¡¾Research Keyword¡¿
COVID-19, Primary immunodeficiency, Severe congenital neutropenia(SCN), Chronic mucocutaneous candidiasis (CMC), Mendelian susceptibility to mycobacterial diseases (MSMD), STAT1¡¢ROR¦ÃT¡¢Pediatric oncology, Naonatal hematology, Exome sequencing, Pediatric nervous system disorders, Developmental disorders
¡¾Recent highlights¡¿
¡°Smart¡± genetic library -- making disease diagnosis much easier
Outcomes of stem cell transplants in gene mutation patients
Rapid test pinpoints enzyme-related immune deficiency
Identifying mutants one amino acid at a time
Medical oddity ushers in discovery of unheard-of 'immunity gene' mutations ¡ª and a better way to screen them

¡¾Major Papers of the Laboratory¡¿
?Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency, JOURNAL OF CLINICAL IMMUNOLOGY, 44(7), 202410
?Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research, IMMUNOLOGICAL REVIEWS, 322(1), 81-97, 202403
?A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1 a in mice with G6PCc.648G>T, JOURNAL OF CLINICAL INVESTIGATION, 133(23), e163464, 20231003
¡¾·¡»å³Ü³¦²¹³Ù¾±´Ç²Ô¡¿
The department of Pediatrics provides health care services for physical and mental conditions in children from infancy through adolescence. In our department, 31 pediatricians have each special field, such as hematology, oncology, immunology, neonatology, metabolic disease, neurology, endocrinology, genomics, allergy, rheumatology, cardiology, nephrology, and psychology. We present major point of child health and general pediatric diseases in lecture. Clinical training provide basic attitude for pediatric treatment, interview technique, and physical examination. In graduate course, students can choose several study subjects from the following research contents, and get medical research specialists or advising doctors. In future, we expect our students become leaders of pediatric field.
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- Pathological study for congenital neutropenia and cyclic neutropenia using iPS cells
- Pathological analysis for inborn errors of immunity of innate immunity disorders
i) Identification of responsible genes for inborn errors of immunity by introducing genome-wide multi-omics analysis.
ii) Investigation of molecular pathogenesis of patient with CMC and/or MSMD.
iii) Analysis of molecular basis for transcription factor in developmental of inborn errors of immunity - Development of high sensitive anti-neutrophil antibody
- Clinical study for pediatric oncology (hematological malignancy and solid tumor)
- Analysis of regulatory T-cells in neonatal immune system
- Pathological analysis for pediatric nervous disorders using imaging study and physiological function test
- Functional neuroimaging for developmental disorders
- Study of the molecular mechanism underlie severe Coronavirus Disease 2019
- Construction research of genetic diagnostic system for improving diagnosis rates of inborn errors of immunity.

¡¾Photo explanation¡¿ Outpatient clinic of pediatrics

¡¾Photo explanation¡¿ Laboratory department of pediatrics