Chronic granulomatous disease in Israel: Clinical, functional and molecular studies of 38 patients

Wolach, Baruch; Gavrieli, Ronit; Boer, Martin de; Gottesman, Giora; Ben‐Ari, Josef; Rottem, Menachem; Schlesinger, Yechiel; Grisaru‐Soen, Galia; Etzioni, Amos; Roos, Dirk

doi:10.1016/j.clim.2008.06.012

Cited by 85 publications

(89 citation statements)

References 35 publications

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“…The respiratory burst in TD granulocytes, evaluated as the oxygen consumption to produce superoxide anion after PMA addition, was comparable to reported control values (1.1 to 7.7 37 Table 5). Upon activation, the maximum oxidative burst rate and the total amount of oxygen consumed in 5 minutes by granulocytes from children with autism was 24% and 40% of that from TD children, respectively (P , .05; Table 2, Supplemental Table 5).…”

supporting

confidence: 85%

Deficits in Bioenergetics and Impaired Immune Response in Granulocytes From Children With Autism

Napoli¹,

Wong²,

Hertz‐Picciotto

et al. 2014

Pediatrics

103

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Despite the emerging role of mitochondria in immunity, a link between bioenergetics and the immune response in autism has not been explored. Mitochondrial outcomes and phorbol 12-myristate 13-acetate (PMA)-induced oxidative burst were evaluated in granulocytes from age-, race-, and gender-matched children with autism with severity scores of $7 (n = 10) and in typically developing (TD) children (n = 10). The oxidative phosphorylation capacity of granulocytes was 3-fold lower in children with autism than in TD children, with multiple deficits encompassing $1 Complexes. Higher oxidative stress in cells of children with autism was evidenced by higher rates of mitochondrial reactive oxygen species production (1.6-fold), higher mitochondrial DNA copy number per cell (1.5-fold), and increased deletions. Mitochondrial dysfunction in children with autism was accompanied by a lower (26% of TD children) oxidative burst by PMA-stimulated reduced nicotinamide-adenine dinucleotide phosphate (NADPH) oxidase and by a lower gene expression (45% of TD children' s mean values) of the nuclear factor erythroid 2-related factor 2 transcription factor involved in the antioxidant response. Given that the majority of granulocytes of children with autism exhibited defects in oxidative phosphorylation, immune response, and antioxidant defense, our results support the concept that immunity and response to oxidative stress may be regulated by basic mitochondrial functions as part of an integrated metabolic network.

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supporting

confidence: 85%

Deficits in Bioenergetics and Impaired Immune Response in Granulocytes From Children With Autism

Napoli¹,

Wong²,

Hertz‐Picciotto

et al. 2014

Pediatrics

103

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“…The underlying CYBB mutation of c.1016C>A (p.P339H) in the present patient was previously reported in 10 families of X-CGD patients [28][29][30][31][32][33] (http://structure.bmc.lu.se/idbase/) ( Table 2). The patients from nine families were all classified into classical X-CGD.…”

Section: Discussionsupporting

confidence: 57%

“…The patients from nine families were all classified into classical X-CGD. One of the patients, diagnosed as having X-CGD at the age of 3.5 years, required bone marrow transplantation following severe bacterial infections [32]. His ROI production of neutrophils measured by DHR assay revealed zero, while that of monocytes was not determined.…”

Section: Discussionmentioning

confidence: 99%

Monocyte/macrophage-Specific NADPH Oxidase Contributes to Antimicrobial Host Defense in X-CGD

et al. 2015

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“…However, the relative rates of X-linked compared to recessive CGD are very distinct. In many countries with high rates of consanguineous marriage recessive CGD rates exceed X-linked rates (15,16). Clinically, Xlinked gp91 phox deficient CGD is more severe with earlier presentation and diagnosis, and more severe infections and earlier death than the p47 phox deficient form (14,15).…”

mentioning

confidence: 99%