Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Department of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Immunol Invest. 2022 Apr;51(3):558-566. doi: 10.1080/08820139.2020.1853153. Epub 2020 Dec 2.
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.
腺苷脱氨酶 2 型缺乏症(DADA2)是一种以免疫、血液和神经表现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)和原发性免疫缺陷病(包括自身免疫性淋巴增生性疾病)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体验。