Publications by authors named "Shiho Nishimura"

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  • Early prophylaxis alone is not sufficient to prevent joint disease in most pediatric patients with hemophilia, as indicated by recent studies.
  • A study evaluated the incidence of acute joint disease in 48 children with hemophilia over five years, finding that joint disease increased with age, particularly affecting those beyond high school age.
  • Patients regularly followed by specialized hemophilia treatment centers had a significantly lower incidence of joint disease, highlighting the importance of routine check-ups and comprehensive care in managing joint health.
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  • Autosomal recessive (AR) STAT1 deficiency significantly impairs the immune response to various infections, making patients highly susceptible to viral and mycobacterial diseases.
  • An international study of 32 patients revealed that complete deficiency leads to more severe outcomes, including a higher mortality rate and serious reactions to vaccines.
  • Hematopoietic stem cell transplantation shows promise as a treatment, with a 64% survival rate for those who undergo the procedure, underscoring the importance of early diagnosis and differentiation between complete and partial deficiency forms.
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  • * The study investigated how impaired IFN-γ responses in specific deficiencies (AD IFN-γR1 and AD STAT1) lead to increased osteoclast differentiation and activity, using various laboratory techniques.
  • * Results indicated that individuals with AD IFN-γR1 and AD STAT1 deficiencies have heightened osteoclast numbers due to reduced inhibition from IFN-γ, which may contribute to excessive bone resorption in areas of infection.
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Background: The antibody response after pneumococcal vaccines and their effectiveness against invasive pneumococcal disease (IPD) in patients with interleukin-1 receptor-associated kinase 4 (IRAK4) deficiency have not been fully evaluated. Here, we evaluated pneumococcal serotype-specific opsonophagocytic activity (OPA) in IRAK4-deficient patients along with their clinical course.

Methods: We investigated 6 IRAK4-deficient patients in Japan, whose attending physicians could be contacted.

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IRAK4 deficiency is an inborn error of immunity predisposing patients to invasive pyogenic infections. Currently, there is no established simple assay that enables precise characterization of IRAK4 mutant alleles in isolation. Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune condition that is characterized by psychiatric symptoms, involuntary movement, seizures, autonomic dysfunction, and central hypoventilation.

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Autosomal recessive (AR) complete signal transducer and activator of transcription 1 (STAT1) deficiency is an extremely rare primary immunodeficiency that causes life-threatening mycobacterial and viral infections. Only seven patients from five unrelated families with this disorder have been so far reported. All causal STAT1 mutations reported are exonic and homozygous.

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Pyruvate kinase deficiency (PKD) is the rare glycolytic enzyme defect causing hemolytic anemia. Treatments are mainly red cell transfusion and/or splenectomy, leading to iron overload. Allogeneic bone marrow transplantation (BMT) is alternatively curative treatment for severe PKD.

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In this report, we describe a novel T437N STAT1 mutation found in a mother and 3 of her 4 children which we demonstrate yields gain-of-function. All of the four patients with the T437N STAT1 mutation experienced lymphadenopathy. However, two of the children developed Nodular Lymphocyte Predominant Hodgkin Lymphoma (NHLPL) and have responded to chemotherapeutic regimens.

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  • Non-surgical treatment can effectively manage appendiceal abscess in selected adults, but conversion to surgery is necessary if the initial treatment fails.
  • The study analyzed 594 patients, finding that 34 had appendiceal abscess, with 8 of those (23.4%) needing surgery after conservative treatment due to factors like large abscess size and low improvement in white blood cell counts.
  • Predictors of unsuccessful non-surgical treatment include an abscess larger than 40 mm and insufficient improvement in WBC count, with early surgical conversion leading to shorter hospital stays and lower costs.
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  • Infants with KMT2A (MLL)-rearranged acute lymphoblastic leukemia (MLL-r ALL) have poor outcomes even with aggressive treatments, like stem cell transplants.
  • Epigenetic changes are believed to play a major role in the development of this type of leukemia, leading researchers to explore epigenetic drugs as potential therapies.
  • A specific case showed that after a relapse post-transplant, the infant achieved and maintained remission for 10 months with azacitidine, before successfully undergoing a second stem cell transplant.
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Background: Germline heterozygous mutations in human signal transducer and activator of transcription 1 (STAT1) can cause loss of function (LOF), as in patients with Mendelian susceptibility to mycobacterial diseases, or gain of function (GOF), as in patients with chronic mucocutaneous candidiasis. LOF and GOF mutations are equally rare and can affect the same domains of STAT1, especially the coiled-coil domain (CCD) and DNA-binding domain (DBD). Moreover, 6% of patients with chronic mucocutaneous candidiasis with a GOF STAT1 mutation have mycobacterial disease, obscuring the functional significance of the identified STAT1 mutations.

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Background: Ikaros, which is encoded by IKZF1, is a transcriptional factor that play a critical role in hematopoiesis. Somatic IKZF1 alterations are known to be involved in the pathogenesis of leukemia in human subjects. Recently, immunodeficiency caused by germline IKZF1 mutation has been described.

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The production of factor VIII (FVIII) inhibitory antibodies is a serious problem in patients with hemophilia A. Immune tolerance induction (ITI) is the only strategy proven to eradicate persistent inhibitors and has been shown to be successful in 70 % of patients with hemophilia A. However, a minority of hemophilia patients present life-long inhibitors.

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