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Family testing for chronic granulomatous disease (CGD)

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.

Family Testing Guide
Family Testing PDF
View Resource

Help Patients Understand the importance of Family Testing

Inheriting CGD

CGD is a disorder that affects phagocyte function caused by mutations in any of 5 subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system. There are 2 major types of CGD: X-linked and autosomal recessive.1

X-linked CGD

Males who inherit the mutation will be affected, while females who inherit the mutation will be carriers and may also be at risk because autoimmune events are more common in female CGD carriers than in healthy individuals.1-3

X-linked CGD inheritance pattern chart showing a 50% chance of offspring being unaffected, a 25% chance of carrier female offspring, and a 25% chance of affected boy offspring

Autosomal recessive CGD

Autosomal recessive CGD can be passed down when both parents have a gene mutation. Each child has a 25% chance of being affected, 50% chance of being an asymptomatic carrier, and 25% chance of not being affected and not being a carrier.1

CGD is most commonly inherited in an X-linked mode, with the subunit gp91phox of NADPH oxidase being affected; all other CGD-related subunit deficiencies are inherited in an autosomal recessive mode.1,4,5 CGD can also arise from a de novo mutation.5 The vast majority of patients with autosomal recessive CGD have p47phox deficiency.1,4,5

Because of the differences in subunit deficiencies and inheritance of CGD, there is heterogeneity in disease onset and severity.1,4,5

Subunit (Gene) Mode of Inheritence Frequency Sex Affected
gp91 phox (CYBB) X linked 65-70%1,4,5 Male/rare in females
p47 phox   (NCF1) Autosomal recessive 20-25%1,4,5 Male/Female
p67 phox   (NCF2) Autosomal recessive 5-6%1,4,5 Male/Female
p22 phox   (CYBA) Autosomal recessive 3-6%1,4,5 Male/Female
p40 phox   (NCF4) Autosomal recessive 25 cases6
EROS    (CYBC1) Autosomal recessive 9 cases7
Subunit (Gene): gp91 phox (CYBB) Mode of Inheritence: X linked Frequency: 65-70%1,4,5 Sex Affected: Male/rare in females
Subunit (Gene): p47 phox (NCF1) Mode of Inheritence: Autosomal recessive Frequency: 20-25%1,4,5 Sex Affected: Male/Female
Subunit (Gene): p67 phox (NCF2) Mode of Inheritence: Autosomal recessive Frequency: 5-6%1,4,5 Sex Affected: Male/Female
Subunit (Gene): p22 phox (CYBA) Mode of Inheritence: Autosomal recessive Frequency: 3-6%1,4,5 Sex Affected: Male/Female
Subunit (Gene): p40 phox (NCF4) Mode of Inheritence: Autosomal recessive Frequency: 25 cases6
Subunit (Gene): EROS (CYBC1) Mode of Inheritence: Autosomal recessive Frequency: 9 cases7

The data in the above table is from the 1980s and 1990s, which may not fully reflect current distributions based on improved diagnostic tests.

Stay informed about ACTIMMUNE and CGD
  • 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; 1993-2022. 2. Rider NL, Jameson MB, Creech CB. Chronic granulomatous disease: epidemiology, pathophysiology, and genetic basis of disease. J Pediatric Infect Dis Soc. 2018;7(suppl 1):S2-S5. 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. Kuhns DB, Alvord WG, Heller T, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010;363(27):2600-2610. 6. van de Geer A, Nieto-Patlán A, Kuhns DB, et al. Inherited p40phox deficiency differs from classic chronic granulomatous disease. J Clin Invest. 2018;128(9):3957-3975. 7. Dinauer MC. Inflammatory consequences of inherited disorders affecting neutrophil function. Blood. 2019;133(20):2130-2139.

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-1b, 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
    • Myelosuppression or receiving other potentially myelosuppressive agents
    • Severe renal insufficiency
    • Age <1 year
  • Monitoring:
    • Before starting ACTIMMUNE and every 3 months during treatment, hematologic tests, blood chemistries, and urinalysis are recommended for all patients
    • Patients begun on ACTIMMUNE before the age of 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

USE IN SPECIFIC POPULATIONS

  • ACTIMMUNE should be used during pregnancy only if the potential benefit to the patient outweighs the potential risk to the fetus
  • It is not known if ACTIMMUNE is excreted in human milk, so either ACTIMMUNE or nursing should be discontinued dependent on the importance of the drug to the patient
  • In younger patients, long-term effects of ACTIMMUNE on fertility are not known
  • In animal studies, both male and female fertility was negatively impacted by doses significantly higher than the maximum clinical dose

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

Please see Full Prescribing Information for additional safety information.

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-1b, 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
    • Myelosuppression or receiving other potentially myelosuppressive agents
    • Severe renal insufficiency
    • Age 1 year
  • Monitoring:
    • Before starting ACTIMMUNE and every 3 months during treatment, hematologic tests, blood chemistries, and urinalysis are recommended for all patients
    • Patients begun on ACTIMMUNE before the age of 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

USE IN SPECIFIC POPULATIONS

  • ACTIMMUNE should be used during pregnancy only if the potential benefit to the patient outweighs the potential risk to the fetus
  • It is not known if ACTIMMUNE is excreted in human milk, so either ACTIMMUNE or nursing should be discontinued dependent on the importance of the drug to the patient
  • In younger patients, long-term effects of ACTIMMUNE on fertility are not known
  • In animal studies, both male and female fertility was negatively impacted by doses significantly higher than the maximum clinical dose

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

Please see Full Prescribing Information for additional safety information.