DISEASES

Disease-gene associations mined from literature

Human genes for immunodeficiency 29

Immunodeficiency 29 [DOID:0111950]

A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3.

Synonyms:  immunodeficiency 29,  DOID:0111950,  IL12B deficiency,  IMD29,  immunodeficiency 29, mycobacteriosis ...