title: Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations.
authors.forename: I
authors.initials: I
authors.lastname: Touitou
authors.forename: C
authors.initials: C
authors.lastname: Perez
authors.forename: B
authors.initials: B
authors.lastname: Dumont
authors.forename: L
authors.initials: L
authors.lastname: Federici
authors.forename: C
authors.initials: C
authors.lastname: Jorgensen
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010375:Pedigree; D019683:Penetrance; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D018124:Receptors, Tumor Necrosis Factor