At the age of 32 months the genetic findings revealed a DNA ligase IV deficiency, associated with SCID, with a compound heterozygous mutation in exon two of DNA LIG4 gene ((NM_002312) exon 2: c.613delT p.S205LfsX29 heterozygous and exon 2: c.845A > T p.H282L heterozygous). This evidence concerns the gene LIG4 and severe combined immunodeficiency.