|Definition||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.
autosomal recessive ISG15 deficiency [EXACT]
immunodeficiency 38 with basal ganglia calcification [EXACT]
immunodeficiency 38, mycobacteriosis, autosomal recessive [EXACT]
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [EXACT]