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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1573-2592 |
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| DOI: | 10.1007/s10875-024-01758-x |
