Understanding the risk of X-linked patients
X-linked CGD accounts for approximately 65% of CGD cases.1 About 10%-15% of X-linked mutations are the result of new random mutations.2
X-linked CGD often presents early in life with most cases diagnosed by age 5.3
X-linked carriers may experience infections and other symptoms
X-linked carriers can experience various symptoms and may be at risk for serious infections.* Symptomatic mothers of sons with X-linked CGD should be monitored as potential patients as they may present with signs of CGD and experience a wide range of inflammatory and autoimmune symptoms, including4-8
A 2018 study found that 48% of X-linked carriers reported infections, autoimmune symptoms, or both.5 As a result, X-linked carriers of CGD may be at risk of serious infection, should be evaluated, routinely tested, and monitored as patients, as DHR values may change over time.5
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 X-linked carriers than in healthy individuals.3,6 Female X-linked carriers can demonstrate both normal and deficient neutrophil function.7,8
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, a common 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. Healthcare providers 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.9
*Serious infection is defined as a clinical event requiring hospitalization and/or intravenous antibiotics.
INDICATIONS AND USAGE
ACTIMMUNE® (Interferon gamma-1b) is indicated:
Important Safety Information
CONTRAINDICATIONS
WARNINGS AND PRECAUTIONS
USE IN SPECIFIC POPULATIONS
DRUG INTERACTIONS
ADVERSE REACTIONS
Please see Full Prescribing Information for additional safety information.
INDICATIONS AND USAGE
ACTIMMUNE® (Interferon gamma-1b) is indicated:
Important Safety Information
CONTRAINDICATIONS
WARNINGS AND PRECAUTIONS
USE IN SPECIFIC POPULATIONS
DRUG INTERACTIONS
ADVERSE REACTIONS
Please see Full Prescribing Information for additional safety information.