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X-linked lymphoproliferative disease is a rare inherited immune deficiency, mainly in boys, caused by a fault in the SH2D1A gene, in which the glandular fever virus can trigger a life-threatening overreaction of the immune system or lymphoma. A stem cell transplant is the treatment that changes its course.
X-linked; SH2D1A encodes SAP, the SLAM-associated protein, identified in 1998. Epstein-Barr virus infection drives haemophagocytic lymphohistiocytosis, hypogammaglobulinaemia and lymphomas; most present before age 10, though adult onset and affected females are reported (Frontiers in Immunology 2025 review).
B-cell lymphomas are treated with standard chemotherapy followed by expedited haematopoietic stem cell transplantation; haemophagocytic lymphohistiocytosis with the HLH-1994 regimen, with ruxolitinib reported as salvage or bridge; immunoglobulin replacement for hypogammaglobulinaemia. In a Japanese cohort of 33 patients, 21 of those not transplanted died of the disease and its complications, while 11 of 12 transplanted survived; early transplantation for asymptomatic patients is suggested and gene therapies are in development.
Showing the technology this term belongs to: Allogeneic stem cell transplantation.
Shares Allogeneic stem cell transplantation, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Allogeneic stem cell transplantation, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Allogeneic stem cell transplantation, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Allogeneic stem cell transplantation, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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