关键词: 腺苷脱氨酶2缺乏症, ADA2基因, 自身炎症性疾病, 血管炎

Abstract: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive inherited autoinflammatory disease. DADA2 is caused by homozygous or complex heterozygous mutations of ADA2 gene resulting in low or insufficient activity of adenosine deaminase 2 (ADA2). The main clinical manifestations of DADA2 in childhood include systemic inflammation,vasculitis, humoral immunodeficiency and hematological abnormalities. Early diagnosis of DADA2 is difficult, and its pathogenesis is unclear. TNF-α receptor inhibitor is the first-line treatment for patients with systemic inflammatory phenotype, followed by thalidomide. Hematopoietic stem cell transplantation (HSTC) has been used mainly in the patients with severe hematological phenotype or having no response to TNF-α receptor inhibitor treatment. In this paper, we reviewed the clinical features, demographic characteristics, genotype and its correlation with clinical phenotype, possible pathogenesis and diagnosis and treatment strategy of DADA2.

Key words:

Deficiency of adenosine deaminase 2, ADA2 gene, Autoinflammatory disease, Vasculitis