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Article
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
The MRE11-RAD50-NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks. Pathogenic variants in NBN and MRE11 give rise to the autosomal-recessive diseases, Nijmegen breakage synd...
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Article
Donor-derived myelodysplastic syndrome after allogeneic stem cell transplantation in a family with germline GATA2 mutation
Germline GATA2 heterozygous mutations were identified as complex immunodeficiency and hematological syndromes characterized by cytopenia (monocytes, B-cells, NK-cells), susceptibility to mycobacterium, fungus, or...
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Article
Clinical course of juvenile myelomonocytic leukemia in the blast crisis phase treated by acute myeloid leukemia-oriented chemotherapy and allogeneic hematopoietic stem cell transplantation
Juvenile myelomonocytic leukemia (JMML) is a mixed myeloproliferative and myelodysplastic disorder that occurs in early childhood. The clinical course of JMML is highly variable. A third of patients follow a r...
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Article
Cyclosporin A may cause injury to undifferentiated glomeruli persisting in patients with Alport syndrome
Alport syndrome (AS) is a renal disorder caused by a genetic abnormality of type IV collagen α3 and α4, or α5 genes and shows a poor prognosis. Since the defect of type IV collagen synthesis disturbs the matur...
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Article
Cure of relapsing nephrosis by an allogeneic marrow graft for chronic myelogenous leukemia
Minimal-change nephrotic syndrome has recently been attributed to an immature, dysfunctional T-cell population.
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Article
Newly-identified symptoms of left renal vein entrapment syndrome mimicking orthostatic disturbance
In addition to the urinary abnormalities, symptoms of left renal vein entrapment between the aorta and superior mesenteric artery (left renal vein entrapment syndrome, LRVES) may include abdominal and flank pa...
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Article
Unrelated Donor Marrow Transplantation for Congenital Immunodeficiency and Metabolic Disease: An Update of the Experience of the Japan Marrow Donor Program
We retrospectively analyzed the clinical results of 81 patients with congenital genetic diseases who were treated with bone marrow transplantation (BMT) from unrelated donors identified through the Japan Marro...
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Article
Clinical significance of minimal residual disease in childhood acute myeloid leukemia
Many studies have assessed the clinical significance of the detection of minimal residual disease (MRD) in acute leukemia.Thus far, many studies have suggested that MRD detection to evaluate the response to ch...
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Article
Autologous Hematopoietic Stem Cell Transplantation for 3 Patients with Severe Juvenile Rheumatoid Arthritis
We performed autologous CD34+ stem cell transplantation in 3 patients with juvenile rheumatoid arthritis (JRA) refractory to conventional treatment. All patients had systemic type JRA. In case 1 (a 3-year-old ...
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Article
Pneumococcal Arthritis Affects Performance Status in Patients With Chronic GVHD of the Skin Following Allogeneic Bone Marrow Transplantation
We encountered 2 patients with pneumococcal arthritis following bone marrow transplantation (BMT). Both patients received grafts from unrelated human lymphocyte antigen(HLA)-matched donors and had suffered fro...
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Article
Characteristics of titanium oxide films deposited by an activated reactive evaporation method
Titanium di- and sesquioxide films were epitaxially grown on the (001) surface of sapphire single-crystalline substrates by an activated reactive evaporation method. Formation range for each titanium oxide was...