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About 380 results

ALLMedicine™ Severe Congenital Neutropenia Center

Research & Reviews  189 results

A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital N...
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...

PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.
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...

Analysis of ascending aortic diameter and long-term prognosis in patients with ascendin...
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 ...

A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broad...
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...

Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent ce...
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...

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Clinicaltrials.gov  191 results

A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital N...
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...

PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.
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...

Analysis of ascending aortic diameter and long-term prognosis in patients with ascendin...
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 ...

A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broad...
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...

Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent ce...
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...

see more →