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The phagocytes: neutrophils and monocytes.
Over the last 50 years, many genetic and molecular disorders of phagocytes have been identified, leading to improved diagnosis and treatment of conditions which predispose patients to the risk of recurrent fevers and infectious diseases. Expand
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy.
In less-responsive SCN patients, early hematopoietic stem cell transplantation may be a rational option, and risk of MDS/AML may be similar in SDS and SCN. Expand
Severe chronic neutropenia: Treatment and follow‐up of patients in the Severe Chronic Neutropenia International Registry
Data indicate that congenital, cyclic, and idiopathic neutropenia can be effectively treated with long‐term G‐CSF, and the risk of leukemia, osteoporosis, other potentially adverse events, and pregnancy outcome need to be further evaluated with continuing long-term observations. Expand
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
It is indicated that mutations of the gene encoding neutrophil elastase are probably the most common cause for severe congenital neutropenia as well as the cause for sporadic and autosomal dominant cyclic neutropania. Expand
Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency.
The syndrome of Rac2 dysfunction represents a human condition associated with mutation of a Rho GTPase and is another example of human disease associated with abnormalities of small G protein signaling pathways. Expand
Stable long‐term risk of leukaemia in patients with severe congenital neutropenia maintained on G‐CSF therapy
In severe congenital neutropenia (SCN), long‐term therapy with granulocyte colony‐stimulating factor (G‐CSF) has reduced mortality from sepsis, revealing an underlying predisposition toExpand
Regulation of interleukin 8 gene expression by oxidant stress.
It is demonstrated that oxidant stress is an important regulator of IL-8 gene expression and support the hypothesis that low levels of ROI may serve to initiateIL-8 production which then serves to recruit neutrophils to sites of inflammation. Expand
Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy.
Improved survival of congenital neutropenia patients receiving G-CSF therapy may allow time for the expression of the leukemic predisposition that characterizes the natural history of these disorders. Expand
Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis.
Data provide strong support for a UPR model of SCN disease pathogenesis and place SCN in a growing list of human diseases caused by misfolded proteins. Expand
Neutropenia: causes and consequences.
Most severely neutropenic patients have a history of oral ulcers and inflammation and recurrent skin infections, and examination of a bone marrow aspirate and/or biopsy and cytogenetic testing are primary for diagnostic evaluation. Expand