Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells

M Yamada, Y Okura, Y Suzuki, S Fukumura, T Miyazaki… - Gene, 2012 - Elsevier
X-linked chronic granulomatous disease (X-CGD) is a primary immunodeficiency disease of
phagocytes caused by mutations in the cytochrome b558β (CYBB) gene. We, for the first …

[PDF][PDF] Rapid determination of chimerism status using dihydrorhodamine assay in a patient with X-linked chronic granulomatous disease following hematopoietic stem …

HY Kim, HJ Kim, CS Ki, DW Kim… - Annals of Laboratory …, 2013 - synapse.koreamed.org
Chronic granulomatous disease (CGD) is a rare genetic disease, which is caused by defects
in the NADPH oxidase complex (gp91phox, p22phox, p40phox, p47phox, and p67phox) of …

Chronic granulomatous disease

A Rawat, S Bhattad, S Singh - The Indian Journal of Pediatrics, 2016 - Springer
Chronic granulomatous disease (CGD) is the most common symptomatic phagocytic defect.
It is caused by mutations in genes encoding protein subunits of the nicotinamide adenine …

Chronic granulomatous disease: two decades of experience from a tertiary care centre in North West India

A Rawat, S Singh, D Suri, A Gupta, B Saikia… - Journal of clinical …, 2014 - Springer
Chronic granulomatous disease (CGD) results from an inherited defect in the phagocytic
cells of the immune system. It is a genetically heterogenous disease caused by defects in …

X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB exon 3, c. 262G-> A) is mimicking juvenile sarcoidosis.

J Brunner, G Dockter, A Rösen-Wolff… - Clinical and …, 2007 - europepmc.org
X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB
exon 3, c.262G->A) is mimicking juvenile sarcoidosis. - Abstract - Europe PMC Sign in | Create …

Second report of chronic granulomatous disease in Jordan: clinical and genetic description of 31 patients from 21 different families, including families from Lybia and …

FG Bakri, M Mollin, S Beaumel, B Vigne… - Frontiers in …, 2021 - frontiersin.org
Chronic granulomatous Disease (CGD) is a rare innate immunodeficiency disorder caused
by mutations in one of the six genes (CYBA, CYBB, NCF1, NCF2, NCF4, and CYBC1/EROS) …

X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox

CD Porter, MH Parkar, RJ Levinsky, MK Collins… - 1993 - ashpublications.org
Chronic granulomatous disease (CGD) is an inherited immunodeficiency resulting from the
inability of an individual's phagocytes to produce superoxide anions because of defective …

Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced …

PJ Patino, J Rae, D Noack, R Erickson… - Blood, The Journal …, 1999 - ashpublications.org
Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocytes in which
defective production of microbicidal oxidants leads to severe recurrent infections. CGD is …

Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH …

D Noack, J Rae, AR Cross, J Muñoz, S Salmen… - Human genetics, 1999 - Springer
Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency disease that
leads to severe recurrent infections. CGD is caused by defects in the phagocyte NADPH …

[引用][C] Biochemical and genetic diagnosis of chronic granulomatous disease

D Roos, ATJ Tool, K van Leeuwen, M de Boer - Immunology and immune system …, 2017