Term Name: | lymphoproliferative syndrome 2 |
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Synonyms: | CD27 deficiency, LPFS2 |
Definition: | A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. |
Ontology: | Human Disease [DOID:0060708] ( DOID:0060708 ) |