Because chronic granulomatous disease (CGD) is an inherited disorder, families of patients with CGD may benefit from DHR testing. Testing can help distinguish CGD subtype and evaluate the risk of infection in an
X-linked carrier.
An X-linked carrier mother has a 50% chance of having a carrier daughter or an affected son.1
With autosomal recessive CGD, both parents are typically carriers, and each child has a 25% chance of being affected and a 50% chance of being an autosomal recessive carrier.1 Occasionally, however, one parent is a carrier and one parent is affected by a de novo mutation.
X-linked and autosomal recessive carriers may benefit from genetic counseling prior to starting a family. Sixty-five percent of CGD cases follow an X-linked inheritance pattern, highlighting the necessity of testing all extended female relatives of CGD patients, for the disease.2 While X-linked CGD carriers themselves may not be affected, they can exhibit CGD symptoms such as3-5:
- Discoid lupus
- Photosensitive rashes
- Dermatitis
- Stomatitis
Female carriers of X-linked diseases often learn about their condition later in life.6* Identifying these carriers through genetic testing is essential for ensuring they receive evaluation and treatment for their symptoms.
Symptoms of X-linked carriers are often unrecognized resulting in unmet patient needs
Family testing enables proactive management of CGD
Family testing enables proactive management of CGD
Action Steps for Healthcare Providers
1.
Identify Potential X-Linked Carriers: Be vigilant in recognizing symptoms in family members of diagnosed CGD patients, particularly females.
2.
Advocate for Genetic Testing: Encourage genetic testing and counseling for extended female relatives of diagnosed individuals to assess x-linked carriers and understand the implications for family planning.
3.
Educate and Support: Provide education on inheritance patterns, risks, and management strategies for CGD, empowering families to make informed decisions.
4.
Facilitate Access to Testing and Counseling: Act as a liaison to genetic counseling and testing services, ensuring families have the resources and support needed to navigate these processes.
*In a survey of 150 females with X-linked conditions conducted by Remember the Girls. Conditions represented include Aarskog syndrome, adrenoleukodystrophy, Alport syndrome, Barth syndrome, blue cone monochromacy, choroideremia, chronic granulomatous disease, Conradi-Hünermann, Duchenne/Becker muscular dystrophy, fragile X syndrome, hemophilia A/B, Kennedy’s disease, L1 syndrome, Lesch-Nyhan syndrome, MECP2-related disorders, myotubular myopathy, ornithine transcarbamylase deficiency, X-linked chondrodysplasia punctata type 1, X-linked hypophosphatemia, X-linked ichthyosis, X-linked severe combined immunodeficiency.
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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; 1993-2022. 2. Noack D, Rae J, Cross AR, et al. Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. Blood. 2001;97(1):305-311. 3. Holland SM. Chronic granulomatous disease. Hematol Oncol Clin North Am. 2013;27(1):89-99. 4. 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. 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. 6. Choi J, Kane T, Propst L, Spencer S, Kostialik J, Arjunan A. Not just carriers: experiences of X-linked female heterozygotes. J Assist Reprod Genet. 2021;38(10):2757-2767.