Sorbonne Université, AP-HP, Tenon hospital, Department of Internal Medicine, Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), Paris, France.
Sorbonne Université, AP-HP, Tenon Hospital, Department of Dermatology, Paris, France.
Semin Arthritis Rheum. 2021 Dec;51(6):1170-1179. doi: 10.1016/j.semarthrit.2021.09.001. Epub 2021 Sep 16.
Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease usually presenting before the age of 10 years. Non-specific clinical features or late-onset presentation may delay its diagnosis until adulthood.
To determine whether DADA2 diagnosed in adulthood is associated with specific characteristics compared to DADA2 diagnosed in childhood.
We pooled a cohort of 12 adult DADA2 patients followed in France with cases identified through a systematic literature review. For each patient, we determined the type of clinical presentation and assessed six key organ involvements.
A total of 306 cases were included. Among the 283 patients with available data regarding age at diagnosis, 140 were diagnosed during adulthood and 143 during childhood. The vascular presentation of DADA2 was more frequent in the adult diagnosis group (77.9% vs. 62.9%, p < 0.01), whereas the hematological presentation (bone marrow failure) prevailed in the pediatric diagnosis group (10.0% vs. 20.3% p = 0.02). In patients with vasculopathy, severe skin manifestations developed in 35% and 10% of the adult and pediatric diagnosis groups, respectively. Conversely, fewer strokes occurred in the adult group presenting with systemic vasculopathy (54% vs. 81%). Symptomatic humoral immune deficiency (HID) was rarely a clinical presentation in itself (5% and 2.8%) but accompanied other phenotypes of DADA2, especially the hematological phenotype in the adult group (33% vs. 4%).
DADA2 diagnosed in adulthood presents more often with a vascular phenotype and less often with bone marrow failure than DADA2 diagnosed in childhood. Adults diagnosed with DADA2 vasculopathy display more severe skin involvement but fewer strokes.
腺苷脱氨酶 2 缺乏症（DADA2）是一种罕见的自身炎症性疾病，通常在 10 岁之前发病。非特异性临床表现或发病较晚可能会导致其在成年后才被诊断。
确定成年后诊断的 DADA2 是否与儿童期诊断的 DADA2 相比具有特定特征。
我们汇集了法国的 12 名成年 DADA2 患者的队列，并通过系统文献综述确定了病例。对于每个患者，我们确定了临床表现类型，并评估了六个关键器官的受累情况。
共纳入 306 例病例。在有诊断时年龄数据的 283 例患者中，140 例在成年期诊断，143 例在儿童期诊断。血管表现型 DADA2 在成年诊断组更为常见（77.9% vs. 62.9%，p<0.01），而血液学表现型（骨髓衰竭）在儿科诊断组更为常见（10.0% vs. 20.3%，p=0.02）。在有血管病变的患者中，严重皮肤表现分别出现在成年组和儿童组中的 35%和 10%。相反，在出现系统性血管病变的成年组中，中风的发生率较低（54% vs. 81%）。有症状的体液免疫缺陷（HID）很少作为其本身的临床表现（5%和 2.8%），但伴随 DADA2 的其他表型，尤其是成年组中的血液学表型（33% vs. 4%）。
成年后诊断的 DADA2 比儿童期诊断的 DADA2 更常表现为血管表型，较少表现为骨髓衰竭。成年诊断的 DADA2 血管病变患者皮肤受累更严重，但中风更少。
