Case Report

X-Linked Lymphoproliferative Syndrome and Common Variable Immunodeficiency May Not Be Differentiated by SH2D1A and XIAP/BIRC4 Genes Sequence Analysis

Table 2

Molecular analysis of SH2D1A and XIAP/BIRC4 genes in patient and family members.

PatientFatherMotherBrother

SH2D1ANNNN
XIAP/BIRC4Heterozygous 1978 G > A and 1996 T > A nucleotide substitution in 3′UTR region of exon7NHeterozygous 1978 G > A and 1996 T > A nucleotide substitution in 3′UTR region of exon 7N