According to clinical phenotype of immunodeficiency disorders and the disease genetic models, compound heterozygous variants (c.1914G>T and c.1048C>T, NM_000215) detected by clinical exome sequencing were suspected to be disease-associated variants in the proband in the JAK3 gene, a known gene that can result in the autosomal recessive disease severe combined immunodeficiency, T-cell-negative, B-cell-positive, and NK-cell-negative (OMIM: 600173). This evidence concerns the gene JAK3 and immunodeficiency disease.