Stable low-level donor-cell engraftment in a patient with X-linked lymphoproliferative disease following matched unrelated allo-SCT.

摘要

X-linked lymphoproliferative disease (XLP), a rare inherited immunodeficiency involving primarily T- and natural killer (NK) cells is characterised by fulminant infectious mononucleosis, dysgammaglobulinaemia, lymphoproliferative disorders and malignant lymphoma. The gene responsible for XLP has been cloned and named SLAM-associated protein (SAP) or SH2D1A. SAP regulates several critical aspects of immune function, including lymphocyte activation and proliferation, cytotoxicity, cytokine secretion, adhesion and induction of humoral immune responses. XLP patients have inactivating mutations in the SH2 domain of SAP and this results in a significantly increased risk of malignant and non-malignant lymphoproliferative disorders. HSCT is the only curative therapeutic intervention in these patients.