Term Name: | immunodeficiency 123 |
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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. |
Ontology: | Human Disease [DOID:0061089] ( DOID:0061089 ) |