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Chronic Granulomatous Disease

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Mary C. Dinauer, MD, PhD, Department of Pediatrics and Department of Pathology & Immunology, St. Louis Children's Hospital, Washington University School of Medicine, for assistance in the preparation of this report.

Synonyms of Chronic Granulomatous Disease

  • CGD
  • chronic dysphagocytosis
  • chronic granulomatous disease
  • congenital dysphagocytosis
  • fatal granulomatous disease of childhood
  • granulomatosis, chronic, familial
  • granulomatosis, septic, progressive
  • impotent neutrophil syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chronic granulomatous disease (CGD) is a rare inherited primary immune deficiency disorder that affects certain white blood corpuscles (neutrophils, monocytes, macrophages, eosinophils). The disorder is characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. Symptoms usually begin in infancy or childhood. Individuals with mild forms of the disorder may not develop symptoms until the teens or adulthood. Chronic granulomatous disease is a genetic disorder and is caused by inherited defects in an important enzyme in white blood cells that manufactures oxidants for microbial killing.

Organizations related to Chronic Granulomatous Disease

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