Term Name: | immunodeficiency 38 |
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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 ) |