医学
中性粒细胞减少症
先天性中性粒细胞减少
周期性中性粒细胞减少
免疫学
抗体
内科学
化疗
作者
Weronika Dobrewa,Joanna Madzio,Katarzyna Bąbol‐Pokora,Patrycja Łopacz,Agnieszka Wróbel,Katarzyna Guz,Agnieszka Orzińska,Małgorzata Uhrynowska,Aleksandra Jasinska,Maciej Zdunek,Wojciech Młynarski,Szymon Janczar
摘要
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.
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