On the second day of admission, a hemizygous variant in the SH2D1A gene was detected in the family’s whole exome sequence (Supplementary Figure S1A, NM: 002351.5: exon2: c.163C>T, p.R55*, inherited from the mother), which was pathogenic and associated with X-linked lymphoproliferative syndrome type 1 (OMIM:308240). This evidence concerns the gene SH2D1A and X-linked lymphoproliferative syndrome.