Department of Pediatrics, Division of Allergy and Immunology, SBU Izmir Dr Behcet Uz Children's Education and Research Hospital, Izmir, Turkey;
Department of Pediatrics, Division of Allergy and Immunology, SBU Izmir Dr Behcet Uz Children's Education and Research Hospital, Izmir, Turkey.
Allergol Immunopathol (Madr). 2021 Jan 2;49(1):95-100. doi: 10.15586/aei.v49i1.24. eCollection 2021.
The purpose of this study was to evaluate patients diagnosed with 22q11.2 deletion syndrome and determine the clues directing to diagnosis and evaluation of immunological findings for excellent management of the disease.
Thirty-three pediatric patients with 22q11.2 deletion syndrome diagnosed between 1998 and 2019 at Pediatric Immunology Division of Ege University Faculty of Medicine and SBU Izmir Dr Behcet Uz Children's Education and Research Hospital were evaluated.
This study includes the largest case series reported from Turkey. Congenital cardiac anomalies were the most common pathology associated with the syndrome (90.9%). Hypocalcemic symptoms were observed in 13 patients (40%). Twenty-two of the 33 (66.6%) patients were diagnosed before two years of age. Autoimmune diseases, dysmorphic facial findings, recurrent infections, growth retardation, and speech impairment were other clues for diagnosis in older patients. Clinical spectrum and immunological abnormalities of this syndrome are quite variable. All T-cell subset counts were less than 5th percentile below median by age in one patient (3%) and 10 patients had normal all T-cell subset counts (30.3%). Overall, 69.6% of the patients had normal IgG, IgA, and IgM levels and two patients had panhypogammaglobulinemia. Recurrent infections were revealed in 75.7% of the patients during follow-up.
Presence of cardiac anomaly is more helpful in the diagnosis, especially under two years of age. Patients with immunologically high or standard risk did not show any difference in terms of numbers and severity of infections and autoimmunity.
本研究旨在评估诊断为 22q11.2 缺失综合征的患者，并确定指导诊断和评估免疫发现的线索，以实现疾病的良好管理。
在 1998 年至 2019 年间，伊兹密尔贝赫切特儿童教育与研究医院儿科免疫科评估了 33 名患有 22q11.2 缺失综合征的儿科患者。
本研究包括来自土耳其的最大病例系列报告。先天性心脏畸形是与该综合征最常见的相关病理学（90.9%）。13 名患者（40%）出现低钙血症症状。33 名患者中的 22 名（66.6%）在两岁之前被诊断出患有该疾病。在年龄较大的患者中，自身免疫性疾病、畸形面部表现、反复感染、生长迟缓、言语障碍等也是诊断的其他线索。该综合征的临床谱和免疫异常变化很大。1 名患者（3%）的所有 T 细胞亚群计数均低于中位数的第 5 个百分位，10 名患者的所有 T 细胞亚群计数正常（30.3%）。总的来说，69.6%的患者 IgG、IgA 和 IgM 水平正常，2 名患者出现全低丙种球蛋白血症。在随访期间，75.7%的患者出现反复感染。
心脏异常的存在在诊断中更有帮助，特别是在两岁以下的患者。在感染和自身免疫方面，免疫高风险或标准风险的患者在数量和严重程度上没有差异。
