Severe congenital neutropenia (kostmann syndrome)
Author
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 11, Issue 1 (31 May. 2010), pp.1-9, 9 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2010-05-31
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Topics
Abstract EN
Severe congenital neutropenia (SCN), Kostmann syndrome is a heterogenous disorder of myelopoiesis characterized by severe chronic neutropenia, absolute neutrophil count (ANC) persistently below 0.50 x 109/L, with maturation arrest of neutrophil precursors in the bone marrow; and associated with serious recurrent bacterial infections from early infancy.
Sepsis mortality is reduced by an advent of granulocyte colony stimulating factor (G-CSF) therapy.
More than 90% of patients respond to G-CSF therapy.
However, hematopoietic stem cell transplantation has shown promise in the treatment of non-responders.
About 60-80% of SCN cases are associated with constitutive mutations in one copy of the gene encoding neutrophil elastase ELA2.
Myelodysplastic syndrome and acute myeloid leukemia (MDS/AML) have been reported.
The hazard of MDS/AML increases significantly overtime.
Approximately 10% of patients with severe congenital neutropenia develop AML.
This is not thought to be the direct result of G-CSF therapy but related to the underlying disease itself.
American Psychological Association (APA)
al-Jauni, Suad Khalil. 2010. Severe congenital neutropenia (kostmann syndrome). The Egyptian Journal of Medical Human Genetics،Vol. 11, no. 1, pp.1-9.
https://search.emarefa.net/detail/BIM-261905
Modern Language Association (MLA)
al-Jauni, Suad Khalil. Severe congenital neutropenia (kostmann syndrome). The Egyptian Journal of Medical Human Genetics Vol. 11, no. 1 (May. 2010), pp.1-9.
https://search.emarefa.net/detail/BIM-261905
American Medical Association (AMA)
al-Jauni, Suad Khalil. Severe congenital neutropenia (kostmann syndrome). The Egyptian Journal of Medical Human Genetics. 2010. Vol. 11, no. 1, pp.1-9.
https://search.emarefa.net/detail/BIM-261905
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 6-9
Record ID
BIM-261905