Diagnosis of chronic granulomatous disease [letter; comment]

Diagnosis of Chronic Granulomatous Disease

prenatal diagnosis of chronic granulomatous disease in a male fetus

mutations in any of four known nadph-oxidase components lead to cgd. x-linked cgd (x-cgd) is caused by defects in cybb, the gene that encodes gp91-phox. autosomal recessive (ar) cgd is caused by defects in the genes for p47 phox, p22-phox or p67-phox. the aim of this study was to screen the molecular defect in the fetus of an x-cgd carrier mother and postnatal confirmation of the results. in a ...

Chronic Granulomatous Disease, Case Report and Review of Literature

  Chronic granulomatous disease (CGD) is a rare inherited disorder characterized by inability of phagocytes to generate oxygen radicals needed for intracellular killing of phagocytic microorganisms. We report a 2.5-year-old Iranian female with multiple liver abscesses. She was admitted in surgical ward because of abdominal pain and fever for one month duration that had no response to conventio...

Postmortem diagnosis of chronic granulomatous disease: how worthwhile is it?

A previously healthy 11 year old boy died unexpectedly after a rapid course of progressive pneumonia. Postmortem microbiology and histopathology suggested an underlying diagnosis of chronic granulomatous disease. This was confirmed by neutrophil oxidative burst and gene mutation analysis of other family members, one of whom benefited from early bone marrow transplantation.

Chronic Granulomatous Disease

Background: Chronic granulomatous disease (CGD) is an uncommon primary immunodeficiency that can be inherited in an X-linked (XL) or an autosomal recessive (AR) manner. We reviewed our large, single-center US experience with CGD. Methods: We reviewed 27 patients at Ann & Robert H. Lurie Children's Hospital of Chicago from March 1985 to November 2013. Fisher exact test was used to compare differ...