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Metadata
ID DOID:0061086
Name immunodeficiency 120
Definition A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13.
https://pubmed.ncbi.nlm.nih.gov/31629014/
Xrefs

MIM:620836

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some Childhood onset

has material basis in some autosomal recessive inheritance

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