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- Title
Late Onset of Chronic Granulomatous Disease Revealed by Paecilomyces lilacinus Cutaneous Infection.
- Authors
Lemaigre, Clément; Suarez, Felipe; Martellosio, Jean-Philippe; Barbarin, Cindy; Brunet, Kévin; Chomel, Jean Claude; Hainaut, Ewa; Rammaert, Blandine; Roblot, France; Torregrosa-Diaz, José Miguel
- Abstract
Chronic granulomatous disease (CGD) is an inherited immunodeficiency due to defective leukocyte NADPH responsible for recurrent infections and aberrant inflammation. Mutations in the CYBB gene are responsible for the X-linked CGD and account for approximately 70% of the cases. CGD is diagnosed during childhood in males. Female carriers may have biased X-inactivation and may present with clinical manifestations depending on the level of residual NADPH oxidase activity. We report the case of a previously asymptomatic female carrier who was diagnosed at age 67 with a skin infection with the rare fungus Paecilomyces lilacinus as the first manifestation of CGD. Dihydrorhodamine 123 (DHR) activity was below 10%. Next-generation sequencing (NGS) revealed mutations in DNMT3A, ASXL1, and STAG2 suggesting that clonal hematopoiesis could be responsible for a progressive loss of NADPH oxidase activity and the late onset of X-linked CGD in this patient. Long-term follow-up of asymptomatic carrier women seems to be essential after 50 years old.
- Subjects
CHRONIC granulomatous disease; PAECILOMYCES; NADPH oxidase; SYMPTOMS; ASYMPTOMATIC patients
- Publication
Journal of Clinical Immunology, 2022, Vol 42, Issue 1, p60
- ISSN
0271-9142
- Publication type
Article
- DOI
10.1007/s10875-021-01140-1