一名患有严重联合免疫缺陷病的儿童出现以CD8(+)淋巴细胞浸润为主的皮肤肉芽肿。
Cutaneous granulomas with predominantly CD8(+) lymphocytic infiltrate in a child with severe combined immunodeficiency.
作者信息
Gregoriou Stamatis, Trimis Georgios, Charissi Christina, Kalogeromitros Dimitris, Stefanaki Kalliopi, Rigopoulos Dimitris
机构信息
1st Department of Dermatology, University of Athens, Greece.
出版信息
J Cutan Med Surg. 2008 Sep-Oct;12(5):246-8. doi: 10.2310/7750.2008.07061.
BACKGROUND
Combined immunodeficiency disorders comprise a heterogeneous group of diseases characterized by both humoral and cell-mediated immunodeficiency. Cutaneous granulomas manifestations in children with combined immunodeficiency are rare.
OBJECTIVE
We report the case of a 6-year-old boy who presented with disseminated cutaneous granulomas and a history of multiple infections.
METHODS AND RESULTS
Laboratory evaluation revealed severe combined immunodeficiency, and deoxyribonucleic acid (DNA) analysis confirmed mutations on a gene of chromosome 19 that encodes an enzyme called Janus kinase 3 (Jak-3). Immunohistochemistry revealed expression of CD8(+) in the perivascular lymphocytic infiltrate
CONCLUSION
Disseminated granulomatous lesions in children with a history of frequent infections should prompt the clinician to initiate detailed immunocompetence evaluation as they might prove to be the first manifestation of immunologic impairment.
背景
联合免疫缺陷疾病是一组异质性疾病，其特征为体液免疫和细胞介导免疫均有缺陷。联合免疫缺陷患儿出现皮肤肉芽肿表现较为罕见。
目的
我们报告一例6岁男孩，其表现为播散性皮肤肉芽肿并有多次感染史。
方法与结果
实验室评估显示严重联合免疫缺陷，脱氧核糖核酸（DNA）分析证实19号染色体上一个编码名为 Janus激酶3（Jak-3）的酶的基因突变。免疫组化显示血管周围淋巴细胞浸润中有CD8(+)表达。
结论
有频繁感染史的儿童出现播散性肉芽肿性病变时，临床医生应启动详细的免疫功能评估，因为这些病变可能是免疫损害的首发表现。
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