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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 ISG15 on chromosome 1p36.33.
https://pubmed.ncbi.nlm.nih.gov/22859821/, https://pubmed.ncbi.nlm.nih.gov/25307056/
Xrefs

OMIM:616126

ORDO:319563

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

is_a primary immunodeficiency disease

is_a autosomal recessive disease

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