title: Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist.
authors.affiliation: Plateforme GENOMAX, Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Centre de Recherche d'Immunologie et d'Hématologie, Faculté de Médecine, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 4 Rue Kirschleger, 67085, Strasbourg Cedex, France.
authors.forename: R
authors.initials: R
authors.lastname: Carapito
authors.forename: B
authors.initials: B
authors.lastname: Isidor
authors.forename: N
authors.initials: N
authors.lastname: Guerouaz
authors.forename: M
authors.initials: M
authors.lastname: Untrau
authors.forename: M
authors.initials: M
authors.lastname: Radosavljevic
authors.forename: E
authors.initials: E
authors.lastname: Launay
authors.forename: E
authors.initials: E
authors.lastname: Cassagnau
authors.forename: C
authors.initials: C
authors.lastname: Frenard
authors.forename: H
authors.initials: H
authors.lastname: Aubert
authors.forename: B
authors.initials: B
authors.lastname: Romefort
authors.forename: C
authors.initials: C
authors.lastname: Le Caignec
authors.forename: L
authors.initials: L
authors.lastname: Ott
authors.forename: N
authors.initials: N
authors.lastname: Paul
authors.forename: S
authors.initials: S
authors.lastname: Barbarot
authors.forename: S
authors.initials: S
authors.lastname: Bahram
mesh_terms: D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006720:Homozygote; D006801:Humans; D007223:Infant; D007378:Interleukins / Q000172:deficiency* / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011565:Psoriasis / Q000235:genetics*
chemical_list: C122187:IL36RN protein, human; D007378:Interleukins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human