Human genes for immunodeficiency 38
Immunodeficiency 38 [DOID:0111934]
A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33.
Synonyms: immunodeficiency 38, DOID:0111934, autosomal recessive ISG15 deficiency, IMD38, immunodeficiency 38, mycobacteriosis, autosomal recessive ...