X-linked lymphoproliferative syndrome 2

From Ganfyd

Jump to: navigation, search
Web Resources for X-linked lymphoproliferative syndrome 2


Genetic Databases
Relevant Clinical Literature
UK Guidance
Other Wikis
Wikipedia on X-linked lymphoproliferative syndrome 2 (Less technical, ? quality control)

The XIAP gene at Xq25 codes for the 497 amino acid E3 ubiquitin-protein ligase XIAP. This regulates or modulates caspases, apoptosis, inflammatory signaling, immunity, copper homeostasis, mitogenic kinase signaling, cell proliferation, and cell invasion and metastasis.

Actions include:

Mutation causes X-linked lymphoproliferative syndrome 2 (XLP2, OMIM:300635) with extreme susceptibility to infection with Epstein-Barr virus resulting in severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.

Personal tools