immunodeficiency 122

Term ID

DOID:0061088

Synonyms

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/

References

• MIM:620869

Ontology

Human Disease   ( DOID:0061088 )