Novel <i>AP3B1</i> compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2

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  • Takuro Nishikawa
    Department of Pediatrics Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan
  • Ken Okamura
    Department of Dermatology Faculty of Medicine Yamagata University Yamagata Japan
  • Mizuki Moriyama
    Department of Pediatrics Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan
  • Kenji Watanabe
    Lalala Children’s Clinic Kagoshima Japan
  • Atsuko Ibusuki
    Departments of Department of Dermatology Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan
  • Seiji Sameshima
    Department of Ophthalmology Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan
  • Izumi Masamoto
    Department of Laboratory Medicine Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan
  • Ieharu Yamazaki
    Research Institute BML Inc. Tokyo Japan
  • Kay Tanita
    Departments of Department of Pediatrics and Developmental Biology Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University Tokyo Japan
  • Takuro Kanekura
    Departments of Department of Dermatology Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan
  • Hirokazu Kanegane
    Department of Child Health and Development Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University Tokyo Japan
  • Tamio Suzuki
    Department of Dermatology Faculty of Medicine Yamagata University Yamagata Japan
  • Yoshifumi Kawano
    Department of Pediatrics Graduate School of Medical and Dental Sciences Kagoshima University Kagoshima Japan

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<jats:title>Abstract</jats:title><jats:p>Hermansky–Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding diathesis due to a storage pool deficiency and immunodeficiency. The disorder is caused by disruption of the adapter protein 3 complex, which is involved in impaired intracellular vesicle transport. Here, we report the first case of a 1‐year‐old girl with HPS2 in Asia. She had no specific symptoms other than OCA and neutropenia. We analyzed her platelet function using transmission electron microscopy and a platelet aggregation test, cytotoxic degranulation assay of her natural killer (NK) cells and bleeding time, the results of which led to the diagnosis of HPS2. Although her NK‐cell cytotoxic degranulation was impaired, she had not developed signs of hemophagocytic lymphohistiocytosis (HLH) or fibrosing lung disease. Molecular genetic analyses showed novel heterozygous mutations (c.188T>A [p.M63K] and c.2546>A [p.L849X]) in <jats:italic>AP3B1</jats:italic>. When examining patients with OCA, blood tests should be performed to confirm neutrophil count, bleeding time and platelet agglutination. When HPS2 is suspected, detailed immunological tests should be considered, and attention should be paid to HLH and pulmonary lesions immediately and over the long term.</jats:p>

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