Rare Disease Library

Recurrent infections associated with rare immunoglobulin isotypes deficiency

IgG subclass deficiency with IgA subclass deficiency · Isolated IgG subclass deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Immunodeficiency by defective expression of MHC class I

MHC class I deficiency · Bare lymphocyte syndrome type 1

Immunodeficiency by defective expression of MHC class II

MHC class II deficiency · Bare lymphocyte syndrome type 2

Immunodeficiency due to selective anti-polysaccharide antibody deficiency

Specific anti-polysaccharide antibody deficiency · Selective anti-polysaccharide antibody deficiency

OBSOLETE: TACI-related selective deficiency of IgA

Selective IgM deficiency

Selective immunoglobulin M deficiency