To determine the genetic etiology of the patient’s immunodeficiency, a targeted gene panel approach was used to sequence 300 genes from her gDNA, which unveiled a novel homozygous missense variant in IL7RA. It was the substitution of guanine (G) by adenine (A) at position 379 (c.379G>A) in exon 3 of IL7RA, resulting in the change of valine (V) to isoleucine (I) at position 127 (p.V127I) of the protein (Figure 2B). This evidence concerns the gene IL7R and immunodeficiency disease.