ALLMedicine™ Severe Congenital Neutropenia Center
Research & Reviews 189 results
https://doi.org/10.1097/MPH.0000000000002071
Journal of Pediatric Hematology/oncology; Goktas S, Azizoglu ZB et. al.
Feb 9th, 2021 - Severe congenital neutropenia (SCN) is a rare disease. Autosomal recessive forms of SCN are more frequent in countries where consanguineous marriages are common. In this report, we describe a 54-day-old female with neutropenia who presented with e...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876869
Blood Advances; Olofsen PA, Bosch DA et. al.
Feb 9th, 2021 - Mutations in ELANE cause severe congenital neutropenia (SCN), but how they affect neutrophil production and contribute to leukemia predisposition is unknown. Neutropenia is alleviated by CSF3 (granulocyte colony-stimulating factor) therapy in most...
https://doi.org/10.1111/echo.14980
Echocardiography (Mount Kisco, N.Y.); Wu Y, Gong M et. al.
Feb 2nd, 2021 - Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment of severe congenital neutropenia (SCN), but data on outcome are scarce. We report on the outcome of 136 SCN patients who underwent HSCT between 1990 and 2012 ...
https://doi.org/10.1016/j.jmoldx.2020.10.014
The Journal of Molecular Diagnostics : JMD; McNulty SN, Evenson MJ et. al.
Nov 20th, 2020 - Severe congenital neutropenia (SCN) is a collection of diverse disorders characterized by chronically low absolute neutrophil count in the peripheral blood, increased susceptibility to infection, and a significant predisposition to the development...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839451
British Journal of Haematology; Khandagale A, Holmlund T et. al.
Nov 18th, 2020 - Severe congenital neutropenia (SCN) of autosomal recessive inheritance, also known as Kostmann disease, is characterised by a lack of neutrophils and a propensity for life-threatening infections. Using whole-exome sequencing, we identified homozyg...
Clinicaltrials.gov 191 results
https://doi.org/10.1097/MPH.0000000000002071
Journal of Pediatric Hematology/oncology; Goktas S, Azizoglu ZB et. al.
Feb 9th, 2021 - Severe congenital neutropenia (SCN) is a rare disease. Autosomal recessive forms of SCN are more frequent in countries where consanguineous marriages are common. In this report, we describe a 54-day-old female with neutropenia who presented with e...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876869
Blood Advances; Olofsen PA, Bosch DA et. al.
Feb 9th, 2021 - Mutations in ELANE cause severe congenital neutropenia (SCN), but how they affect neutrophil production and contribute to leukemia predisposition is unknown. Neutropenia is alleviated by CSF3 (granulocyte colony-stimulating factor) therapy in most...
https://doi.org/10.1111/echo.14980
Echocardiography (Mount Kisco, N.Y.); Wu Y, Gong M et. al.
Feb 2nd, 2021 - Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment of severe congenital neutropenia (SCN), but data on outcome are scarce. We report on the outcome of 136 SCN patients who underwent HSCT between 1990 and 2012 ...
https://doi.org/10.1016/j.jmoldx.2020.10.014
The Journal of Molecular Diagnostics : JMD; McNulty SN, Evenson MJ et. al.
Nov 20th, 2020 - Severe congenital neutropenia (SCN) is a collection of diverse disorders characterized by chronically low absolute neutrophil count in the peripheral blood, increased susceptibility to infection, and a significant predisposition to the development...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839451
British Journal of Haematology; Khandagale A, Holmlund T et. al.
Nov 18th, 2020 - Severe congenital neutropenia (SCN) of autosomal recessive inheritance, also known as Kostmann disease, is characterised by a lack of neutrophils and a propensity for life-threatening infections. Using whole-exome sequencing, we identified homozyg...