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Faculty of Medicine School of Medicine Department of Developmental and Urological-Reproductive Medicine, Pediatrics |
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Assistant Professor |
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Related SDGs |
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NISHIMURA Toyoki
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Papers 【 display / non-display 】
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CFAP43 variant in persistent respiratory symptoms after hematopoietic cell transplantation Reviewed
Nagasawa S., Nishimura T., Yamada A., Kamimura S., Ishimura M., Moritake H.
Human Genome Variation 11 ( 1 ) 41 2024.12
Language：English Publishing type：Research paper (scientific journal) Publisher：Human Genome Variation
We describe a case of RAS-associated autoimmune leukoproliferative disease with primary ciliary dyskinesia (PCD)-like symptoms, such as recurrent pneumonia, sinusitis, and otitis media, that occurred 7 years after hematopoietic cell transplantation. Whole-exome sequencing revealed a heterozygous CFAP43 nonsense variant. Environmental factors related to hematopoietic cell transplantation may have led to PCD symptoms in this patient with this variant. Genetic screening can help avoid subsequent complications during patient management.
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An autopsy case of an adult woman with Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHAD(NET)) syndrome developing nonalcoholic steatohepatitis and hepatocellular carcinoma: A case report. Reviewed
Hasuike S, Ozono Y, Uchida K, Ogawa S, Tamura H, Uchiyama N, Hatada H, Komaki Y, Nakamura K, Iwakiri H, Sueta M, Nagata K, Nishimura T, Matsuyama M, Sawada H, Oguri T, Sato Y, Kawakami H
Medicine 103 ( 22 ) e38383 2024.5
Language：English Publishing type：Research paper (scientific journal)
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Local Administration of H2O2 Reduced Aspergilloma in a Patient with Chronic Granulomatous Disease: A Case Report Reviewed
Toyoki Nishimura
journal of biotechnology and biomedicine 7 186 - 191 2024.4
Authorship：Lead author Language：English Publishing type：Case report
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B-cell deficiency identified by newborn screening Reviewed
Matsumoto Takayuki, Nishimura Toyoki, Yamamoto Ayako, Sawada Hirotake, Moritake Hiroshi
JSIAD Journal 3 ( 1 ) 16 - 20 2024.2
Language：Japanese Publishing type：Research paper (scientific journal) Publisher：Japanese Society for Immunodeficiency and Autoinflammatory Diseases
Newborn screening（NBS）is carried out at public expense for approximately 20 diseases in Japan; however, each prefecture independently conducts additional NBS including several more diseases. Miyazaki Prefecture has optionally included inborn errors of immunity（IEIs）and lysosomal storage diseases since April 2020. We herein report a baby who suffered from B-cell deficiency（BCD）that was identified by NBS conducted in Miyazaki Prefecture. The baby had low levels of kappa-deleting recombination excision circles（KRECs）and was referred to our hospital. Several measurements of CD19-positive B cells in the peripheral blood consistently showed values <2%, leading to the diagnosis of BCD. Periodic immunoglobulin replacement successfully led to a healthy outcome without serious infection developing over a period of more than 17 months. This is the first case of BCD identified by NBS and that underwent prophylactic gamma globulin replacement in Japan. Severe combined immunodeficiency disease and BCD are IEIs known to cause severe sequelae, and patients sometimes die without a correct diagnosis being made; therefore, their early diagnosis and early treatment are extremely important. The inclusion of IEIs in NBS has proven to be cost-effective all over the world. In the future, it is expected that IEIs will be covered by NBS public funds in Japan as well.
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Uchiyama T., Kawai T., Nakabayashi K., Nakazawa Y., Goto F., Okamura K., Nishimura T., Kato K., Watanabe N., Miura A., Yasuda T., Ando Y., Minegishi T., Edasawa K., Shimura M., Akiba Y., Sato-Otsubo A., Mizukami T., Kato M., Akashi K., Nunoi H., Onodera M.
Molecular Therapy 31 ( 12 ) 3424 - 3440 2023
Language：English Publishing type：Research paper (scientific journal) Publisher：Molecular Therapy
Stem cell gene therapy using the MFGS-gp91phox retroviral vector was performed on a 27-year-old patient with X-linked chronic granulomatous disease (X-CGD) in 2014. The patient's refractory infections were resolved, whereas the oxidase-positive neutrophils disappeared within 6 months. Thirty-two months after gene therapy, the patient developed myelodysplastic syndrome (MDS), and vector integration into the MECOM locus was identified in blast cells. The vector integration into MECOM was detectable in most myeloid cells at 12 months after gene therapy. However, the patient exhibited normal hematopoiesis until the onset of MDS, suggesting that MECOM transactivation contributed to clonal hematopoiesis, and the blast transformation likely arose after the acquisition of additional genetic lesions. In whole-genome sequencing, the biallelic loss of the WT1 tumor suppressor gene, which occurred immediately before tumorigenesis, was identified as a potential candidate genetic alteration. The provirus CYBB cDNA in the blasts contained 108 G-to-A mutations exclusively in the coding strand, suggesting the occurrence of APOBEC3-mediated hypermutations during the transduction of CD34-positive cells. A hypermutation-mediated loss of oxidase activity may have facilitated the survival and proliferation of the clone with MECOM transactivation. Our data provide valuable insights into the complex mechanisms underlying the development of leukemia in X-CGD gene therapy.