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Metadata
ID DOID:0061093
Name immunodeficiency 128
Definition A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21.
https://pubmed.ncbi.nlm.nih.gov/33529166/
Xrefs

MIM:620983

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 or Neonatal onset)

has material basis in some autosomal recessive inheritance

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