title: TNFRSF1A Gene Causing Tumor Necrosis Factor Receptor-associated Periodic Syndrome in 2 Siblings Displaying Variable Disease Severity and Discordant Heterozygosity for an MEFV E148Q Variant.
authors.affiliation: Department of Child Health, Sultan Qaboos University Hospital; reemabd@hotmail.com.
authors.forename: Reem
authors.initials: R
authors.lastname: Abdwani
authors.affiliation: Department of Child Health, Sultan Qaboos University Hospital;
authors.forename: Eiman
authors.initials: E
authors.lastname: Abdalla
authors.affiliation: Department of Pediatrics, Royal Hospital;
authors.forename: Safiya
authors.initials: S
authors.lastname: Al Abrawi
authors.affiliation: Department of Clinical Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Khalid
authors.initials: K
authors.lastname: Al-Thihli
mesh_terms: D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005334:Fever / Q000175:diagnosis* / Q000235:genetics; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D012720:Severity of Illness Index; D035781:Siblings
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I