نتایج جستجو برای: severe congenital neutropenia
تعداد نتایج: 443969 فیلتر نتایج به سال:
BACKGROUND Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition. Available single disease registries provide reliable information regarding natural history, efficacy and side effects of treatments, and contribute to the discovery of the causative genes. However, these registries could not shed li...
Severe congenital neutropenia (SCN) and Clostridium septicum myonecrosis is an uncommon and life-threatening association requiring urgent combined aggressive medical and surgical management. We report 2 cases of SCN (1 with known Kostmann's syndrome and 1 not known at presentation to have a congenital neutropenic disorder but subsequently received a diagnosis of cyclic neutropenia) who presente...
In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutropenia (SCN).
Neutropenia is a granulocyte disorder characterized by a dramatically low number of neutrophils, the most important type of white blood cell. The condition results in susceptibility to severe pyogenic infections. Some people are born with it (congenital neutropenia), and others develop it as young children. The disease is so-called chronic neutropenia when lasting more than two months. This art...
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