Chronic granulomatous disease
| Chronic granulomatous disease | |
|---|---|
 |
|
| Superoxide | |
| Classification and external resources | |
| Specialty | hematology |
| ICD-10 | D71 |
| ICD-9-CM | 288.1 |
| OMIM | 306400 233690 233700 |
| DiseasesDB | 2633 |
| MedlinePlus | 001239 |
| eMedicine | ped/1590 derm/719 |
| Patient UK | Chronic granulomatous disease |
| MeSH | D006105 |
Chronic granulomatous disease (CGD) (also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome) is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens. This leads to the formation of granulomata in many organs. CGD affects about 1 in 200,000 people in the United States, with about 20 new cases diagnosed each year.
This condition was first discovered in 1950 in a series of 4 boys from Minnesota, and in 1957 was named "a fatal granulomatosus of childhood" in a publication describing their disease. The underlying cellular mechanism that causes chronic granulomatous disease was discovered in 1967, and research since that time has further elucidated the molecular mechanisms underlying the disease.Bernard Babior made key contributions in linking the defect of superoxide production of white blood cells, to the etiology of the disease. In 1986, the X-linked form of CGD was the first disease for which positional cloning was used to identify the underlying genetic mutation.
Chronic granulomatous disease is the name for a genetically heterogeneous group of immunodeficiencies. The core defect is a failure of phagocytic cells to kill organisms that they have engulfed because of defects in a system of enzymes that produce free radicals and other toxic small molecules. There are several types, including:
Classically, patients with chronic granulomatous disease will suffer from recurrent bouts of infection due to the decreased capacity of their immune system to fight off disease-causing organisms. The recurrent infections they acquire are specific and are, in decreasing order of frequency:
Most people with CGD are diagnosed in childhood, usually before age 5. Early diagnosis is important since these people can be placed on antibiotics to ward off infections before they occur. Small groups of CGD patients may also be affected by McLeod syndrome because of the proximity of the two genes on the same X-chromosome.
...
Wikipedia