Male X-chromosome mosaicism leading to carrier phenotype and inheritance of 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 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 کاملChronic Granulomatous Disease, Case Report and Review of Literature
Chronic granulomatous disease (CGD) is a rare inherited disorder characterized by inability of phagocytes to generate oxygen radicals needed for intracellular killing of phagocytic microorganisms. We report a 2.5-year-old Iranian female with multiple liver abscesses. She was admitted in surgical ward because of abdominal pain and fever for one month duration that had no response to conventio...
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 کاملprenatal diagnosis of chronic granulomatous disease in a male fetus
mutations in any of four known nadph-oxidase components lead to cgd. x-linked cgd (x-cgd) is caused by defects in cybb, the gene that encodes gp91-phox. autosomal recessive (ar) cgd is caused by defects in the genes for p47 phox, p22-phox or p67-phox. the aim of this study was to screen the molecular defect in the fetus of an x-cgd carrier mother and postnatal confirmation of the results. in a ...
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ژورنال
عنوان ژورنال: The Journal of Allergy and Clinical Immunology: In Practice
سال: 2018
ISSN: 2213-2198
DOI: 10.1016/j.jaip.2018.01.017