Roa-Bautista Adriel, López-Duarte Mónica, Paz-Gandiaga Nerea, San Segundo Arribas David, Ocejo-Vinyals J Gonzalo
Division of Immunology, Marques de Valdecilla University Hospital, University of Cantabria, IDIVAL, Santander, Cantabria, Spain.
Division of Hematology, Marques de Valdecilla University Hospital, University of Cantabria, IDIVAL, Santander, Cantabria, Spain.
EJIFCC. 2022 Dec 12;33(4):325-333. eCollection 2022 Dec.
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.
在此，我们描述了对一名13岁女性患者的回顾性分析，该患者因BCL11B基因突变导致面部畸形和免疫紊乱。患者体格检查时呈现出特殊面容（眉毛稀疏、下颌小、眼距增宽），语言和运动发育迟缓。辅助检查显示CD8 +细胞扩增、2型固有淋巴细胞缺失、IgG升高以及T细胞分布改变。基因检测发现BCL11B基因第4外显子存在杂合移码变异；c.1887_c.1893delCGGCGGG（p.Gly630Glyfs*91）。最后，BCL11B基因突变可导致神经和免疫系统发育异常，因此，对于具有以下所述临床和免疫表型的患者有必要考虑这种综合征。
