ELANE基因突变所致严重先天性中性粒细胞减少症中中性粒细胞特异性抗体的高患病率。
A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia.
作者信息
Dobrewa Weronika, Madzio Joanna, Babol-Pokora Katarzyna, Lopacz Patrycja, Gierszon Agnieszka, Guz Katarzyna, Orzinska Agnieszka, Uhrynowska Malgorzata, Jasinska Aleksandra, Zdunek Maciej, Mlynarski Wojciech, Janczar Szymon
机构信息
Department of Pediatrics, Oncology and Haematology, Medical University of Lodz, Lodz, Poland.
Department of Hematological and Transfusion Immunology, Institute of Hematology and Transfusion Medicine, Warsaw, Poland.
出版信息
Pediatr Blood Cancer. 2023 Apr;70(4):e30247. doi: 10.1002/pbc.30247. Epub 2023 Feb 3.
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 neutropenia consortium database for the outcomes of antibody testing initiated before receiving genetic diagnosis in Polish SCN cohort. Test results, performed in a single reference laboratory, were available for 14 patients with ELANE-mutated SCN or cyclic neutropenia, and were frequently positive (36%). We note that the trigger for genetic studies in severe neutropenia should not be affected by antibody-positivity and should be clinically driven.
中性粒细胞特异性抗体检测常用于慢性重度中性粒细胞减少症的检查，提示自身免疫性或偶发性同种免疫性中性粒细胞减少症，而非严重先天性中性粒细胞减少症（SCN）。我们分析了一个中性粒细胞减少症联合数据库，以了解波兰SCN队列中在接受基因诊断之前进行抗体检测的结果。在一个参考实验室对14例ELANE突变的SCN或周期性中性粒细胞减少症患者进行了检测，结果往往呈阳性（36%）。我们注意到，严重中性粒细胞减少症基因研究的触发因素不应受抗体阳性的影响，而应由临床驱动。
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