| Metadata | |
|---|---|
| ID | DOID:0111934 |
| Name | immunodeficiency 38 |
| 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. https://pubmed.ncbi.nlm.nih.gov/22859821/, https://pubmed.ncbi.nlm.nih.gov/25307056/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive ISG15 deficiency [EXACT] IMD38 [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] |
| Parent Relationships |