CGD Specialty Center

Review the patient and radiographic images below to better understand how infections and granulomas may present in patients with CGD.

  • Rheumatology
  • Dermatology
  • Gastroenterology

Osteomyelitis, hepatic abscess, and lymphadenitis may be signs of chronic granulomatous disease.1

Autoimmune disorders are common in CGD. Some autoimmune diseases reported in individuals with CGD include juvenile idiopathic arthritis, autoimmune pulmonary disease, and myasthenia gravis.1

Side-by-side X-ray images showing early signs of osteomyelitis in a 4-year-old patient with Chronic Granulomatous Disease (CGD), with arrows pointing to the affected bone areas.

Side-by-side X-ray images showing early signs of osteomyelitis in a 4-year-old patient with Chronic Granulomatous Disease (CGD), with arrows pointing to the affected bone areas.

Osteomyelitis in a patient aged 4 years with CGD who presented with a limp.3

X-ray image showing pulmonary infection in an 8-year-old patient with Chronic Granulomatous Disease (CGD), with an arrow indicating the area of infection.

X-ray image showing pulmonary infection in an 8-year-old patient with Chronic Granulomatous Disease (CGD), with an arrow indicating the area of infection.

8-year-old patient with CGD presenting with pulmonary infection, fever, and respiratory distress.3

Infections and granulomatous lesions are usually the first manifestations of CGD, with the skin being among the most frequently impacted sites.1

Granulomatous plaque of cutaneous aspergillosis on the left foot of a 13-year-old patient with Chronic Granulomatous Disease (CGD).

Granulomatous plaque of cutaneous aspergillosis on the left foot of a 13-year-old patient with Chronic Granulomatous Disease (CGD).

Granulomatous plaque of cutaneous aspergillosis located on the left foot in a patient aged 13 years with CGD.2

Vesicular lesions on the neck of an 8-year-old boy with X-linked Chronic Granulomatous Disease (CGD), measuring 2 to 3 mm

Vesicular lesions on the neck of an 8-year-old boy with X-linked Chronic Granulomatous Disease (CGD), measuring 2 to 3 mm

Vesicular lesions present in an 8-year-old boy with X-linked CGD. The vesicles measured 2 mm to 3 mm and were located predominantly on the neck and torso.2

Gastrointestinal symptoms indicative of CGD may include pyloric edema, abdominal pain, diarrhea, and perirectal granulomas.1

Imaging of gastric outlet obstruction in a 9-year-old boy with Chronic Granulomatous Disease

Imaging of gastric outlet obstruction in a 9-year-old boy with Chronic Granulomatous Disease

Gastric outlet obstruction in a symptomatic boy aged 9 years with CGD.3

CT scan of a 2-month-old CGD patient showing intra-abdominal infection and protuberant abdomen

CT scan of a 2-month-old CGD patient showing intra-abdominal infection and protuberant abdomen

2-month-old CGD patient presenting with intra-abdominal infection, fever, and protuberant abdomen.3

The most frequent sites of infection, common infectious complications, and location of common inflammatory complications due to CGD include1:

Graphic showing Chronic Granulomatous Disease affecting many body organs where symptoms occur through infections and/or inflammation, including the lymph nodes, liver, colon, bones, lungs, stomach, urinary tract, and skin

Graphic showing Chronic Granulomatous Disease affecting many body organs where symptoms occur through infections and/or inflammation, including the lymph nodes, liver, colon, bones, lungs, stomach, urinary tract, and skin

Early diagnosis is beneficial for patients with CGD because they are susceptible to serious infections.1,4* If CGD is suspected, a dihydrorhodamine (DHR) test can confirm a diagnosis.

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Look for pathogens that may indicate CGD

Many severe infections in patients with CGD in North America are caused by a select group of organisms, both bacterial and fungal.1,5-10 Most of these pathogens, including Aspergillus, Nocardia, Serratia, Burkholderia, Klebsiella, and Staphylococcus aureus, are catalase-positive.5,6 In patients with CGD, these catalase-positive pathogens are noteworthy because they can neutralize some of the hydrogen peroxide produced by neutrophils other than those in nicotinamide adenine dinucleotide phosphate (NADPH) oxidase.6

Most frequent pathogens and common presentations associated with CGD†

Fungal
Microscopic view of Aspergillus species, the most common cause of invasive fungal infections including pneumonia, lymphadenitis, osteomyelitis, and brain abscess.
Aspergillus species are the most common cause of invasive fungal infections.1

Common presentation: pneumonia, lymphadenitis, osteomyelitis, brain abscess

Microscopic view of Candida species associated with sepsis, soft tissue infection, and liver abscess.
Candida species‡

Common presentation: sepsis, soft tissue infection, liver abscess

Bacterial

Staphylococcus aureus, Burkholderia cepacia complex, Serratia marcescens, and Nocardia species are the primary causes of most infections in individuals with CGD.1,9

Microscopic view of Nocardia species, commonly presenting with pneumonia, osteomyelitis, and brain abscess.
Nocardia species

Common presentation: pneumonia, osteomyelitis, brain abscess

Microscopic view of Serratia marcescens, commonly presenting with osteomyelitis and soft tissue infections; less commonly with pneumonia and sepsis.
Serratia marcescens

Common presentation: osteomyelitis, soft tissue infections; less common presentation: pneumonia, sepsis

Microscopic view of Burkholderia (formerly pseudomonas) cepacia complex
Burkholderia (formerly pseudomonas) cepacia complex

Common presentation: pneumonia, sepsis

Microscopic view of Klebsiella species
Klebsiella species

Common presentation: pneumonia, skin infections, lymphadenitis

Microscopic view of Staphylococcus aureus
Staphylococcus aureus

Common presentation: soft tissue infections, lymphadenitis, liver abscess, perirectal abscess, osteomyelitis, pneumonia, sepsis

*Serious infection is defined as a clinical event requiring hospitalization and/or intravenous antibiotics.

†This is not a complete list of pathogens. Infections may also be caused by other species of bacteria and fungi not listed here.

‡Candida is most commonly reported in the EU.

Speak with a representative to learn more about CGD sequelae

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Learn how to interpret DHR histograms when testing for CGD

Review Example Graphs

1. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews®. Washington, Seattle: University of Washington, Seattle; 1993-2022. 2. Dohil M, Prendiville JS, Crawford RI, Speert DP. Cutaneous manifestations of chronic granulomatous disease. A report of four cases and review of the literature. J Am Acad Dermatol. 1997;36(6 pt 1):899-907. 3. Khanna G, Kao SC, Kirby P, Sato Y. Imaging of chronic granulomatous disease in children. Radiographics. 2005;25(5):1183-1195. 4. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3-10. 5. Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015;136(5):1186-1205.e1-e78. 6. Bortoletto P, Lyman K, Camacho A, et al. Chronic granulomatous disease: a large, single-center US experience. Pediatr Infect Dis J. 2015;34(10):1110-1114. 7. Leiding JW, Malech HL, Holland SM. Clinical Focus on Primary Immunodeficiencies: Chronic Granulomatous Disease. Immune Deficiency Foundation; 2013. 8. Marciano BE, Zerbe CS, Falcone EL, et al. X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability. J Allergy Clin Immunol. 2018;141(1):365-371. 9. Song E, Jaishankar GB, Saleh H, Jithpratuck W, Sahni R, Krishnaswamy G. Chronic granulomatous disease: a review of the infectious and inflammatory complications. Clin Mol Allergy. 2011;9(1):10-24. 10. van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234.