Rare Disease Library

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

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

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

OBSOLETE: X-linked MSMD due to CYBB deficiency

Severe combined immunodeficiency due to complete RAG1/2 deficiency

SCID due to complete RAG1/2 deficiency

Severe hereditary thrombophilia due to congenital protein C deficiency

Autosomal recessive thrombophilia due to congenital protein C deficiency · Autosomal recessive thrombophilia due to PC deficiency

Severe hereditary thrombophilia due to congenital protein S deficiency

Autosomal recessive thrombophilia due to congenital protein S 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

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y