Rare Disease Library

Mendelian susceptibility to mycobacterial diseases

Idiopathic infection caused by BCG or atypical mycobacteria · MSMD

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

MSMD due to complete IFNgammaR1 deficiency · MSMD due to complete interferon gamma receptor 1 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

MSMD due to complete IFNgammaR2 deficiency · MSMD due to complete interferon gamma receptor 2 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

MSMD due to complete IL12B deficiency · MSMD due to complete interleukin 12B deficiency

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

MSMD due to complete IL12RB1 deficiency · MSMD due to complete interleukin 12 receptor beta 1 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

MSMD due to complete ISG15 deficiency

Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

MSMD due to complete RORgamma receptor defiency · Primary immunodeficiency due to RORC mutation

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

MSMD due to partial IRF8 deficiency · MSMD due to partial interferon regulatory factor 8 deficiency

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

MSMD due to partial STAT1 deficiency · MSMD due to partial signal transducer and activator of transcription 1 deficiency

Autosomal dominant myosin storage myopathy

MSMA

Autosomal recessive myosin storage myopathy

MSMB

X-linked mendelian susceptibility to mycobacterial diseases

X-linked MSMD