Respiratory burst activity in late pregnancy in a carrier of X-linked chronic granulomatous disease.
نویسندگان
چکیده
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منابع مشابه
X-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 کاملHigh-Level Reconstitution of Respiratory Burst Activity in a Human X- Linked Chronic Granulomatous Disease (X-CGD) Cell Line and Correction of Murine X-CGD Bone Marrow Cells by Retroviral-Mediated Gene Transfer of Human gp91ph""
The X-linked form of chronic granulomatous disease (XCGD) results from mutations in the gene encoding gp9lPhox, a 91-kD membrane glycoprotein that is the larger subunit of the respiratory burst oxidase cytochrome b. In this study, a new retroviral vector for expression of human gp91PhoN, MSCV-h91Neo. based on murine stem cell virus vectors, was evaluated using a human X-CGD myeloid cell line...
متن کاملX-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 کاملSplice site mutations are a common cause of X-linked chronic granulomatous disease.
Chronic granulomatous disease (CGD) is characterized by the absence of a respiratory burst in activated phagocytes. Defects in at least four different genes lead to CGD. Patients with the X-linked form of CGD have mutations in the gene for the beta-subunit of cytochrome b558 (gp91-phox). We studied the molecular defect in four patients with X-linked CGD. In a fifth family, we studied the mother...
متن کاملPhosphorylation of the oxidase-related 48K phosphoprotein family in the unusual autosomal cytochrome-negative and X-linked cytochrome-positive types of chronic granulomatous disease.
Activation of 32P-loaded neutrophils with phorbol myristate acetate causes the labeling of a family of three 48K proteins that focus near neutral pH. The relationship between these phosphoproteins and the activation of the respiratory burst has been supported by the previous finding that phosphorylation was defective in the two most common types of chronic granulomatous disease (CGD): X-linked ...
متن کاملA new X-linked variant of chronic granulomatous disease characterized by the existence of a normal clone of respiratory burst-competent phagocytic cells.
Chronic granulomatous disease (CGD) is characterized by recurrent infections, and is usually associated with a complete inability of phagocytic cells to generate superoxide anion (O2-). Rarely, variant forms of CGD have been reported in which there is reduced, but detectable, O2- production by phagocytic cells. We describe three adult males in two kindreds with a unique form of X-linked cytochr...
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ورودعنوان ژورنال:
- Haematologica
دوره 85 1 شماره
صفحات -
تاریخ انتشار 2000