Chronic granulomatous disease (CGD) encompasses a group of rare inherited disorders characterized by defects in a phagocyte-specific NADPH-oxidase complex that forms the superoxide radical during the respiratory burst. In this chapter, the protein components and cellular biochemistry of the oxidase are reviewed in light of recent genetic and biochemical studies of CGD. The classification and mo...

OBJECTIVES Patients with chronic granulomatous disease and carrier mothers of patients with chronic granulomatous disease are predisposed to developing various forms of lupus. This disorder is a neutrophil defect in intracellular killing. Abnormal apoptosis has been described. We hypothesized that abnormal apoptosis occurring in neutrophils of patients made them more immunogenic. METHODS Huma...

The predominant genetic defect causing p47phox –deficient chronic granulomatous disease (A47 8 CGD) is a GT deletion ( D GT) at the beginning of exon 2. No explanation exists to account for the high incidence of this single mutation causing a rare disease in an unrelated, racially diverse population. In each of 34 consecutive unrelated normal individuals, both the normal and mutant D GT sequenc...

The mechanisms regulating activation of the respiratory burst enzyme, NADPH oxidase, of human neutrophils (PMN) are not yet understood, but protein phosphorylation may play a role. We have utilized a defect in a cytosolic factor required for NADPH oxidase activation observed in two patients with the autosomal recessive form of chronic granulomatous disease (CGD) to examine the role of protein p...

tuberculoma is one of the causes of the space occupying lesions in brain. its manifestations can mimic many diseases such as tumor, vasculitis, and multiple sclerosis.a patient with brain tuberculoma secondary to epidymitis is reported. his symptoms and signs were verysimilar to the patients with multiple sclerosis. the physicians must keep in mind this disease in the differentialdiagnosis with...

A 2 year old girl presented with epilepsy 16 months after being diagnosed as having autosomal recessive chronic granulomatous disease. Computed tomography showed a cerebral mass which was surgically removed and proved histologically to be an aspergilloma. This case illustrates the application of molecular diagnostic techniques to the diagnosis of chronic granulomatous disease. The occurrence of...

Malakoplakie is a chronic granulomatous inflammatory disease, which usually affects the genitourinary tract and less frequently other sites such as, kidney, ureter, bladder, bone, lung, skin, gastrointestinal ovary.