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About 118 results

ALLMedicine™ Severe Congenital Neutropenia Center

Research & Reviews  47 results

Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review ...
https://doi.org/10.2174/1871530321666210616110631
Endocrine, Metabolic & Immune Disorders Drug Targets; Maroufi SF, Shaka Z et. al.

Jun 18th, 2021 - Severe congenital neutropenia (SCN4) caused by mutations in glucose-6- phosphatase catalytic subunit 3 (G6PC3) is characterized by recurrent infections due to severe neutropenia, may be accompanied by other extra-hematopoietic manifestations; incl...

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 10th, 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...

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 10th, 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...

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 21st, 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 19th, 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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