Term Name: immunodeficiency 38
Synonyms: autosomal recessive ISG15 deficiency, IMD38, immunodeficiency 38 with basal ganglia calcification, immunodeficiency 38, mycobacteriosis, autosomal recessive, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
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 the ISG15 gene on chromosome 1p36.33.
Ontology: Human Disease [DOID:0111934]   ( DOID:0111934 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease