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About 128 results

ALLMedicine™ Severe Congenital Neutropenia Center

Research & Reviews  51 results

Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.
https://doi.org/10.1002/ajmg.a.63156
American Journal of Medical Genetics. Part A; Fan EM, Vagher J et. al.

Feb 24th, 2023 - Severe congenital neutropenia (SCN) is a rare disorder, often due to pathogenic variants in genes such as ELANE, HAX1, and SBDS. SRP54 pathogenic variants are associated with SCN and Shwachman-Diamond-like syndrome. Thirty-eight patients with SRP5...

A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital ...
https://doi.org/10.1002/pbc.30247
Pediatric Blood & Cancer; Dobrewa W, Madzio J et. al.

Feb 4th, 2023 - An assay for neutrophil-specific antibodies is frequently used in the workup of chronic severe neutropenia and is suggestive of autoimmune, or sporadically alloimmune neutropenia, rather than severe congenital neutropenia (SCN). We analyzed a neut...

Severe congenital neutropenia caused by ELANE gene mutation: A case report and literatu...
https://doi.org/10.1097/MD.0000000000031357
Medicine Wang J, Zhang H et. al.

Nov 8th, 2022 - The Severe congenital neutropenia (SCN) is a rare genetic disease characterized by a deficiency of mature neutrophils in the bone marrow and peripheral blood disorders. After a BALF ACER examination, the patient was found to have a rareMycobacteri...

Truncated CSF3 receptors induce pro-inflammatory responses in severe congenital neutrop...
https://doi.org/10.1111/bjh.18477
British Journal of Haematology; Olofsen PA, Bosch DA et. al.

Sep 29th, 2022 - Severe congenital neutropenia (SCN) patients are prone to develop myelodysplastic syndrome (MDS) or acute myeloid leukaemia (AML). Leukaemic progression of SCN is associated with the early acquisition of CSF3R mutations in haematopoietic progenito...

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...

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