Medical expert of the article
New publications
Chronic granulomatous disease: causes, symptoms, diagnosis, treatment
Last reviewed: 07.07.2025
All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.
We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.
If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.
Chronic granulomatous disease is characterized by the inability of leukocytes to produce reactive oxygen species and the inability to phagocytize microorganisms. Manifestations include recurrent infections; multiple granulomatous changes in the lungs, liver, lymph nodes, gastrointestinal tract, and genitourinary tract; abscesses; lymphadenitis; hypergammaglobulinemia; elevated ESR; anemia. Diagnosis is based on the analysis of the ability of leukocytes to produce oxygen radicals using flow cytometry of respiratory washings. Treatment includes antibiotics, antifungals, interferon-γ; granulocyte transfusions may be indicated.
In more than 50% of cases, chronic granulomatosis (CGD) is an X-linked hereditary disease and therefore occurs in males; the remaining cases are inherited in an autosomal recessive manner. In chronic granulomatous disease, leukocytes do not produce superoxide, hydrogen peroxide, and other active oxygen components due to a defect in nicotinamide adenine dinucleotide phosphorylase (NADP). In this regard, there is a violation of the phagocytosis of microorganisms by phagocytic cells, due to which bacteria and fungi are not completely destroyed, as in normal phagocytosis.
[ Symptoms of Chronic Granulomatous Disease
Chronic granulomatous disease typically presents with recurrent abscesses during early childhood, but may present later in early adolescence in some patients. Typical pathogens are catalase-producing organisms (eg, Staphylococcus aureus; Escherichia coli; Serratia, Klebsiella, Pseudomonas sp; fungi). Aspergillus fungi may cause death.
Multiple granulomatous lesions are observed in the lungs, liver, lymph nodes, gastrointestinal and genitourinary tracts (causing obstruction). Purulent lymphadenitis, hepatosplenomegaly, pneumonia are common, there are hematological signs of chronic infections. There are also abscesses of the skin, lymph nodes, lungs, liver, perianal abscesses; stomatitis; osteomyelitis. Growth may be impaired. Hypergammaglobulinemia and anemia are noted, ESR is elevated.
Diagnosis and treatment of chronic granulomatous disease
Diagnosis is made by flow cytometry of bronchoalveolar lavage fluid to measure oxygen radical production. This test also helps identify carriers of X-linked forms of granulomatosis among women.
Antibiotic therapy is with trimethoprim-sulfamethoxazole 160/180 mg orally twice daily as a single dose or cephalexin 500 mg orally every 8 hours. Oral antifungals are given as primary prophylaxis or added if a fungal infection has occurred at least once; the most commonly used are itraconazole orally every 12 hours (100 mg for patients <13 years, 200 mg for patients 13 years or weighing >50 kg) or voriconazole orally every 12 hours (100 mg for patients <40 kg, 200 mg for patients ≥40 kg). Interferon (IFN-γ) may help reduce the severity or frequency of infections, presumably by increasing nonoxidant antimicrobial activity. The usual dose is 50 mcg/m2 subcutaneously 3 times a week. Granulocyte transfusion will be life-saving in severe infectious processes. Bone marrow transplantation from an HLA-identical sibling after pretransplant chemotherapy is successful, and gene therapy may also be effective.