immunodeficiency 38 (DOID:0111934)
Alliance: disease page
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
Alt IDs: OMIM:616126, ORDO:319563
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.