Department of Immunology and Histocompatibility, Faculty of Medicine, University of Thessaly, 41500 Larissa, Greece.
Pediatric Immunology and Rheumatology Referral Center, First Department of Pediatrics, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece.
Medicina (Kaunas). 2024 May 8;60(5):782. doi: 10.3390/medicina60050782.
: Predominantly antibody deficiencies (PAD) represent the most common type of primary immunodeficiencies in humans, characterized by a wide variation in disease onset, clinical manifestations, and outcome. Considering that the prevalence of PAD in Greece is unknown, and there is limited knowledge on the clinical and laboratory characteristics of affected patients, we conducted a nationwide study. : 153 patients (male/female: 66/87; median age: 43.0 years; range: 7.0-77.0) diagnosed, and followed-up between August 1979 to September 2023. Furthermore, we classified our cohort into five groups according to their medical history, immunoglobulin levels, and -mutational status: 123 had common variable immunodeficiency (CVID), 12 patients with "secondary" hypogammaglobulinemia due to a previous B-cell depletion immunotherapy for autoimmune or malignant disease several years ago (median: 9 years, range 6-14) displaying a typical CVID phenotype, 7 with combined IgA and IgG subclass deficiencies, 5 patients with CVID-like disease due to -mediated immune dysregulation syndrome, and 6 patients with unclassified hypogammaglobulinemia. : We demonstrated a remarkable delay in PAD diagnosis, several years after the onset of related symptoms (median: 9.0 years, range: 0-43.0). A family history of PAD was only present in 11.8%, with the majority of patients considered sporadic cases. Most patients were diagnosed in the context of a diagnostic work-up for recurrent infections, or recurrent/resistant autoimmune cytopenias. Interestingly, 10 patients (5.6%) had no history of infection, diagnosed due to either recurrent/resistant autoimmunity, or during a work-up of their medical/family history. Remarkable findings included an increased prevalence of lymphoproliferation (60.1%), while 39 patients (25.5%) developed bronchiectasis, and 16 (10.5%) granulomatous disease. Cancer was a common complication in our cohort (25 patients, 16.3%), with B-cell malignancies representing the most common neoplasms (56.7%). : Our findings indicate the necessity of awareness about PAD and their complications, aiming for early diagnosis and the appropriate management of affected patients.
: 主要抗体缺陷（PAD）是人类最常见的原发性免疫缺陷类型，其发病时间、临床表现和结局差异很大。鉴于希腊 PAD 的患病率未知，且对受影响患者的临床和实验室特征了解有限，我们进行了一项全国性研究。: 1979 年 8 月至 2023 年 9 月期间共诊断并随访了 153 名患者（男/女：66/87；中位年龄：43.0 岁；范围：7.0-77.0）。此外，我们根据患者的病史、免疫球蛋白水平和 -突变状态将队列分为五组：123 名患者患有普通可变免疫缺陷（CVID），12 名患者因几年前自身免疫或恶性疾病的 B 细胞耗竭免疫治疗而出现“继发性”低丙种球蛋白血症（中位：9 年，范围 6-14 年），表现出典型的 CVID 表型，7 名患者伴有 IgA 和 IgG 亚类缺陷，5 名患者患有 -介导的免疫失调综合征引起的 CVID 样疾病，6 名患者患有未分类的低丙种球蛋白血症。: 我们发现 PAD 的诊断存在显著延迟，在相关症状出现后数年（中位：9.0 年，范围：0-43.0）才得到诊断。仅 11.8%的患者有 PAD 家族史，大多数患者被认为是散发病例。大多数患者是在反复感染或反复/难治性自身免疫性血细胞减少症的诊断性检查中被诊断出患有 PAD。有趣的是，10 名患者（5.6%）无感染史，因反复/难治性自身免疫或在对其医疗/家族史进行检查时被诊断出患有 PAD。显著发现包括淋巴增生的患病率增加（60.1%），而 39 名患者（25.5%）患有支气管扩张症，16 名患者（10.5%）患有肉芽肿性疾病。癌症是我们队列中的常见并发症（25 名患者，16.3%），B 细胞恶性肿瘤是最常见的肿瘤（56.7%）。: 我们的研究结果表明，需要提高对 PAD 及其并发症的认识，以便早期诊断和对受影响患者进行适当的管理。
