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- W4246703103 abstract "Congenital neutropenia (CN) comprises a heterogeneous group of genetically determined disorders characterized by a decrease of neutrophils in the peripheral blood. Low numbers of neutrophils predispose to severe and recurrent bacterial infections such as pneumonia, gingivitis or cellulitis. Patients may suffer from gastrointestinal inflammation and predisposition to bone fractures secondary to osteopenia. Due to the decreased abundance of neutrophils, a characteristic feature of patients with CN is a lack of pus formation at the site of inflammation. Furthermore, CN can be associated with developmental defects and dysfunction of numerous other organ systems. More than a dozen genetic defects transmitted in an autosomal dominant, autosomal recessive, or X-linked recessive manner, have been discovered in patients with congenital neutropenia. The largest subgroup of severe congenital neutropenia is characterized by mutations in the gene encoding neutrophil elastase (ELANE). Kostmann syndrome is caused by mutations in HAX1. Additional genetic defects continue to be discovered and highlight the diversity of this heterogeneous group of disorders. Therapy of congenital neutropenia aims at prevention of microbial infections. Administration of G-CSF can reverse the neutropenia in most patients and has greatly improved life expectancy and quality of life. Defined genetic subgroups of patients with CN are at risk for development of clonal hematopoietic disorders such as myelodysplastic syndromes and acute leukemia. Allogeneic hematopoietic stem cell transplantation remains the only curative therapy of CN." @default.
- W4246703103 created "2022-05-12" @default.
- W4246703103 creator A5066380716 @default.
- W4246703103 date "2020-01-01" @default.
- W4246703103 modified "2023-10-03" @default.
- W4246703103 title "Congenital neutropenia" @default.
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