Four more patients were diagnosed with XLP; two of them had XLP1 caused by different hemizygous changes in SH2D1A: a previously described pathogenic nonsense variant: c.163C > T, p.Arg55* and a novel intronic deletion: c.137 + 1_137 + 4delGTGA, classified as VUS according to ACMG with PM2 and PP3 rules. This evidence concerns the gene SH2D1A and X-linked lymphoproliferative disease.