Table 1

Molecular results of ADA2 gene analyses in DADA2 patients (D, dimerization; C, catalytic)

Group number Patient numbers Mutation position Mutation type The affected domain of ADA2 protein
111Exon 2: c.139G>AHomozygous missenseD
11Exon 2: c.139G>A/Exon 2: c.140G>TCompound heterozygous missenseD
12Exon 2 c.139G>AHeterozygous missenseD
21Exon 4: c.620T>C/Exon 9: c.1360G>CCompound heterozygous missenseC
22Exon 7: c.1072G>AHomozygous missenseC
21Exon 4: c.629delT/Exon 2: c.144_145insCompound heterozygousDel/ins_frameshift and non-senseC
21Exon 10: c.1445A>GHomozygous missenseC
21Exon 4: c.680-681delATHomozygous deletion-Frameshift non-senseC
21Exon 9: c.1367A>GHomozygous missenseC
22Exon 6: c.916C>THomozygous non-senseC
21Exon 9: c.1392_1393insGHomozygous missenseC