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Metadata
ID DOID:0061088
Name immunodeficiency 122
Definition A T cell, B cell, and NK cell deficiency that is characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin and that has_material_basis_in homozygous mutation in the POLD3 gene on chromosome 11q13.
https://pubmed.ncbi.nlm.nih.gov/38099988/
Xrefs

MIM:620869

Parent Relationships

is_a T cell, B cell, and NK cell deficiency

is_a autosomal recessive disease

Subclass Logical Relationships

existence starts during some Infantile onset

has material basis in some autosomal recessive inheritance

disease has location some respiratory tract and disease has location some (disease has location some zone of skin)

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