Tokyo Medical and Dental University Hospital Department of Pediatrics and Developmental Biology

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Hematology/Oncology/Immunology Group


We are conducting the diagnosis and optimal treatment for pediatric hematologic tumor, solid tumor, hematologic diseases, and inborn errors of immunity (IEI). Main newly admitted patients in 2021 are followings: acute lymphoblastic leukemia: 4, relapsed acute lymphoblastic leukemia 1 (CAR-T: 1), relapsed acute myelogenous leukemia: 2, myelodysplastic syndrome: 2, transient abnormal myeloproliferative disorder: 1, diffuse large cell lymphoma(Bloom syndrome): 1, Denys-Drash syndrome/Wilms tumor:1, X-linked lymphoproliferative syndrome type 2 (XIAP deficiency):3, common variable immunodeficiency syndrome:3, Wiskott-Aldrich syndrome:1, X-linked agamma globulinemia:1, NFKB1 deficiency:1, NFKB2 deficiency:1, hemophilia A:2, immune thrombocytopenic purpura 2, Kikuchi's disease:1, autoimmune neutropenia:3.


Identifying the pathophysiology for rare IEIs

We established Primary Immunodeficiency Database in Japan (PIDJ) ver.2. Now, there are more than 400 distinct IEIs. As central institute of PIDJ ver.2, we are performing candidate gene hunting of IEI using whole exon sequencing analysis by a next-generation sequencer and identified several responsive or candidate genes under the close collaboration with Kazusa DNA Research Institute, and we will also investigate further pathogenesis.

Ataxia Telangiectasia (A-T)

As a center institute for diagnosing A-T, we send the information for the patient with A-T through the following URL: ( We are pursuing to establish optimal diagnosis and treatment for the patient with A-T.

Hematopoietic Cell Transplantation

We have been conducting the hematopoietic cell transplantation for more than 200 patients with refractory/relapsed hematologic, solid tumors, and IEIs. We are optimizing the conditioning regimen and selecting optimal donor for a different type of IEIs.

Multi-institutional joint research

To establish standard treatment for the patients with hematologic and solid tumors, we are participating the multi-institutional joint research under the Japan Children’s Cancer Group (JCCG).
Cardiology Group
Our group is providing medical service for cardiovascular diseases in children, especially focusing on congenital heart disease and idiopathic/heritable PAH. In 2019, 54 cardiac catheterizations and 24 cardiac surgery were carried out. We are treating severe PAH patients with advanced combination therapy.In collaboration with the department of cardiology in TMDU, we are providing transfer and transition program in congenital heart disease and other pediatric cardiac diseases.
Neonatology Group
Our NICU harbors 6 beds for intensive neonatal care, and we treat preterm infants with 27 or more weeks of gestation or 800 grams or more birth weights. We also provide medical care for newborns with various comorbidities, such as congenital anomalies, congenital heart diseases, neurodevelopmental disorders and endocrine disorders. From whole area of Tokyo, we accept neonatal or maternal transport.Our group also provide long term follow-up for infants and children who need special care. Counseling service for well being of children and their family is also provided.
Neurology Group
Our group is providing medical care in a wide range of pediatric neurologic diseases including epilepsy, cerebellar ataxia, neuroimmunological disease, spinal muscular atrophy and neurodevelopmental disorders. Especially, collaborating with the department of neurosurgery, we launched an epilepsy center that offers advanced therapy and specialized care for pediatric intractable epilepsy. In addition to surgical operation, we provide other advanced therapeutic approach, such as ACTH therapy, ketogenic diet and vagus nerve stimulation for intractable epilepsy in children. We also provide gene therapy for spinal muscular atrophy.
Nephrology Group
We, nephrology group, have special expertise in diagnosis and treatment of various pediatric kidney diseases, such as nephrotic syndrome, acute or chronic nephritis and lupus nephritis. Over 600 ~ 700 outpatients were treated during every year in our medical service. In the last year, we perform 20 renal biopsies and 10 rituximab administration for nephrotic syndrome. For the diagnosis of rare and intractable renal diseases in children, we employ genetic diagnostic approaches in collaborating with the Division of Nephrology in our university. 
Endocrinology Group
We provide comprehensive diagnostic and treatment services for children with endocrinological abnormality and diabetes, such as disorders of growth, pubertal development, Ca/P metabolism (including skeletal dysplasia), gonadal development and adrenal cortex function. Especially, we are focusing on providing advanced medical service for congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD). Our institute is one of the DSD central facilities approved by the Japanese Society for Pediatric Endocrinology (JSPE).For social contribution, we supervise the neonatal screening system for CAH in Tokyo metropolitan city and peer support group of type 1 diabetes, “Tokyo Wakamatsu-kai”.
Rheumatology Group
Our group is providing medical care in a wide range of pediatric rheumatic diseases (juvenile idiopathic arthritis, systemic lupus erythematosus, juvenile dermatomyositis, mixed connective tissue disease, Behcet's disease) and auto-inflammatory diseases (familial Mediterranean fever, TNF receptor related periodic syndrome, periodic fever, aphthous stomatitis). In collaborating with immunology group, we perform combined multiple diagnostic tests, such as FACS, cytokine profiles and next generation sequencing-based gene panel tests. We also employ advanced therapeutic approach including combination therapy of steroids., immunosuppressants, plasma exchange and biopharmaceutical drugs. Our group is composed with rheumatologist for children and adults, and we are planning to establish a clinical service program that enable to care the rheumatologic patients from childhood to adulthood continuously and seamlessly.