Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Pediatrics. 2013 Aug;132(2):e484-9. doi: 10.1542/peds.2012-3815. Epub 2013 Jul 1.
Cornelia de Lange syndrome (CdLS) is a genetic syndrome with multisystem abnormalities. Infections are a significant cause of morbidity and mortality. The goals of our study were to identify the frequency and types of infections in CdLS and to determine if underlying immunodeficiency contributes to the clinical spectrum of this syndrome.
We assessed infectious histories in 45 patients with CdLS and evaluated conventional immunologic screening tests in 27 patients. Among these 27 subjects, additional phenotypic enumeration of T-cell subsets, expression of activation markers in T cells, and production of cytokines in response to T-cell stimulants were studied in 12 CdLS subjects compared with 12 normal case control subjects.
Recurrent infections were reported at high frequency in CdLS patients and included chronic ear infections (53%), chronic viral respiratory infections (46%), pneumonia (42%), sinus infections (33%), oral candidiasis (13%), sepsis (6%), and bacterial skin infections (4%). Full immune evaluation in 27 subjects led to identification of 9 cases of antibody deficiency syndrome in patients with severe forms of CdLS. Subjects with CdLS had decreased percentages of T regulatory cells and T follicular helper cells compared with normal control subjects (P < .05).
This study identified for the first time a high frequency of antibody deficiency in CdLS subjects, indicating a critical need for screening and management of immunodeficiency in CdLS patients with a history of well-documented severe or recurrent infections. Furthermore, our results indicate that impaired T-cell populations may be associated with antibody deficiency in CdLS.
Cornelia de Lange 综合征（CdLS）是一种具有多种系统异常的遗传综合征。感染是发病率和死亡率的重要原因。我们的研究目的是确定 CdLS 患者感染的频率和类型，并确定潜在的免疫缺陷是否导致该综合征的临床表现。
我们评估了 45 例 CdLS 患者的感染史，并对 27 例患者进行了常规免疫筛选测试。在这 27 名受试者中，与 12 名正常对照受试者相比，我们对 12 名 CdLS 受试者进行了 T 细胞亚群的表型计数、T 细胞激活标志物的表达以及对 T 细胞刺激物产生细胞因子的研究。
CdLS 患者报告了高频的复发性感染，包括慢性耳部感染（53%）、慢性病毒性呼吸道感染（46%）、肺炎（42%）、窦感染（33%）、口腔念珠菌病（13%）、败血症（6%）和细菌性皮肤感染（4%）。对 27 例患者进行全面免疫评估后，发现 9 例严重型 CdLS 患者存在抗体缺陷综合征。与正常对照组相比，CdLS 患者的 T 调节细胞和滤泡辅助 T 细胞比例下降（P<0.05）。
本研究首次在 CdLS 患者中发现抗体缺陷的高频率，这表明对于有明确记录的严重或复发性感染史的 CdLS 患者，有必要进行免疫缺陷的筛查和管理。此外，我们的结果表明，T 细胞群体受损可能与 CdLS 中的抗体缺陷有关。
