在这里，我们描述了由BCL11B基因突变引起的面部畸形和免疫疾病的13岁女性患者的回顾性分析。患者在体检时表现出一张特殊的脸(细细的眉毛，小下颌骨,和加宽的眼睛距离)，语言和运动发育延迟。补充检查显示CD8+扩张，不存在2型先天淋巴样细胞，IgG增加和T细胞分布改变。遗传测试显示BCL11B基因外显子4的杂合移码变异；c.1887_c.1893delCGGCGGG（p。Gly630Glyfs*91）。最后,BCL11B基因突变可能导致神经和免疫系统的异常发育，因此,有必要在具有下述临床和免疫学表型的患者中考虑该综合征。
Herein we described a retrospective analysis of a 13-year-old female patient with facial dysmorphia and immune disorder caused by BCL11B gene mutation. The patient upon physical examination presented a particular face (thin eyebrows, small mandible, and widened eye distance), delayed language and motor development. Supplementary examination showed expansion of CD8+, absence of type 2 Innate Lymphoid Cells, increased IgG and altered distribution of T cells. Genetic testing revealed a heterozygous frameshift variation in exon 4 of the BCL11B gene; c.1887_c.1893delCGGCGGG (p.Gly630Glyfs*91). Finally, a BCL11B gene mutation could lead to abnormal development of the nervous and immune systems, therefore, it is necessary to consider this syndrome in patients with the clinical and immunological phenotype described below.
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