Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

6 matching diseasesClear search ×

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

STAT1 deficiency · Predisposition to severe viral infection due to STAT1 deficiency

ORPHA:391311

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

ORPHA:275517

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

ORPHA:319595

Predisposition to invasive fungal disease due to CARD9 deficiency

Invasive candidiasis-deep dermatophytosis syndrome

ORPHA:457088

Primary immunodeficiency with predisposition to severe viral infection

ORPHA:431156

Susceptibility to infection due to TYK2 deficiency

ORPHA:331226