CIITA 中的新型变异导致 II 型裸淋巴细胞综合征：一例报告。
Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report.
机构信息
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.
Department of Nephrology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.
出版信息
Asian Pac J Allergy Immunol. 2024 Mar;42(1):81-85. doi: 10.12932/AP-020720-0898.
BACKGROUND
Type II bare lymphocyte syndrome (BLS II) group A is a rare primary severe immunodeficiency caused by defects in CIITA, one of genes encoding transcriptional regulatory factors for MHC II molecules.
OBJECTIVE
To report a Chinese boy with mutation of CIITA.
METHODS
By reviewing the clinical data of the child and performing a literature search of BLS II group A.
RESULTS
The patient was presented with persistent pneumonia, chronic diarrhea, urinary tract infection, rash, failure to thrive and special facial characteristics. The patient carried novel mutations in CIITA (c.1243delC, p.R415fs*2 and c.3226C>T, p.R1076W) which were identified by next-generation sequencing and confirmed by Sanger sequencing.
CONCLUSIONS
This study found novel mutations in the CIITA gene of BLS II, which complemented the mutation spectrum and contributed to the diagnosis, treatment, genetic counseling and prenatal diagnosis of BLS II.
背景
Ⅱ型裸淋巴细胞综合征（BLS II）A 组是一种由 MHC II 分子转录调节因子基因 CIITA 缺陷引起的罕见原发性严重免疫缺陷病。
目的
报道 1 例 CIITA 基因突变致 BLS II A 型患儿。
方法
通过对患儿的临床资料进行总结，并结合文献复习 BLS II A 组。
结果
患儿表现为持续肺炎、慢性腹泻、尿路感染、皮疹、生长发育迟缓及特殊面容。该患儿携带 CIITA 基因的新型突变（c.1243delC，p.R415fs*2 和 c.3226C>T，p.R1076W），通过下一代测序和 Sanger 测序证实了这些突变。
结论
本研究发现了 BLS II 中 CIITA 基因的新型突变，补充了该疾病的突变谱，有助于 BLS II 的诊断、治疗、遗传咨询和产前诊断。
Zotero 插件