CGD affects multiple organs

Knowing what to look for can aid in the diagnosis of chronic granulomatous disease (CGD). CGD affects multiple organ systems, particularly any major viscus organ. Granulomas tend to form at sites of hollow organs, like the bladder or gastrointestinal (GI) tract.1

Most frequent sites of infection and common infectious and inflammatory complications1
Infographic showing Chronic Granulomatous Disease affecting many body organs, including the lymph nodes, lungs, liver, stomach, colon, urinary tract, bones, and skin Infographic showing Chronic Granulomatous Disease affecting many body organs, including the lymph nodes, lungs, liver, stomach, colon, urinary tract, bones, and skin Infographic showing Chronic Granulomatous Disease affecting many body organs, including the lymph nodes, lungs, liver, stomach, colon, urinary tract, bones, and skin

Patients also exhibit growth retardation and failure to thrive in childhood and have abnormal wound healing.1

Look for the pathogens that may indicate CGD1-7

Patients with primary immunodeficiencies present frequently with chronic and/or recurrent infections caused by a broad array of pathogens and do so early in life. The large majority of severe infections in patients with CGD in North America are caused by a particular group of organisms, both bacterial and fungal.

Top pathogens and common presentation associated with CGD1-7

Fungal
Aspergillus fungal pathogen icon

Aspergillus species
Common presentation: pneumonia, lymphadenitis, osteomyelitis, brain abscess

Candida species fungal pathogen icon

Candida species
Common presentation: sepsis, soft tissue infection, liver abscess

Bacterial
Nocardia species bacterial pathogen icon

Nocardia species
Common presentation: pneumonia, osteomyelitis, brain abscess

Serratia marcescens bacterial pathogen icon

Serratia marcescens
More common presentation: osteomyelitis, soft tissue infections
Less common presentation: pneumonia, sepsis

Burkholderia (pseudomonas) cepacia complex bacterial pathogen icon

Burkholderia (pseudomonas) cepacia complex
Common presentation: pneumonia, sepsis

Klebsiella species bacterial pathogen icon

Klebsiella species
Common presentation: pneumonia, skin infections, lymphadenitis

Staphylococcus aureus bacterial pathogen icon

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

Recognize your VEO-IBD patients who may have CGD

GI inflammation is a common manifestation of CGD.8 Approximately 66% of patients with CGD experience chronic and/or acute GI inflammation throughout their lifetime.9 Similarities with IBD may lead to misdiagnosis of CGD.

median age of diagnosis

median age of diagnosis

median age of diagnosis

median age of diagnosis

Patients may present with diarrhea, abdominal pain, constipation, weight loss, failure to thrive, presence of granuloma, and perianal and liver abscesses.1,9

†In general, the gene defects that have been detected with the highest frequency in patients with VEO-IBD can prompt specific targeted therapies that include: defects that lead to CGD (NADPH complex defects), IL-10R, and XIAP.8

X-Linked carriers may experience infections and other symptoms

X-linked carriers can experience various symptoms and may be at risk for serious infections.* Up to 23% of carriers may experience CGD-related, lupus-like symptoms including4,10-13:

  • skin rash
  • sensitivity to the sun
  • pain and swelling of the joints
  • feeling tired all the time
  • weight loss

*Serious infection was defined as a clinical event requiring hospitalization and intravenous antibiotics.

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References: 1. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews® Seattle (WA): University of Washington, Seattle; August 9, 2012. 2. 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. 3. Leiding JW, Malech HL, Holland SM. Chronic granulomatous disease. Clinical Focus on Primary Immunodeficiencies. 2013;15:1-9. 4. 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. 5. van den Berg JM, van Koppen E, Ahlin A, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234. 6. Marciano BE, Spalding C, Fitzgerald A, et al. Common severe infections in chronic granulomatous disease. Clin Infect Dis. 2015;60(8):1176-1183. 7. 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. 8. Kelsen JR, Sullivan KE, Rabizadeh S, et al. North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition position paper on the evaluation and management for patients with very early-onset inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2020;70(3):389-403. 9. Alimchandani M, Lai J-P, Aung PP, et al. Gastrointestinal histopathology in chronic granulomatous disease: a study of 87 patients. Am J Surg Pathol. 2013;37(9):1365-1372. 10. Magnani A, Brosselin P, Beauté J, et al. Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. J Allergy Clin Immunol. 2014;134(3):655-662.e8. 11. Battersby AC, Bruggins H, Pearce MS, et al. Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom. J Allergy Clin Immunol. 2017;140(2):628-630.e6. 12. Holland SM. Chronic granulomatous disease. Hematol Oncol Clin North Am. 2013;27(1):89-99. 13. 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.

