory diseases (AIDs) mainly caused by pathogenic variations in the TNFRSF1A and NLRP3 genes, respectively. Here, we describe a unique p...

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Veröffentlicht in:	American journal of medical genetics. Part A 2024-10, Vol.194 (10), p.e63715-n/a
Hauptverfasser:	Kilinc, Ozgur Can, Gayibova, Konul, Onen, Merve Ozkilinc, Onat, Umut Inci, Bülbül, Alper, Timucin, Ahmet Can, Ugurlu, Serdal, Turanli, Eda Tahir
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult autoinflammatory diseases Blood cells CAPS Conformation Cryopyrin Cryopyrin-Associated Periodic Syndromes - diagnosis Cryopyrin-Associated Periodic Syndromes - drug therapy Cryopyrin-Associated Periodic Syndromes - genetics Cryopyrin-Associated Periodic Syndromes - pathology Genetic analysis Genetic diversity Genetic Predisposition to Disease Hereditary Autoinflammatory Diseases - diagnosis Hereditary Autoinflammatory Diseases - drug therapy Hereditary Autoinflammatory Diseases - genetics Hereditary Autoinflammatory Diseases - pathology Humans Inflammasomes Inflammasomes - genetics Inflammatory diseases Interleukin-1beta - genetics Lipopolysaccharides Male Mutation - genetics NLR Family, Pyrin Domain-Containing 3 Protein - genetics NLRP3 Pathogenicity Phenotypes Phenotypic variations Rare diseases Receptors, Tumor Necrosis Factor, Type I - genetics TNFRSF1A TRAPS
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