Atypical X-Linked Variant of Chronic Granulomatous Disease
نویسندگان
چکیده
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 کاملA New X - Linked Variant of Chronic
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متن کاملVariant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant
Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by increased susceptibility to bacteria and fungi since early in life, caused by mutations in any of the five genes coding for protein subunits in NADPH oxidase. X-linked variant CGD can be missed during routine evaluation or present later in life due to hypomorphic mutations and a residual superoxide production. Th...
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 کاملThe use of reverse transcription-PCR for the diagnosis of X-linked chronic granulomatous disease.
Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by a defective oxidative burst of phagocytes and subsequent impairment of their microbicidal activity. Mutations in one of the NADPH-oxidase components affect gene expression or function of this system, leading to the phenotype of CGD. Defects in gp91-phox lead to X-linked CGD, responsible for...
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ژورنال
عنوان ژورنال: Journal of the Royal Society of Medicine
سال: 1990
ISSN: 0141-0768,1758-1095
DOI: 10.1177/014107689008301217