SRP54 and a need for a new neutropenia nosology
Author:
Affiliation:
1. Virginia Commonwealth University School of Medicine
Publisher
American Society of Hematology
Subject
Cell Biology,Hematology,Immunology,Biochemistry
Link
http://ashpublications.org/blood/article-pdf/132/12/1220/1467310/blood859959.pdf
Reference9 articles.
1. Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome;Bellanné-Chantelot;Blood,2018
2. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features;Carapito;J Clin Invest,2017
3. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients;Bluteau;Blood,2018
4. New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing;Corey;Hematology Am Soc Hematol Educ Program,2017
5. DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation;Tummala;Am J Hum Genet,2016
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1. The metabolic basis of inherited neutropenias;British Journal of Haematology;2023-12-04
2. Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants;Haematologica;2023-05-25
3. Leukaemic transformation in a 10‐year‐old girl with SRP54 congenital neutropenia;British Journal of Haematology;2022-06-22
4. Acute myeloid leukemia in SRP54 ‐mutated congenital neutropenia;eJHaem;2022-03-16
5. Efficacy of Low-Dose rhGM-CSF Treatment in a Patient With Severe Congenital Neutropenia Due to CSF3R Deficiency: Case Report of a Novel Biallelic CSF3R Mutation and Literature Review;Frontiers in Pediatrics;2021-10-29
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