Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report

Yi Zhang,¹ Yufei Xu,¹ Yanrong Qing,¹ Cong Han,¹ Jiayi Zhu,¹ Tingting Yu,¹ Lei Yin,² Ruen Yao,¹ Jian Wang¹

¹ 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
² Department of Nephrology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, People’s Republic of China

Abstract

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.
Conclusion: 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.
Key words: Type II bare lymphocyte syndrome, CIITA gene, novel mutations, MHC II, genetic disorder