A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease

Kabuki, Tomoyuki; Kawai, Toshinao; Kin, Yoshiaki; Joh, Kohsuke; Ohashi, Hirofumi; Kosho, Tomoki; Yachie, Akihiro; Kanegane, Hirokazu; Miyawaki, Toshio; Oh‐ishi, Tsutomu

doi:10.2177/jsci.26.299

Cited by 16 publications

(10 citation statements)

References 13 publications

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“…We also evaluated 3 patients with X-linked CGD (gp91phox deficiency) and 10 healthy adult volunteers. Case presentations of patient p47-1 and p47-2 and the sibling cases of p67-1.1 and p67-1.2 have been reported elsewhere [9,10]. Patients p67-2.1 and p67-2.2 were also sibling cases.…”

Section: Patientsmentioning

confidence: 66%

Rapid Detection of Intracellular p47phox and p67phox by Flow Cytometry; Useful Screening Tests for Chronic Granulomatous Disease

et al. 2013

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Chronic granulomatous disease (CGD) is caused by defects of NADPH oxidase.The diagnosis of CGD can be made by analysis of NADPH oxidase activity, however, identification of the CGD subgroups is required before performing mutation analysis. The membrane-bound subunits, gp91phox and p22phox, can be quickly analyzed by flow cytometry, unlike the cytosolic components, p47phox and p67phox. We evaluated the feasibility of flow cytometric detection of p47phox and p67phox with specific monoclonal antibodies in two patients with p47phox deficiency and 7 patients with p67phox deficiency. Consistent with previous observations, p47phox and p67phox were expressed in phagocytes and B cells, but not in T or natural killer cells, from normal controls. In contrast, patients with p47phox and p67phox deficiency showed markedly reduced levels of p47phox and p67phox, respectively. These techniques will be useful to rapidly assess the expression of the cytosolic components, p47phox and p67phox, and represents important secondary screening tests for CGD.

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Section: Patientsmentioning

confidence: 66%

Rapid Detection of Intracellular p47phox and p67phox by Flow Cytometry; Useful Screening Tests for Chronic Granulomatous Disease

et al. 2013

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“… a Accession number in database at http://www.uta.fi/imt/bioinfo/NCF1base/. b One patient is a compound heterozygote for this mutation and for an undefined chromosomal microdeletion on the other allele [58]. …”

Section: Figurementioning

confidence: 99%

“… b One patient is a compound heterozygote for this mutation and for an undefined chromosomal microdeletion on the other allele [58]. …”

Section: Figurementioning

confidence: 99%

Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)

Roos

Kuhns

Maddalena³

et al. 2010

Blood Cells, Molecules, and Diseases

172

156

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“…To our knowledge, only two cases of WBS associated with CGD have been reported in the literature, but in both reports the genetic defects were not fully characterized. 10,11 Here we report the complete phenotypic and genotypic characterization of two cases of WBS associated with AR 47 0 CGD. Unlike in other previously reported cases of WBS, in which the size of the microdeletion at 7q11.23 was approximately determined by fluorescence in situ hybridization (FISH), a genome-wide array-comparative genomic hybridization study was used to detect the size of the deletion in both patients.…”

Section: Introductionmentioning

confidence: 98%

Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

et al. 2013

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Brion 9,10 and Dirk Roos 8,10Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with multi-systemic manifestations, caused by a heterozygous segmental deletion of 1.55-1.83 Mb at chromosomal band 7q11.23. The deletion can include the NCF1 gene that encodes the p47 phox protein, a component of the leukocyte NADPH oxidase enzyme, which is essential for the defense against microbial pathogens. It has been postulated that WBS patients with two functional NCF1 genes are more susceptible to occurrence of hypertension than WBS patients with only one functional NCF1 gene. We now describe two extremely rare WBS patients without any functional NCF1 gene, because of a mutation in NCF1 on the allele not carrying the NCF1-removing WBS deletion. These two patients suffer from chronic granulomatous disease with increased microbial infections in addition to WBS. Interestingly, one of these patients did suffer from hypertension, indicating that other factors than NADPH oxidase in vascular tissue may be involved in causing hypertension.

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A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease

Cited by 16 publications

References 13 publications

Rapid Detection of Intracellular p47phox and p67phox by Flow Cytometry; Useful Screening Tests for Chronic Granulomatous Disease

Rapid Detection of Intracellular p47phox and p67phox by Flow Cytometry; Useful Screening Tests for Chronic Granulomatous Disease

Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)

Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

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