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Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report.
Kyodo, Reiko; Takeuchi, Ichiro; Narumi, Satoshi; Shimizu, Hirotaka; Hata, Kenichiro; Yoshioka, Takako; Tanase-Nakao, Kanako; Shimizu, Toshiaki; Arai, Katsuhiro.
Afiliación
  • Kyodo R; Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, Juntendo Universi
  • Takeuchi I; Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan. Electronic address: takeuchi-i@ncchd.go.jp.
  • Narumi S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Shimizu H; Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan.
  • Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Yoshioka T; Department of Pathology, Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
  • Tanase-Nakao K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Shimizu T; Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Arai K; Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan.
Clin Immunol ; 238: 109015, 2022 05.
Article en En | MEDLINE | ID: mdl-35429653
Genetic variants affecting the function of dual oxidase 2 (DUOX2), the catalytic subunit of membrane-bound enzymes that produce hydrogen peroxide, are associated with very early-onset inflammatory bowel disease (VEO-IBD). We report the case of a 1-year-old boy diagnosed with VEO-IBD after presenting with bloody diarrhea. He had pancolitis and an extensive small intestinal ulcerative lesion at age 4 years. Infliximab treatment was successful but was discontinued due to delayed reaction. At age 7 years, treatment with ustekinumab was started, and remission has been maintained for more than 2 years. Whole-exome sequencing identified compound heterozygous missense DUOX2 variants of unknown significance (p.[R1212H];[F1490Y]). Protein expression in the whole-cell lysate and plasma membrane was lower in F1490Y-DUOX2 than in wild-type (WT)-DUOX2. Hydrogen peroxide generation upon ionomycin stimulation was lower in cells expressing R1212H-DUOX2 and F1490Y-DUOX2 than in those expressing WT-DUOX2. The novel, inherited, biallelic DUOX2 mutations may be molecular risk factors of VEO-IBD.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Inflamatorias del Intestino / Peróxido de Hidrógeno Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Inflamatorias del Intestino / Peróxido de Hidrógeno Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: Clin Immunol Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos