Department of Immunology, Salford Royal Hospital NHS Trust, Manchester, UK.
J Clin Pathol. 2010 Feb;63(2):151-5. doi: 10.1136/jcp.2009.072074.
Although poor thymic function leading to viral and fungal infections can be a feature of chromosome 22q11.2 deletion syndrome, most patients have relatively normal immunity. The aim of this study was to investigate which clinical and laboratory parameters best predict the likelihood of serious or recurrent infections in patients with this syndrome.
Clinical and laboratory parameters from 64 patients with 22q11.2 deletion syndrome referred to two immunology centres in the north of England were studied retrospectively.
31 (48%) patients had no problems with infection, 21 (33%) had bacterial infections, and 12 (19%) had recurrent or persistent thrush and/or viral enteritis and bronchiolitis, the latter suggestive of a significant T cell immunodeficiency. Patients with a history of thrush/viral infections, but not those with bacterial infections, had significantly lower CD4+ and CD8+ T lymphocyte numbers (relative risk (95% CI) 0.3 (0.1 to 0.8)) and phytohaemagglutinin mitogen responses (0.4 (0.2 to 0.8)) adjusted for age at testing. Hypoparathyroidism was associated with low T lymphocyte numbers and function (p<0.05) as well as an increased risk of thrush/viral infections (p<0.0001) after adjusting for age at testing.
22q11.2 syndrome patients with hypoparathyroidism are more likely to have a clinically significant T cell immunodeficiency and lower laboratory parameters of T cell function, with a higher risk of thrush and viral bronchiolitis and enteritis. Measurement of absolute CD3 count is a simple and accurate predictor of fungal/viral infection risk, with phytohaemagglutinin mitogen responses providing little or no further value in most patients.
虽然 22q11.2 缺失综合征可导致胸腺功能不良，从而引发病毒和真菌感染，但大多数患者的免疫功能相对正常。本研究旨在探讨哪些临床和实验室参数最能预测此类患者发生严重或复发性感染的可能性。
回顾性研究了转诊至英格兰北部两家免疫中心的 64 例 22q11.2 缺失综合征患者的临床和实验室参数。
31 例（48%）患者无感染问题，21 例（33%）有细菌感染，12 例（19%）有反复或持续性鹅口疮和/或病毒性肠胃炎，后者提示存在明显的 T 细胞免疫缺陷。有鹅口疮/病毒感染史的患者（但无细菌感染史的患者）的 CD4+和 CD8+T 淋巴细胞数量明显较低（校正年龄后的相对风险（95%CI）为 0.3（0.1 至 0.8））和植物血凝素丝裂原反应（0.4（0.2 至 0.8））。甲状旁腺功能减退症与 T 淋巴细胞数量和功能降低（p<0.05）以及校正年龄后的鹅口疮/病毒感染风险增加（p<0.0001）相关。
校正年龄后，伴有甲状旁腺功能减退症的 22q11.2 综合征患者更有可能出现临床显著的 T 细胞免疫缺陷，且 T 细胞功能的实验室参数更低，鹅口疮和病毒性细支气管炎及肠胃炎的风险更高。绝对 CD3 计数的测量是真菌感染/病毒感染风险的简单且准确的预测指标，植物血凝素丝裂原反应在大多数患者中几乎没有或没有提供更多价值。
