Cyclic Neutropenia with <i>ELANE</i> Gene Mutation in 3 Generations of Kindred
نویسندگان
چکیده
منابع مشابه
the study of aaag repeat polymorphism in promoter of errg gene and its association with the risk of breast cancer in isfahan region
چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
15 صفحه اولCyclic neutropenia.
Cyclic neutropenia is a rare hematologic disorder, characterized by repetitive episodes of fever, mouth ulcers, and infections attributable to recurrent severe neutropenia. Fluctuations in blood cells are due to oscillatory production of cells by the bone marrow. Recent genetic, molecular, and cellular studies have shown that autosomal-dominant cyclic neutropenia and sporadic cases of this dise...
متن کاملCyclic neutropenia in mammals.
Cyclic neutropenia (CN) has been well documented in humans and the gray collie. A recent model of the architecture and dynamics of hematopoiesis has been used to provide insights into the mechanism of cycling of this disorder. It provides a link between the cycling period and the cells where the mutated ELA2 is expressed. Assuming that the biologic defect in CN is the same in dogs, and the obse...
متن کاملclinical and laboratory findings in iranian children with cyclic neutropenia
cyclic neutropenia is a rare immunodeficiency syndrome, characterized by regular periodic oscillations in the circulating neutrophil count from normal to neutropenic levels through 3 weeks period, and lasting for 3-6 days. in order to determine the clinical features of cyclic neutropenia, this study was performed. seven patients with cyclic neutropenia (3 males and 4 females), who experienced n...
متن کاملCyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis: case report
BACKGROUND Cyclic neutropenia is a rare disease. We report a 31-month-old girl with congenital cyclic neutropenia with a novel mutation in the ELANE gene who developed an acute necrotizing soft-tissue infection on her left axillary legion. CASE PRESENTATION A 31-month-old girl was admitted to our pediatric emergency room because of a necrotizing soft tissue infection of the left axillary area...
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ژورنال
عنوان ژورنال: JOURNAL OF THE JAPANESE ASSOCIATION OF RURAL MEDICINE
سال: 2019
ISSN: 0468-2513,1349-7421
DOI: 10.2185/jjrm.67.596