Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease
نویسندگان
چکیده
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...
متن کاملSkewed X-inactivation in carriers of X-linked dyskeratosis congenita.
A gene causing Dyskeratosis Congenita (DC), a rare genetic disorder associated with bone marrow failure, has been mapped to chromosome Xq28, but autosomal inheritance of the disease has also been reported. We have investigated the pattern of X-inactivation in the peripheral blood of carriers of DC using the methylation-sensitive Hpa II site in the androgen receptor gene (HUMARA). In 5 different...
متن کاملX-linked inheritance in females with chronic granulomatous disease.
Chronic granulomatous disease in males is familial and its transmission is is usually clearly x-linked. The mode of inheritance in females with the syndrome is unknown and the carrier state difficult to identify. Defective polymorphonuclear leukocyte bactericidal activity in this disease is associated with an absence of the respiratory burst generated in stimulated phagocytes and may be detecte...
متن کاملRespiratory burst activity in late pregnancy in a carrier of X-linked chronic granulomatous disease.
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...
متن کاملEarly cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.
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ژورنال
عنوان ژورنال: Iranian Journal of Allergy, Asthma and Immunology
سال: 2019
ISSN: 1735-5249,1735-1502
DOI: 10.18502/ijaai.v18i4.1425