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Metadata
ID DOID:0061071
Name immunodeficiency 101
Definition A primary immunodeficiency disease that is characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV and that has_material_basis_in heterozygous mutation in the POLR3F gene on chromosome 20p11.
https://pubmed.ncbi.nlm.nih.gov/30211253/
Xrefs

MIM:619872

Synonyms

immunodeficiency 101 varicella zoster virus-specific [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a primary immunodeficiency disease

Subclass Logical Relationships

existence starts during some Childhood onset

has material basis in some autosomal dominant inheritance

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