ABSTRACT

Deficiency of adenosine deaminase type 2 (DADA2) is an autoinflammatory disease characterized with immunologic, hematologic, and neurological features. Here, we presented two patients with severe persistent chronic neutropenia, which required differential diagnosis of congenital and autoimmune neutropenia, myelodysplastic syndrome (MDS), and primary immunodeficiency diseases, including autoimmune lymphoproliferative disease. The therapy of the disease except hematopoietic stem cell transplantation is a challenging experience.

中文翻译：

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腺苷脱氨酶 II 型缺乏症：严重的慢性中性粒细胞减少症、骨髓淋巴浸润和炎症特征

摘要

2 型腺苷脱氨酶 (DADA2) 缺乏症是一种以免疫学、血液学和神经学特征为特征的自身炎症性疾病。在这里，我们介绍了两名患有严重持续性慢性中性粒细胞减少症的患者，需要对先天性和自身免疫性中性粒细胞减少症、骨髓增生异常综合征 (MDS) 和包括自身免疫性淋巴组织增生性疾病在内的原发性免疫缺陷疾病进行鉴别诊断。除造血干细胞移植外，该疾病的治疗是一项具有挑战性的经历。