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Author: Brian Wu PhD. MD Candidate, Keck School of Medicine, Los Angeles, USA; Chief Editor: Dr Amanda Oakley, Dermatologist, Hamilton, New Zealand, September 2015.
Chronic granulomatous disease is a primary immune deficiency due to functional defects in neutrophils and macrophages. It is characterised by:
The patient’s immune system is otherwise normal and the phagocytes are still capable of eliminating most pathogens.
Chronic granulomatous disease is also called chronic septic granulomatosis, Bridges–Good syndrome and Quie syndrome.
Chronic granulomatous disease is rare and is estimated to occur in approximately 1 in 250,000 to 500,000 births. Most affected individuals are male.
There are five distinct genetic mutations associated with the development of chronic granulomatous disease. In 70% of cases, this mutation is X-linked and only presents in males. The other four mutations are located on different chromosomes and inherited in an autosomal recessive pattern. About 15% of these cases are female.
The disease is due to an abnormal enzyme, NADPH oxidase.
Common signs and symptoms for chronic granulomatous disease include:
Infants with chronic granulomatous disease present with:
Diagnosis of chronic granulomatous disease is based on patient’s signs and symptoms and history of specific recurrent infections.
Tests used to diagnose chronic granulomatous disease include:
DHR is also known as the Neutrophil Oxidative Burst Measurement test. It assesses phagocyte production of hydrogen peroxide and other important chemicals. Nitroblue tetrazolium is not considered as accurate as DHR. After diagnosis, further testing is done to establish the genetic subtype.
Chronic granulomatous disease is treated with:
Chronic granulomatous disease can be cured by bone marrow transplant but this procedure is complex and this option is not available to all patients.
Due to advances in medical technology/treatment, the prognosis for chronic granulomatous disease patients has improved substantially. Many patients are able to lead full and healthy lives, with some restrictions such as:
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