Approved Uses and Important Safety Information

INDICATIONS AND USAGE

ACTIMMUNE® (Interferon gamma-1b) is indicated:

  • For reducing the frequency and severity of serious infections associated with Chronic Granulomatous Disease
  • For delaying time to disease progression in patients with severe, malignant osteopetrosis
IMPORTANT SAFETY INFORMATION

CONTRAINDICATIONS

  • In patients who develop or have known hypersensitivity to interferon-gamma, E. coli derived products, or any component of the product

WARNINGS AND PRECAUTIONS

  • ACTIMMUNE should be used with caution in patients with:
    • Pre-existing cardiac conditions, including ischemia, congestive heart failure, or arrhythmia
    • Seizure disorders or compromised central nervous system function; reduce dose or discontinue
    • Myelosuppression, or receiving other potentially myelosuppressive agents; consider dose reduction or discontinuation of therapy
    • Severe renal insufficiency
    • Age <1 year
  • Monitoring:
    • Patients begun on ACTIMMUNE before age 1 year should receive monthly assessments of liver function. If severe hepatic enzyme elevations develop, ACTIMMUNE dosage should be modified
    • Monitor renal function regularly when administering ACTIMMUNE in patients with severe renal insufficiency; accumulation of interferon gamma-1b may occur with repeated administration. Renal toxicity has been reported in patients receiving ACTIMMUNE
  • Pregnancy, Lactation, and Fertility:
    • ACTIMMUNE should be used during pregnancy only if the potential benefit outweighs the potential risk to the fetus
    • Use of ACTIMMUNE by lactating mothers is not recommended. ACTIMMUNE or nursing should be discontinued dependent on the importance of the drug to the mother
    • Long-term effects of ACTIMMUNE on fertility are not known

DRUG INTERACTIONS

  • Concomitant use of drugs with neurotoxic, hematotoxic, or cardiotoxic effects may increase the toxicity of interferons
  • Avoid simultaneous administration of ACTIMMUNE with other heterologous serum protein or immunological preparations (eg, vaccines)

ADVERSE REACTIONS

  • The most common adverse experiences occurring with ACTIMMUNE therapy are “flu-like” symptoms such as fever, headache, chills, myalgia, or fatigue, which may decrease in severity as treatment continues, and may be minimized by bedtime administration of ACTIMMUNE. Acetaminophen may be used to prevent or partially alleviate the fever and headache
  • Isolated cases of acute serious hypersensitivity reactions have been observed in patients receiving ACTIMMUNE
  • Reversible neutropenia, thrombocytopenia, and elevations of AST and/or ALT have been observed during ACTIMMUNE therapy
  • At doses 10 times greater than the weekly recommended dose, ACTIMMUNE may exacerbate pre-existing cardiac conditions, or may cause reversible neurological effects such as decreased mental status, gait disturbance, and dizziness

Approved Uses and Important Safety Information

INDICATIONS AND USAGE

ACTIMMUNE® (Interferon gamma-1b) is indicated:

  • For reducing the frequency and severity of serious infections associated with Chronic Granulomatous Disease
  • For delaying time to disease progression in patients with severe, malignant osteopetrosis
IMPORTANT SAFETY INFORMATION

CONTRAINDICATIONS

  • In patients who develop or have known hypersensitivity to interferon-gamma, E. coli derived products, or any component of the product

WARNINGS AND PRECAUTIONS

  • ACTIMMUNE should be used with caution in patients with:
    • Pre-existing cardiac conditions, including ischemia, congestive heart failure, or arrhythmia
    • Seizure disorders or compromised central nervous system function; reduce dose or discontinue
    • Myelosuppression, or receiving other potentially myelosuppressive agents; consider dose reduction or discontinuation of therapy
    • Severe renal insufficiency
    • Age <1 year
  • Monitoring:
    • Patients begun on ACTIMMUNE before age 1 year should receive monthly assessments of liver function. If severe hepatic enzyme elevations develop, ACTIMMUNE dosage should be modified
    • Monitor renal function regularly when administering ACTIMMUNE in patients with severe renal insufficiency; accumulation of interferon gamma-1b may occur with repeated administration. Renal toxicity has been reported in patients receiving ACTIMMUNE
  • Pregnancy, Lactation, and Fertility:
    • ACTIMMUNE should be used during pregnancy only if the potential benefit outweighs the potential risk to the fetus
    • Use of ACTIMMUNE by lactating mothers is not recommended. ACTIMMUNE or nursing should be discontinued dependent on the importance of the drug to the mother
    • Long-term effects of ACTIMMUNE on fertility are not known

DRUG INTERACTIONS

  • Concomitant use of drugs with neurotoxic, hematotoxic, or cardiotoxic effects may increase the toxicity of interferons
  • Avoid simultaneous administration of ACTIMMUNE with other heterologous serum protein or immunological preparations (eg, vaccines)

ADVERSE REACTIONS

  • The most common adverse experiences occurring with ACTIMMUNE therapy are “flu-like” symptoms such as fever, headache, chills, myalgia, or fatigue, which may decrease in severity as treatment continues, and may be minimized by bedtime administration of ACTIMMUNE. Acetaminophen may be used to prevent or partially alleviate the fever and headache
  • Isolated cases of acute serious hypersensitivity reactions have been observed in patients receiving ACTIMMUNE
  • Reversible neutropenia, thrombocytopenia, and elevations of AST and/or ALT have been observed during ACTIMMUNE therapy
  • At doses 10 times greater than the weekly recommended dose, ACTIMMUNE may exacerbate pre-existing cardiac conditions, or may cause reversible neurological effects such as decreased mental status, gait disturbance, and dizziness