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X-linked lymphoproliferative syndrome 2
Summary
- Synonym
-
- XIAP deficiency
- XLP2
- Definition
- A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25.
- Super Class
- X-linked recessive disease lymphoproliferative syndrome
External Links
- Disease Ontology
- DOID:0060706
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 248 | ALPI | alkaline phosphatase, intestinal | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 912 | CD1D | CD1d molecule | |
| 1800 | DPEP1 | dipeptidase 1 | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 5335 | PLCG1 | phospholipase C gamma 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase |
Related Glycoprotein
