Although no possible disease-causing variants were detected within coding regions of candidate genes responsible for severe combined immunodeficiency, such as DCLRE1C, IL2RG, RAG1, RAG2 and RMRP, in the TPS panel, two single-base substitutions, namely NM_003183.6:c.1699T>C (p.Cys567Arg or p.C567R) and c.1799G>A (p.Cys600Tyr or p.C600Y), in exons 14 and 15 of ADAM17, respectively, were detected. The gene discussed is IL2RG; the disease is immunodeficiency disease.