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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

MONDO:0014054

OMIM

615122

Related Genes

Displaying entries **31 - 32** of 32 in total

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Gene ID	Gene Symbol	Description	Source
83666	PARP9	poly(ADP-ribose) polymerase family member 9	DisGeNET
347734	SLC35B2	solute carrier family 35 member B2	DisGeNET

Related Glycoprotein

Displaying entries **1 - 10** of 27 in total

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UniProt ID	Protein Name	Source
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	DisGeNET
O75015	Low affinity immunoglobulin gamma Fc region receptor III-B	DisGeNET
O95822	Malonyl-CoA decarboxylase, mitochondrial	DisGeNET
P05362	Intercellular adhesion molecule 1	DisGeNET
P06734	Low affinity immunoglobulin epsilon Fc receptor	DisGeNET
P07954	Fumarate hydratase, mitochondrial	DisGeNET
P08571	Monocyte differentiation antigen CD14	DisGeNET
P09382	Galectin-1	DisGeNET
P13591	Neural cell adhesion molecule 1	DisGeNET
P14618	Pyruvate kinase PKM	DisGeNET