The importance of genetic testing for CGD

Genetic testing can confirm CGD and identify CGD type when CGD is suspected.1 Patients and their families may also benefit from genetic counseling to better understand CGD and genetic testing options. Connect with a representative to learn more about no-cost genetic testing for CGD.

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Importance of Family Testing

The importance of testing X-linked carriers

Carrier testing should be done for at-risk relatives of patients with CGD, especially for females, because autoimmune events are more common in female carriers than in healthy individuals.2,3 Female carriers demonstrate both normal and deficient neutrophil function. While CGD carriers are usually not affected, they can exhibit CGD-like symptoms such as3-5:

  • Increased risk of infection with certain bacteria or fungi (yeasts and molds)
  • Cutaneous or lupus-like symptoms, such as:
    • skin infections and skin rashes
    • joint pain
    • chronic fatigue
    • photosensitivity
  • Gastrointestinal symptoms

Genetic testing should be performed on females to determine if they are at risk of passing CGD on to subsequent family members, or passing on the trait.

The dihydrorhodamine (DHR) test, the preferred test for CGD, has the ability to assess neutrophil superoxide production. Based on testing, carriers of X-linked CGD may require prophylactic medical management that can change over time as age-related skewing of lyonization may occur as the carriers age. HCPs should monitor carriers and periodically obtain follow-up DHR testing as neutrophil function can decline over time, thereby increasing the risk of potentially serious or life-threatening infections.6

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References: 1. National Library of Medicine. Genetic Testing. National Library of Medicine; 2021. https://medlineplus.gov/genetictesting.html 2. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews® Seattle (WA): University of Washington, Seattle; 1993-2022. 3. 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. 4. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3-10. 5. 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. 6. Henrickson SE, Jongco AM, Thomsen KF, Garabedian EK, Thomsen IP. Noninfectious manifestations and complications of chronic granulomatous disease. J Pediatric Infect Dis Soc. 2018;7(S1):S18-24.

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