immunodeficiency 38

Term ID

DOID:0111934

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. (2)

References

• OMIM:616126
• ORDO:319563

Ontology

Human Disease   ( DOID:0111934 )