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GTR Home > Conditions/Phenotypes > Lymphoproliferative syndrome 2

Lymphoproliferative syndrome 2

Synonyms
CD27 DEFICIENCY; Combined immunodeficiency due to CD27 deficiency

Summary

Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013). For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). [from OMIM]

Available tests

31 tests are in the database for this condition.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: S152, S152. LPFS2, T14, TNFRSF7, Tp55, CD27
    Summary: CD27 molecule

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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