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Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.

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Title: Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.
Authors: Sagawa H; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan., Hirata K; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. k-hirata.nuro@tmd.ac.jp., Katayama S; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan., Shibata H; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Toyofuku E; Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.; Graduate School of Medicine, Faculty of Medicine, The University of Tokyo, Tokyo, Japan., Kaneko S; Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan., Katata Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan., Takezawa Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan., Uematsu M; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan., Onishi I; Division of Diagnostic Pathology, Institute of Science Tokyo Hospital, Tokyo, Japan., Yamazaki Y; Department of Pathology, Tohoku University Hospital, Sendai, Japan., Hattori T; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan., Yamamoto M; Department of Hematology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan., Shimizu M; Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan., Imai K; Department of Pediatrics, National Defense Medical College (NDMC), Saitama, Japan., Yasumi T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Morio T; Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.; Laboratory of Immunology and Molecular Medicine, Advanced Research Institute, Institute of Science Tokyo, Tokyo, Japan., Yokota T; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan., Sasahara Y; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan., Kanegane H; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
Source: Journal of clinical immunology [J Clin Immunol] 2026 Mar 04; Vol. 46 (1). Date of Electronic Publication: 2026 Mar 04.
Publication Type: Journal Article
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; In Process
Database: MEDLINE Ultimate
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  Data: Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.
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  Data: <searchLink fieldCode="AU" term="%22Sagawa+H%22">Sagawa H</searchLink>; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.<br /><searchLink fieldCode="AU" term="%22Hirata+K%22">Hirata K</searchLink>; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. k-hirata.nuro@tmd.ac.jp.<br /><searchLink fieldCode="AU" term="%22Katayama+S%22">Katayama S</searchLink>; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Shibata+H%22">Shibata H</searchLink>; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.<br /><searchLink fieldCode="AU" term="%22Toyofuku+E%22">Toyofuku E</searchLink>; Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.; Graduate School of Medicine, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kaneko+S%22">Kaneko S</searchLink>; Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Katata+Y%22">Katata Y</searchLink>; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Takezawa+Y%22">Takezawa Y</searchLink>; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Uematsu+M%22">Uematsu M</searchLink>; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Onishi+I%22">Onishi I</searchLink>; Division of Diagnostic Pathology, Institute of Science Tokyo Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Yamazaki+Y%22">Yamazaki Y</searchLink>; Department of Pathology, Tohoku University Hospital, Sendai, Japan.<br /><searchLink fieldCode="AU" term="%22Hattori+T%22">Hattori T</searchLink>; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.<br /><searchLink fieldCode="AU" term="%22Yamamoto+M%22">Yamamoto M</searchLink>; Department of Hematology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Shimizu+M%22">Shimizu M</searchLink>; Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Imai+K%22">Imai K</searchLink>; Department of Pediatrics, National Defense Medical College (NDMC), Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Yasumi+T%22">Yasumi T</searchLink>; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.<br /><searchLink fieldCode="AU" term="%22Morio+T%22">Morio T</searchLink>; Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.; Laboratory of Immunology and Molecular Medicine, Advanced Research Institute, Institute of Science Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Yokota+T%22">Yokota T</searchLink>; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.<br /><searchLink fieldCode="AU" term="%22Sasahara+Y%22">Sasahara Y</searchLink>; Department of Pediatrics, Tohoku University School of Medicine, Sendai, 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, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.
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  Data: <searchLink fieldCode="JN" term="%228102137%22">Journal of clinical immunology</searchLink> [J Clin Immunol] 2026 Mar 04; Vol. 46 (1). <i>Date of Electronic Publication: </i>2026 Mar 04.
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