X-Linked Chronic Granulomatous Disease in a Female Carrier: A Management Challenge
نویسندگان
چکیده
Abstract Chronic granulomatous disease (CGD) is characterized by recurrent bacterial and fungal infections due to reduced nicotinamide adenine dinucleotide phosphate oxidase resulting in impaired production of reactive oxidant species, aberrant inflammation. X-linked CGD (XL-CGD) associated with a mutation the CYBB gene. XL-CGD affects more males, although some females are affected skewed X-inactivation. Though management guidelines for patients exist, they remain lacking clinically female carriers. A 3 year old history hematochezia, oral ulcers, skin who presented fevers pustules. Pustule cultures were positive B. cepacian, colonoscopy was non-acute. Immunology had concern recent atypical dihydrorhodamine (DHR) flow cytometry abnormal, 17.7% (normal greater than 95%). DHR 2 months later showed 13% activation. Genetic testing CYBB, c.45+2dup (intronic), heterozygous, VUS, gene affecting splice site, XL-CGD, NOD2, c.3019dup, 2–4 fold increased risk Crohn’s disease. She started on prophylaxis only. awaiting gp91phox expression sequencing. carriers can be at higher infections, inversely correlated %DHR neutrophil counts, but only apparent less 20%, as levels 10%. our patient Bactrim her there remains question when if she should anti-fungal prophylaxis. There no clear
منابع مشابه
X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother.
BACKGROUND Chronic granulomatous disease (CGD) is a rare primary immunodeficiency (PID) caused by a dysfunctional respiratory burst enzyme NADPH-oxidase. The concurrence of Klinefelter's Syndrome (KS) and CGD would be extremely rare. OBJECTIVE We describe the study of a family where the youngest male child had X-linked CGD (X-CGD) while his older brother was both an X-CGD carrier and a Klinef...
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1. Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet 1999; 353:1167-73. 2. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88:3698-703. 3. Ferraresi P, Marchetti G, Legnani C, et al. The heterozygous...
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ژورنال
عنوان ژورنال: Journal of Immunology
سال: 2023
ISSN: ['1550-6606', '0022-1767']
DOI: https://doi.org/10.4049/jimmunol.210.supp.229.14