A new infant case of nakajo-nishimura syndrome with a genetic mutation in the immunoproteasome subunit: An overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations

Dermatology

Volumn 227, Issue 1, 2013, Pages 26-30

  Kunimoto, Kayo ^a,b   Kimura, Ayako ^a,b   Uede, Koji ^b   Okuda, Masumi ^b,c   Aoyagi, Noriyuki ^b   Furukawa, Fukumi ^a   Kanazawa, Nobuo ^a  

^a WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^b WAKAYAMA ROSAI HOSPITAL   (Japan)

^c Hyogo College of Medicine   (Japan)

Author keywords

Immunoproteasome; Nakajo Nishimura syndrome; Partial lipodystrophy; PSMB8 mutation

Indexed keywords

ALANINE AMINOTRANSFERASE; ANTIBIOTIC AGENT; ASPARTATE AMINOTRANSFERASE; BETAMETHASONE; CORTICOSTEROID; IMMUNOGLOBULIN G ANTIBODY; IMMUNOGLOBULIN M ANTIBODY; METHOTREXATE; PROTEASOME;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; AUTOINFLAMMATORY DISEASE; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BLEEDING; BRAIN CALCIFICATION; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CORTICOSTEROID THERAPY; CYTOMEGALOVIRUS INFECTION; DIGITAL CLUBBING; ERYTHEMA; ERYTHROPHAGOCYTOSIS; FEVER; FINGER MALFORMATION; FRONTAL LOBE; GENE; GENE MUTATION; HEPATOSPLENOMEGALY; HISTOPATHOLOGY; HUMAN; INTERPHALANGEAL JOINT; JOINT SWELLING; LEUKOCYTE COUNT; LUPUS ERYTHEMATOSUS; LYMPHOCYTOSIS; MALE; NAKAJO NISHIMURA SYNDROME; PANNICULITIS; PONS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSMB8 GENE; RASH; SKIN DEFECT; SKIN NECROSIS; SKIN ULCER; WHITE MATTER;

ANTI-INFLAMMATORY AGENTS; BETAMETHASONE; CHILD, PRESCHOOL; DERMATOLOGIC AGENTS; ERYTHEMA NODOSUM; FINGERS; HEPATOMEGALY; HUMANS; MALE; METHOTREXATE; MUTATION; PROTEASOME ENDOPEPTIDASE COMPLEX; SPLENOMEGALY;

EID: 84885649937     PISSN: 10188665     EISSN: 14219832     Source Type: Journal    
DOI: 10.1159/000351323     Document Type: Article

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