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Human Disease
lymphoproliferative syndrome 2
- Term ID
- DOID:0060708
- Synonyms
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- 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. (2)
- References
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- ICD10CM:D47.9
- OMIM:615122
- Ontology
- Human Disease ( DOID:0060708 )
- is a type of
-
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