染色体18q缺失综合征患者通常会出现低球蛋白血症。在这里,我们描述了两名染色体18q缺失综合征患者,他们表现为迟发性联合免疫缺陷(LOCID),以前没有报道过。患者1是一名29岁的男性,患有18q缺失综合征,他在Yamabiko医疗福利中心接受了26年的严重运动和智力残疾管理。虽然病人几乎没有感染,他在28岁时患上了肺孢子虫肺炎。患者2,一名48岁的女性,患有智力残疾和先天性畸形,被转诊到东京医学牙科大学医院,在她的胸部X线片上发现了异常的双侧肺部阴影。计算机断层扫描显示多发性淋巴结病和肺炎。腹股沟区淋巴结活检显示肉芽肿性淋巴结炎,染色体检查显示18q缺失。基于阵列的基因组杂交分析显示,患者1在18q21.32-q22.3缺失,患者2在18q21.33-qter缺失。两名患者的免疫状态检查显示全球蛋白血症,记忆B细胞和初始CD4+和/或CD8+细胞的数量减少,减少对羧基荧光素二乙酸酯琥珀酰亚胺酯T细胞分裂试验的反应,低水平的T细胞受体重组切除圈和Igκ缺失重组切除圈。因此,两名患者均被诊断为LOCID.尽管18q缺失综合征患者通常会出现体液免疫缺陷,这种疾病可以进一步复杂化的细胞介导的免疫缺陷,导致联合免疫缺陷。因此,18q缺失综合征患者应定期进行细胞/体液免疫能力检测.
Patients with chromosome 18q deletion syndrome generally experience hypogammaglobulinemia. Herein, we describe two patients with chromosome 18q deletion syndrome who presented with late-onset combined immune deficiency (LOCID), which has not been previously reported. Patient 1 was a 29-year-old male with 18q deletion syndrome, who was being managed for severe motor and intellectual disabilities at the Yamabiko Medical Welfare Center for 26 years. Although the patient had few infections, he developed Pneumocystis pneumonia at the age of 28. Patient 2, a 48-year-old female with intellectual disability and congenital malformations, was referred to Tokyo Medical and Dental University Hospital with abnormal bilateral lung shadows detected on her chest radiography. Computed tomography showed multiple lymphadenopathies and pneumonia. A lymph node biopsy of the inguinal region revealed granulomatous lymphadenitis, and a chromosomal examination revealed 18q deletion. Array-based genomic hybridization analysis revealed deletion at 18q21.32-q22.3 for patient 1 and at 18q21.33-qter for patient 2. Immune status work-up of the two patients revealed panhypogammaglobulinemia, decreased number of memory B cells and naïve CD4+ and/or CD8+ cells, reduced response on the carboxyfluorescein diacetate succinimidyl ester T-cell division test, and low levels of T-cell receptor recombination excision circles and Ig κ-deleting recombination excision circles. Consequently, both patients were diagnosed with LOCID. Although patients with 18q deletion syndrome generally experience humoral immunodeficiency, the disease can be further complicated by cell-mediated immunodeficiency, causing combined immunodeficiency. Therefore, patients with 18q deletion syndrome should be regularly tested for cellular/humoral immunocompetence.