immunodeficiency 120

Term ID

DOID:0061086

Synonyms

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/

References

• MIM:620836

Ontology

Human Disease   ( DOID:0061086 )