After no candidate genes were identified by ES in a patient with lymphoproliferative syndrome, X-linked, 1 (XLP1; OMIM: #308240), an extended ES analysis of the SH2D1A identified breakpoints in exon 2 and intron 2 which were further validated to be a CGR including two deletions and one inversion [44] (Table 1). The gene discussed is SH2D1A; the disease is lymphoproliferative syndrome.