Two breakthroughs in CGD studies

Nunoi, Hiroyuki

doi:10.2177/jsci.30.1

Cited by 4 publications

(3 citation statements)

References 33 publications

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“…A national survey of HSCT for CGD in Japan has shown fairly high survival rate (22 of 28), in which the survival rate of HSCT from HLA-matched siblings were comparable to that of HSCT from HLA-matched unrelated donors, whereas that of cord blood transplantation were improperly poor (2 of 4) [10]. Recently, nonmyeloablative conditioning regimens, mostly consisting cyclophosphamide and fludarabine, have been preferred, while the myeloablative conditioning, consisted of busulfan and cyclophosphamide, have been initially performed.…”

Section: Discussionmentioning

confidence: 99%

Successful treatment of chronic granulomatous disease with fludarabine-based reduced-intensity conditioning and unrelated bone marrow transplantation

et al. 2007

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Allogeneic hematopoietic stem-cell transplantation (HSCT) for chronic granulomatous disease (CGD) with a reduced-intensity conditioning regimen can be expected to lead to less therapy-related mortality and late-onset impairment, whereas it has also been reported to increase the risk of unsustained mixed donor chimerism and late rejection after transplantation. Herein, we report a 4-year-old boy with CGD who was successfully treated with unrelated bone marrow transplantation with a reduced-intensity conditioning regimen (RIC). Fludarabine-based RIC, 4 Gy of total body irradiation, 120 mg/kg of cyclophosphamide, and 125 mg/m(2) of fludarabine, was adopted for transplantation, followed with 8.9 x 10(8)/kg mononucleated donor cells infused without T-cell depletion. Although hematopoietic engraftment was rapidly obtained by day +17, he developed unstable donor chimerism. After tacrolimus withdrawal, the patient showed grade III acute graft-versus-host disease (GVHD), and subsequently reached full donor chimerism by day +61. Twelve months post-transplant, the patient has remained well with stable and durable engraftment, 100% donor chimerism, and normal superoxide production, without the requirement of donor lymphocyte infusions (DLI).

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Section: Discussionmentioning

confidence: 99%

Successful treatment of chronic granulomatous disease with fludarabine-based reduced-intensity conditioning and unrelated bone marrow transplantation

et al. 2007

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“…Unlike the situation in North America and Western Europe, p22 phox -deficient CGD is the predominant autosomal recessive form in Japan; p22 phox -deficient, p67 phox -deficient, and p47 phoxdeficient CGD account for 8.7%, 6.6%, and 6% of the total, respectively. 27) We presume that the distribution of CGD forms in Korea may be similar to that of Japan.…”

Section: Necessity For a National Registry System For Primary Immuno mentioning

confidence: 93%

Chronic Granulomatous Disease on Jeju Island, Korea

Cho

Shin

2013

J Genet Med

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Genetic Medicine chia coli, non-typhoid Salmonella species, Klebsiella pneumoniae, Serratia marcescens, and Burkholderia cepacia, as well as the fungal genus Aspergillus. 1, 3-6) Isolation of the causative pathogens is essential for appropriate antimicrobial therapy, but it is difficult to identify the causative pathogen in most clinical CGD cases. 5, 6) NADPH oxidase is a multi-component complex composed of a plasma membrane-bound flavocytochrome b 558 subunit and cytosolic proteins p47 phox (phox for phagocytic oxidase), p67 phox , p40 phox , and two small GTPase, Rac2 and Rap1A. 6) The flavocytochrome b 558 subunit is a heterodimer comprised of gp91 phox (also called NOX2, NOX for NADPH oxidase) and p22 phox encoded by CYBB and CYBA respectively, whereas the three components p47 phox , p67 phox , and p40 phox of the cytosolic subunit are encoded

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“…Its mutations have been reported to include non-sense mutations, missense mutations, splice site mutations, duplications, deletions, and insertions [2] . In Japan, more than 260 patients with CGD have been reported [3] . Genetic analysis of the 92 patients with CYBB gene mutations was performed.…”

Section: Introductionmentioning

confidence: 99%

Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease

et al. 2012

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Mutations in genes for any of the six subunits of NADPH oxidase cause chronic granulomatous disease (CGD), but almost 2/3 of CGD cases are caused by mutations in the X-linked CYBB gene, also known as NAD (P) H oxidase 2. Approximately 260 patients with CGD have been reported in Japan, of whom 92 were shown to have mutations of the CYBB gene and 16 to have chromosomal deletions. However, there has been very little detailed analysis of the range of the deletion or close understanding of the disease based on this. We therefore analyzed genomic rearrangements in X-linked CGD using array comparative genomic hybridization analysis, revealing the extent and the types of the deletion genes. The subjects were five Japanese X-linked CGD patients estimated to have large base deletions of 1 kb or more in the CYBB gene (four male patients, one female patient) and the mothers of four of those patients. The five Japanese patients were found to range from a patient exhibiting deletions only of the CYBB gene to a female patient exhibiting an extensive DNA deletion and the DMD and CGD phenotype manifested. Of the other three patients, two exhibited CYBB, XK, and DYNLT3 gene deletions. The remaining patient exhibited both a deletion encompassing DNA subsequent to the CYBB region following intron 2 and the DYNLT3 gene and a complex copy number variation involving the insertion of an inverted duplication of a region from the centromere side of DYNLT3 into the deleted region.

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Two breakthroughs in CGD studies

Cited by 4 publications

References 33 publications

Successful treatment of chronic granulomatous disease with fludarabine-based reduced-intensity conditioning and unrelated bone marrow transplantation

Successful treatment of chronic granulomatous disease with fludarabine-based reduced-intensity conditioning and unrelated bone marrow transplantation

Chronic Granulomatous Disease on Jeju Island, Korea

Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease

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