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lymphoproliferative syndrome 2
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease lymphoproliferative syndrome
External Links
- Disease Ontology
- DOID:0060708
- Mondo Disease Ontology
- OMIM
