Search engine for discovering works of Art, research articles, and books related to Art and Culture
Javascript must be enabled to continue!
Congenital neutropenia
View through CrossRef
Abstract
Congenital neutropenia comprises a variety of genetically heterogeneous phenotypic traits. Molecular elucidation of the underlying genetic defects has yielded important insights into the physiology of neutrophil differentiation and function. Non-syndromic variants of congenital neutropenia are caused by mutations in ELA2, HAX1, GFI1, or WAS. Syndromic variants of congenital neutropenia may be due to mutations in genes controlling glucose metabolism (SLC37A4, G6PC3) or lysosomal function (LYST, RAB27A, ROBLD3/p14, AP3B1, VPS13B). Furthermore, defects in genes encoding ribosomal proteins (SBDS, RMRP) and mitochondrial proteins (AK2, TAZ) are associated with congenital neutropenia syndromes. Despite remarkable progress in the field, many patients with congenital neutropenia cannot yet definitively be classified by genetic terms. This review addresses diagnostic and therapeutic aspects of congenital neutropenia and covers recent molecular and pathophysiological insights of selected congenital neutropenia syndromes.
Title: Congenital neutropenia
Description:
Abstract
Congenital neutropenia comprises a variety of genetically heterogeneous phenotypic traits.
Molecular elucidation of the underlying genetic defects has yielded important insights into the physiology of neutrophil differentiation and function.
Non-syndromic variants of congenital neutropenia are caused by mutations in ELA2, HAX1, GFI1, or WAS.
Syndromic variants of congenital neutropenia may be due to mutations in genes controlling glucose metabolism (SLC37A4, G6PC3) or lysosomal function (LYST, RAB27A, ROBLD3/p14, AP3B1, VPS13B).
Furthermore, defects in genes encoding ribosomal proteins (SBDS, RMRP) and mitochondrial proteins (AK2, TAZ) are associated with congenital neutropenia syndromes.
Despite remarkable progress in the field, many patients with congenital neutropenia cannot yet definitively be classified by genetic terms.
This review addresses diagnostic and therapeutic aspects of congenital neutropenia and covers recent molecular and pathophysiological insights of selected congenital neutropenia syndromes.
Related Results
A Single-Center Large Cohort of Chronic Neutropenia Patients and a Model for Estimation of Congenital Neutropenias
A Single-Center Large Cohort of Chronic Neutropenia Patients and a Model for Estimation of Congenital Neutropenias
Chronic neutropenia (CrN) is defined as neutropenia lasting longer than 3 months and has various underlying etiologies, including congenital neutropenia (CN). We aimed to determine...
Home monitoring of neutrophil counts by patients with cyclic and congenital neutropenia
Home monitoring of neutrophil counts by patients with cyclic and congenital neutropenia
Abstract
Background: Currently most blood cell counts are performed at clinical laboratories which is time-consuming, co...
Modern approaches to the treatment of congenital neutropenia
Modern approaches to the treatment of congenital neutropenia
Neutropenia is common in the practice of both primary care physicians and physicians of sub-speciality. Congenital neutropenia are rare diseases; they can be both isolated independ...
The prevalence of neutropenia in chemotherapy cancer patients at a provincial hospital, Thailand
The prevalence of neutropenia in chemotherapy cancer patients at a provincial hospital, Thailand
Abstract
Introduction
Cancer patients with neutropenia (<1500 cell/mm3 absolute neutrophil count [ANC]) are at high risk ...
Incidence, Management and Predictors of Chemotherapy-Induced Neutropenia among Adult Solid Cancer Patients at the University of Gondar Comprehensive and Specialized Hospital: A Retrospective Follow-up Study
Incidence, Management and Predictors of Chemotherapy-Induced Neutropenia among Adult Solid Cancer Patients at the University of Gondar Comprehensive and Specialized Hospital: A Retrospective Follow-up Study
Abstract
Background
chemotherapy-induced neutropenia is the most well-known oncologic emergencies and the most common hematologic toxicity of chemotherapy. A few studies h...
Two siblings with Majeed syndrome and neutropenia
Two siblings with Majeed syndrome and neutropenia
Majeed syndrome (MS) is a rare monogenic autoinflammatory disease characterized with early-onset chronic non-bacterial osteitis (CNO) and hematological features, particularly dyser...
Maternal Micronutrients, Environmental Exposures, and Congenital Heart Disease: Expanding Opportunities for Prevention
Maternal Micronutrients, Environmental Exposures, and Congenital Heart Disease: Expanding Opportunities for Prevention
Congenital heart disease (CHD) remains the most common congenital anomaly worldwide and a leading cause of infant morbidity and mortality. Despite remarkable advances in prenatal d...
Outcome of Febrile Neutropenia in Children with Cancer: Experience from a Tertiary Health Care Center
Outcome of Febrile Neutropenia in Children with Cancer: Experience from a Tertiary Health Care Center
Background: Febrile neutropenia (FN) is a serious event in children with cancer; associated with various complications and mentionable adverse outcome.Objective: To identify the ou...