title: Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
authors.forename: C M L
authors.initials: CM
authors.lastname: Volker-Touw
authors.affiliation: Department of Dermatology, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: H D
authors.initials: HD
authors.lastname: de Koning
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
authors.forename: J C
authors.initials: JC
authors.lastname: Giltay
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
authors.forename: C G F
authors.initials: CG
authors.lastname: de Kovel
authors.affiliation: Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
authors.forename: T S
authors.initials: TS
authors.lastname: van Kempen
authors.affiliation: Department of Pediatrics, Atrium-Orbis Medical Centre, Sittard, the Netherlands.
authors.forename: K M E J
authors.initials: KM
authors.lastname: Oberndorff
authors.affiliation: Department of Pediatric Immunology, Laboratory of Translational Immunology (LTI), University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
authors.forename: M L
authors.initials: ML
authors.lastname: Boes
authors.affiliation: Division of Cancer Research, School of Medicine, University of Dundee, Dundee, U.K.|Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.|Institute of Medical Biology, Singapore.
authors.forename: M A M
authors.initials: MA
authors.lastname: van Steensel
authors.affiliation: Department of Pediatrics, Maastricht University Medical Center, Maastricht, the Netherlands.
authors.forename: G T J
authors.initials: GT
authors.lastname: van Well
authors.affiliation: Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: W A M
authors.initials: WA
authors.lastname: Blokx
authors.affiliation: Department of Dermatology, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Schalkwijk
authors.affiliation: Department of General Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Simon
authors.affiliation: Department of Pediatrics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Frenkel
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, KE 04 133 1, P.O. Box 85090, 3508 AB, Utrecht, the Netherlands.
authors.forename: M E
authors.initials: ME
authors.lastname: van Gijn
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D018771:Arthralgia / Q000188:drug therapy / Q000235:genetics; D053468:CARD Signaling Adaptor Proteins / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D016207:Cytokines / Q000378:metabolism; D004760:Enterocolitis / Q000188:drug therapy / Q000235:genetics; D004890:Erythema / Q000235:genetics*; D005076:Exanthema / Q000188:drug therapy / Q000235:genetics; D005260:Female; D056660:Hereditary Autoinflammatory Diseases / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D014581:Urticaria / Q000188:drug therapy / Q000235:genetics
chemical_list: D053468:CARD Signaling Adaptor Proteins; D002135:Calcium-Binding Proteins; D016207:Cytokines; D053590:Interleukin 1 Receptor Antagonist Protein; C435692:NLRC4 protein, human