title: First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.
authors.forename: Santiago
authors.initials: S
authors.lastname: Jiménez-Treviño
authors.forename: Eva
authors.initials: E
authors.lastname: González-Roca
authors.forename: Estibaliz
authors.initials: E
authors.lastname: Ruiz-Ortiz
authors.forename: Jordi
authors.initials: J
authors.lastname: Yagüe
authors.forename: Eduardo
authors.initials: E
authors.lastname: Ramos
authors.forename: Juan Ignacio
authors.initials: JI
authors.lastname: Aróstegui
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D056587:Cryopyrin-Associated Periodic Syndromes / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism; D009154:Mutation / Q000235:genetics; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human
keywords: Fever Syndromes; Inflammation; Qualitative research