J Clin Immunol. 2014 Jan;34(1):114-8. doi: 10.1007/s10875-013-9966-2.
We report a 45-year old female adult patient with terminal deletion of chromosome 11q resulting in clinical phenotype of late-onset combined immunodeficiency.
We describe the clinical phenotype and discuss the similarities between our patient and those with chromosome 22q11.2 deletion syndrome. Immunological evaluation included immunoglobulin levels, vaccine responses, number and function of T, NK and B cell subsets and comparative genomic hybridization test of blood and fibroblasts.
The patient suffered from recurrent pneumococcal pneumonia and genital and cutaneous condylomas. She had a history of learning difficulties, dysmorphic features, autoimmune thyroiditis, chronic thrombocytopenia and severe asthma. We found Paris-Trousseau type thrombocytopenia, B-, T- and NK-lymphopenia, T cell oligoclonality and IgG hypogammaglobulinemia with inability to respond to pneumococcal polysaccharide, tetanus and diphtheria vaccines. A terminal deletion of chromosome 11q compatible with partial Jacobsen syndrome was found.
This confirms Jacobsen syndrome as a chromosome deletion syndrome able to cause combined immunodeficiency.
我们报告了一例 45 岁女性成人患者，其染色体 11q 末端缺失导致迟发性联合免疫缺陷的临床表型。
我们描述了临床表型，并讨论了我们的患者与染色体 22q11.2 缺失综合征患者之间的相似之处。免疫评估包括免疫球蛋白水平、疫苗反应、T、NK 和 B 细胞亚群的数量和功能以及血液和成纤维细胞的比较基因组杂交试验。
患者患有复发性肺炎球菌肺炎、生殖器和皮肤尖锐湿疣。她有学习困难、畸形特征、自身免疫性甲状腺炎、慢性血小板减少症和严重哮喘的病史。我们发现巴黎-特鲁索氏血小板减少症、B、T 和 NK 淋巴细胞减少症、T 细胞寡克隆性和 IgG 低丙种球蛋白血症，无法对肺炎球菌多糖、破伤风和白喉疫苗产生反应。发现染色体 11q 末端缺失与部分雅各布森综合征相符。
这证实了雅各布森综合征是一种能够导致联合免疫缺陷的染色体缺失综合征。
