A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T-NK-B+)

作者：Tan Weiping; Yu Sifei; Lei Jiaying; Wu Baojing; Wu Changyou^*

来源：Immunogenetics, 2015, 67(11-12): 629-639.

DOI：10.1007/s00251-015-0871-0

• B cells
• IL2RG gene
• IL7R gene
• T cells
• X-SCID

X-linked severe combined immunodeficiency (X-SCID) is one of the most common causes of primary immunodeficiencies in humans. A 4-month-old boy with recurrent pulmonary infection had decreased numbers of CD3(+), CD4(+), CD8(+) T lymphocytes, and NK cells and increased levels of CD19(+) B cells but no memory B cells or plasma cells. The production of cytokines by T cells and the activation of T and B cells were either absent or inefficient. While B cell levels were high, they were all IgM-positive, and the secretion of all Ig isotypes by activated B cells in vitro was defective. Genomic DNA sequencing revealed that the patient had missense mutations in the IL2RG (exon 5, 718 T > C) and IL7R genes (exon 2, 197 T > C; exon 4, 412G > A). Although the patient's father and one of his sisters have the same missense homozygous mutations of the IL7R gene, neither of them exhibited the immunological phenotype of SCID. The results indicate that the IL2RG gene mutation or a combination of the IL7R and IL2RG mutations in the sick boy had resulted in T-NK-B+ SCID.

• 出版日期2015-11
• 单位中山大学