ALLMedicine™ Severe Congenital Neutropenia Center
Research & Reviews 51 results
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...
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...
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...
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...
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...