lymphoproliferative syndrome 2 (DOID:0060708)
Alliance: disease page
Synonyms: CD27 deficiency; LPFS2
Alt IDs: OMIM:615122, ICD10CM:D47.9
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.