نتایج جستجو برای: severe congenital neutropenia
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Cyclical neutropenia (CN) is an interesting dynamic hematological disease in which the neutrophils spontaneously oscillate from approximately normal levels to near zero with a period between 19 and 21 days. In the only known animal model for this disorder, the grey collie, the disease's single apparent difference from human CN is the smaller period of 11-15 days. CN can be treated using the cyt...
In 1956 Kostmann reported a new disease of infancy which he termed 'infantile genetic agranulocytosis'. He described 14 children of both sexes in nine families. All but two of the children died as a result of the disease. For six of them detailed clinical and histological data were reported. The disease occurs during early infancy with infections particularly of the skin. There is a complete or...
UNLABELLED Congenital neutropenia is a group of genetic disorders that involve chronic neutropenia and susceptibility to infections. These neutropenias may be isolated or associated with immunologic defects or extra-hematopoietic manifestations. Complications may occur as infectious diseases, but also less frequently as myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Recently, t...
Neutropenia is a common reason for hematology consultations in the inpatient and outpatient settings and is defined as an absolute neutrophil count less than 1500 cells/μL. Neutropenia varies in severity, with more profound neutropenia being associated with higher rates of infections and infection-related deaths. The causes for neutropenia are diverse and include congenital and acquired conditi...
Severe congenital neutropenia (SCN) is a condition in which granulocytes mature abnormally owing to variety of genetic defects, resulting immunodeficiency. Among the several variations related SCN, heterozygous mutations ELANE gene encoding neutrophil elastase account for approximately 60% causes. Here, we present three patients from different Vietnamese families who were susceptible infectious...
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