For instance, although only c.924+1G > A was reported in ClinVar, other mutations at the same splice site have been observed in several patients with typical X-SCID, including c.924+1G > T, c.924+2T > G, and c.924+5G > C.4Northern blot and cell surface immunofluorescence analysis revealed trace amounts of IL2RG mRNA and γC expression in patients with variations 924+1G > T and 924+1G > A. However, probably due to the lack of B-cell lines from patients, mRNA and γC expression detection were not performed for the other two variations (c.924+2T > G and c.924+5G > C). This evidence concerns the gene IL2RG and severe combined immunodeficiency.