immunodeficiency 123

Term ID

DOID:0061089

Synonyms

• immunodeficiency 123 with HPV-related verrucosis

Definition

A T cell deficiency that is characterized by the onset of HPV-related common cutaneous warts in the first decade of life and that has_material_basis_in homozygous mutation in the CD28 gene on chromosome 2q33. https://pubmed.ncbi.nlm.nih.gov/34214472/

References

• MIM:620901

Ontology

Human Disease   ( DOID:0061089 )