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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 929 | CD14 | CD14 molecule | |
| 933 | CD22 | CD22 molecule | |
| 952 | CD38 | CD38 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1056 | CEL | carboxyl ester lipase | |
| 2208 | FCER2 | Fc epsilon receptor II | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2271 | FH | fumarate hydratase | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3554 | IL1R1 | interleukin 1 receptor type 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02246 | Contactin-2 | |
| Q12918 | Killer cell lectin-like receptor subfamily B member 1 | |
| Q13241 | Natural killer cells antigen CD94 | |
| Q13478 | Interleukin-18 receptor 1 | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| Q8TB61 | Adenosine 3'-phospho 5'-phosphosulfate transporter 1 | |
| Q9NR71 | Neutral ceramidase |
