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Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

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Title: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
Authors: Utsumi T; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Tsumura M; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Yashiro M; Department of Pediatrics, Okayama University Hospital, Okayama, Japan., Kato Z; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.; Structural Medicine, United Graduate School of Drug Discovery and Medical Information Science, Gifu University, Gifu, Japan., Noma K; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Sakura F; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.; Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan., Kagawa R; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Mizoguchi Y; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Karakawa S; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan., Ohnishi H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan., Cunningham-Rundles C; Division of Allergy and Clinical Immunology, Departments of Medicine and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Arkwright PD; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, UK., Kobayashi M; Japanese Red Cross Chugoku-Shikoku Block Blood Center, Hiroshima, Japan., Kanegane H; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan., Bogunovic D; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute (HHMI), New York, NY, USA., Asano T; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan. tasano02@hiroshima-u.ac.jp.; Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan. tasano02@hiroshima-u.ac.jp., Okada S; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan. sokada@hiroshima-u.ac.jp.
Source: Journal of clinical immunology [J Clin Immunol] 2024 Jul 29; Vol. 44 (7), pp. 167. Date of Electronic Publication: 2024 Jul 29.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
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  Data: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Utsumi+T%22">Utsumi T</searchLink>; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Tsumura+M%22">Tsumura M</searchLink>; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Yashiro+M%22">Yashiro M</searchLink>; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.<br /><searchLink fieldCode="AU" term="%22Kato+Z%22">Kato Z</searchLink>; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.; Structural Medicine, United Graduate School of Drug Discovery and Medical Information Science, Gifu University, Gifu, Japan.<br /><searchLink fieldCode="AU" term="%22Noma+K%22">Noma K</searchLink>; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Sakura+F%22">Sakura F</searchLink>; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.; Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan.<br /><searchLink fieldCode="AU" term="%22Kagawa+R%22">Kagawa R</searchLink>; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Mizoguchi+Y%22">Mizoguchi Y</searchLink>; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Karakawa+S%22">Karakawa S</searchLink>; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Ohnishi+H%22">Ohnishi H</searchLink>; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.<br /><searchLink fieldCode="AU" term="%22Cunningham-Rundles+C%22">Cunningham-Rundles C</searchLink>; Division of Allergy and Clinical Immunology, Departments of Medicine and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Arkwright+PD%22">Arkwright PD</searchLink>; Lydia Becker Institute of Immunology and Inflammation, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Kobayashi+M%22">Kobayashi M</searchLink>; Japanese Red Cross Chugoku-Shikoku Block Blood Center, Hiroshima, Japan.<br /><searchLink fieldCode="AU" term="%22Kanegane+H%22">Kanegane H</searchLink>; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Bogunovic+D%22">Bogunovic D</searchLink>; Center for Inborn Errors of Immunity, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Precision Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Microbiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Boisson+B%22">Boisson B</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Casanova+JL%22">Casanova JL</searchLink>; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute (HHMI), New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Asano+T%22">Asano T</searchLink>; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan. tasano02@hiroshima-u.ac.jp.; Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan. tasano02@hiroshima-u.ac.jp.<br /><searchLink fieldCode="AU" term="%22Okada+S%22">Okada S</searchLink>; Department of Pediatrics, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan. sokada@hiroshima-u.ac.jp.
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