Table 1

Genetic features of patients with STAT1 mutation and chronic mucocutaneous candidiasis diagnosed in Eastern and Central Europe

OriginFamily IDPatient ID (age, year)Mutation (c.DNA)ExonAmino acid changeAffected domainReference
CZAP1 (9*)c.537C>A†7N179KCCDThis report
CZBP2 (39)c.800C>T10A267VCCDThis report
CZBP3 (12)c.800C>T10A267VCCDThis report
HUCP4 (48)c.820C>T10R274WCCD11
HUCP5 (17)c.820C>T10R274WCCD11
RUDP6 (17)c.821G>A10R274QCCDThis report
RUEP7 (9)c.854A>G†10Q285RCCDThis report
UAFP8 (13)c.1154C>T14T385MDBDThis report
UAGP9 (22)c.494A>G7D165GCCD9
  • *Died at the age indicated.

  • †Novel mutation detected.

  • CCD, coiled-coil domain; CZ, Czech Republic; DBD, DNA-binding domain; HU, Hungary; RU, Russia; UA, Ukraine.