title: A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?
abstract: Blau syndrome/early-onset sarcoidosis (Blau/EOS) is an autoinflammatory disease characterized by granulomatous arthritis, uveitis, and skin rash. It has been shown that gain-of-function NOD2 mutations cause Blau/EOS. In this paper, we describe a patient with a gain-of-function NOD2 mutation who developed infantile Takayasu arteritis, which is rare in Blau/EOS, but who has not yet had significant granulomatous changes in joints, eyes, or skin. We suspect that this case is an unusual phenotype of Blau/EOS.
authors: Department of Pediatrics, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba, Chiba 260-8670, Japan. yuzaburo@chiba-u.jp
authors: Yuzaburo
authors: Y
authors: Inoue
authors: Yasushi
authors: Y
authors: Kawaguchi
authors: Naoki
authors: N
authors: Shimojo
authors: Kenichi
authors: K
authors: Yamaguchi
authors: Yoshinori
authors: Y
authors: Morita
authors: Taiji
authors: T
authors: Nakano
authors: Takayasu
authors: T
authors: Arima
authors: Minako
authors: M
authors: Tomiita
authors: Yoichi
authors: Y
authors: Kohno
mesh_terms: D001168:Arthritis; D003389:Cranial Nerve Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D012507:Sarcoidosis / Q000175:diagnosis / Q000235:genetics*; D013585:Synovitis / Q000175:diagnosis / Q000235:genetics*; D013625:Takayasu Arteritis / Q000175:diagnosis / Q000235:genetics*; D014605:Uveitis / Q000175:diagnosis / Q000235:genetics*; D056660:Hereditary Autoinflammatory Diseases
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein