Rare Disease Library

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

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

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Autosomal recessive MSMD due to a complete deficiency

Combined immunodeficiency due to IL21R deficiency

CID due to IL21R deficiency · Combined immunodeficiency due to interleukin 21 receptor deficiency

Combined immunodeficiency due to Moesin deficiency

MSN-related combined immunodeficiency · CID due to Moesin deficiency

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Immunodeficiency due to a late component of complement deficiency

Immunodeficiency due to C5 to C9 component complement deficiency · Terminal complement pathway deficiency

Immunodeficiency due to CD25 deficiency

Interleukin-2 receptor alpha chain deficiency

Immunodeficiency with factor I anomaly

Complete factor I deficiency

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

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 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

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

OBSOLETE: X-linked MSMD due to CYBB deficiency

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

OBSOLETE: X-linked MSMD due to NEMO deficiency · OBSOLETE: X-linked MSMD due to IKBKG deficiency

Severe combined immunodeficiency due to complete RAG1/2 deficiency

SCID due to complete RAG1/2 deficiency

Severe combined immunodeficiency due to CORO1A deficiency

SCID due to CORO1A deficiency · SCID due to coronin-1A deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency

Severe MSMD due to complete IFNG deficiency · Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency

Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency · Severe MSMD due to complete IRF1 deficiency

Sterile multifocal osteomyelitis with periostitis and pustulosis

Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · DIRA