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lymphoproliferative syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.
Uniprot Description An autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impaired T-cell-dependent B-cell responses and T-cell dysfunction. The phenotype is highly variable, ranging 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.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0014054:  lymphoproliferative syndrome 2
UMLS:C3554540: