[Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene].

Objective: To explore the genetic etiology of a child with severe combined immunodeficiency (SCID).

Methods: Whole exome sequencing (WES) and copy number variation (CNV) analysis were carried out to screen potential variants in the proband. Suspected variants were validated by Sanger sequencing and qPCR.

Results: WES showed that the proband harbored compound heterozygous variants of the DCLRE1C gene, namely deletion of exons 1-3 and c.322G>A (p.Val108Met) in exon 5. The exon 1-3 deletion was derived from his father and was known to be pathogenic, while the c.322G>A was derived from his mother and was unreported previously.

Conclusion: The compound heterozygous variants of the DCLRE1C gene probably underlay the SCID in this child.