FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lymphoproliferative syndrome 2 ID (Ontology) DOID:0060708 (Human Disease)
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.
Also Known As "CD27 deficiency" ; "LPFS2"
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__lymphoproliferative syndrome__|
                                  lymphoproliferative syndrome 2
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Is a autosomal recessive disease
lymphoproliferative syndrome
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Synonyms
  • "CD27 deficiency" EXACT
    "LPFS2" EXACT OMO:0003012
Secondary IDs
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ICD10CM:D47.9
MIM:615122