chronic granulomatous disease (cgd) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (nadph) oxidase complex. this complex is composed of membrane-bound gp91- phox and p22- phox subunits, and cytosolic subunits consisting of p47- phox , p67- phox , and p40- phox . a mutation in cybb gene encoding gp91- ph...

chronic granulomatous disease (cgd) is a rare primary immunodeficiency disease. although the most affected patients are diagnosed in childhood, there are several reports of the disease presenting in adult patients. here we present a 40 years old man who was admitted in hospital due to respiratory symptoms and ground glass pattern in high resolution computed tomography of lung. open lung biopsy ...

BACKGROUND Chronic granulomatous disease (CGD) is an inherited disorder of phagocytic cells caused by an inability to generate active microbicidal oxygen species required kill certain types of fungi and bacteria. This leads to recurrent life-threatening bacterial and fungal infections with tissue granuloma formation. CASE PRESENTATION We describe a case of X-linked Chronic granulomatous disea...

chronic granulomatous disease (cgd) is an inherited primary immunodeficiency disease which increases the body’ssusceptibility to infections caused by certain bacteria and fungi. cgd is a rare disease, caused by four genes, one type is 1xlinked and the other three are “autosomal recessive”. although clinical presentation is variable, but characteristic featuresare recurrent pneumonia, lymphadeni...

Homozygous mutations in cytochrome b-245 chaperone 1 (CYBC1) have been recently described as causing recurrent infections and inflammatory disease an Icelandic cohort a patient from Saudi Arabia, by destabilising the dimerisation of gp91phox with p22phox, manifesting phenotypic chronic granulomatous (CGD). Haematopoietic stem cell transplantation is treatment choice CGD, though experience this ...

Chronic granulomatous disease (CGD) is a rare, polygenic primary immunodeficiency. In this case report, we describe a previously healthy 13-year-old boy who presented with multifocal pulmonary aspergillosis and was subsequently diagnosed with an autosomal recessive form of chronic granulomatous disease. CGD has a variable natural history and age of presentation and should be considered when inv...

BACKGROUND Chronic granulomatous disease (CGD) is a rare inherited disease of the phagocyte NADPH oxidase system that causes defective production of toxic oxygen metabolites, impaired bacterial and fungal killing, and recurrent life-threatening infections, mostly by catalase-producing organisms. We report for the first time, to our knowledge, chronic infections with Actinomyces species in 10 pa...

We present a case of invasive pulmonary aspergillosis (IPA) in a previously healthy young woman who presented with what initially appeared to be an acute eosinophilic pneumonia. A second lung biopsy taken after treatment with steroids showed invasive Aspergillus with associated necrotizing granulomas, a pattern commonly found in chronic granulomatous disease (CGD). Both siblings, and by extrapo...