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Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
Ohnishi, Hidenori; Kishimoto, Yuka; Taguchi, Tomohide; Kawamoto, Norio; Nakama, Mina; Kawai, Tomoki; Nakayama, Manabu; Ohara, Osamu; Orii, Kenji; Fukao, Toshiyuki.
Afiliación
  • Ohnishi H; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan. ohnishih@gifu-u.ac.jp.
  • Kishimoto Y; Department of Pediatrics, Kagawaken Saiseikai Hospital, Kagawa, Japan.
  • Taguchi T; Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Kawamoto N; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.
  • Nakama M; Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan.
  • Kawai T; Department of Pediatrics, Kyoto University Hospital, Kyoto, Japan.
  • Nakayama M; Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan.
  • Ohara O; Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan.
  • Orii K; Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu, 501-1194, Japan.
  • Fukao T; Division of Neonatal Intensive Care Unit, Gifu University Hospital, Gifu, Japan.
J Clin Immunol ; 37(6): 529-538, 2017 Aug.
Article en En | MEDLINE | ID: mdl-28702714

Texto completo: 1 Colección: 01-internacional Asunto principal: Piel / Incontinencia Pigmentaria / Displasia Ectodérmica / Quinasa I-kappa B / Síndromes de Inmunodeficiencia / Macrófagos / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant Idioma: En Revista: J Clin Immunol Año: 2017 Tipo del documento: Article País de afiliación: Japón

Texto completo: 1 Colección: 01-internacional Asunto principal: Piel / Incontinencia Pigmentaria / Displasia Ectodérmica / Quinasa I-kappa B / Síndromes de Inmunodeficiencia / Macrófagos / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant Idioma: En Revista: J Clin Immunol Año: 2017 Tipo del documento: Article País de afiliación: Japón