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Takahiro Yasumi

Kyoto University

108

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1733

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Hereditary angioedema with a novel mutation, c.1481G>C, in the SERPING1 gene

2021
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A case of fetal-onset type 3 familial hemophagocytic lymphohistiocytosis surviving without severe complications after early diagnosis and treatment.

2021 Pediatric Blood & Cancer
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A sporadic case of CTLA4 haploinsufficiency manifesting as Epstein-Barr virus-positive diffuse large B-cell lymphoma.

2021 Journal of Clinical and Experimental Hematopathology
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Augmentation of STING-induced type I interferon production in COPA syndrome.

2021 Arthritis & Rheumatism
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A Randomized, Double-Blind, Placebo-Controlled Phase III Trial On The Efficacy and Safety of Tocilizumab in Patients With Colchicine-Resistant or -Intolerant Familial Mediterranean Fever

2021
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Enzyme activity in dried blood spot as a diagnostic tool for adenosine deaminase 2 deficiency.

2021 Analytical Biochemistry
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Partial Trisomy 9p with Clinical Symptoms Resembling Interferonopathies.

2021 Journal of Clinical Immunology
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Aberrant localization of CDC42 C-terminal variants to the Golgi apparatus drives pyrin inflammasome-dependent autoinflammation

2021 bioRxiv
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Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

2021 Journal of Clinical Immunology
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Incomplete Presentation of WHIM Syndrome: The Diagnostic Role of Dysmorphic Neutrophils in Bone Marrow.

2020 Journal of Pediatric Hematology Oncology
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