Table 1 List of 19 known genes and their defects associated with Mendelian susceptibility to mycobacterial infections

IL12B

AR

C

E−

IL12RB1

AR

C

E−

AR

C

E + 

IL12RB2

AR

C

E−

IL23R

AR

C

E + or E−

TYK2

AR

C

E + or E−

TYK2 P1104A

AR

P

E + 

RORC

AR

C

E−

IFNGR1

AR

C

E−

AR

C

E + 

AD

P

E +  +  + 

AR

P

E + of mutant protein

AR

P

E + 

IFNGR2

AR

C

E + 

AR

C

E−

AR

P

E + m

AR

P

E + wt

AD

P

E + 

IFNG

AR

C

E−

JAK1

AR

P

E−

STAT1

AD

P

E + P−

AD

P

E + B−

AD

P

E + P−B−

AR

C

E−

AR

P

E + 

IRF8

AD

P

E + 

AR

C

E + or E−

SPPL2A

AR

C

E + or E−

CYBB

XR

P

E +

IKBKG (NEMO)

XR

P

E +

ISG15

AR

C

E−

AR

P

E +

USP18

AR

P

E + 

ZNFX1

AR

C

E + or E−

TBX21

AR

C

E +