A survey of patients diagnosed with X-linked lymphoproliferation disease (XLP) in the Czech Republic and Slovakia.

Abstract

X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency with incidence 1–3 patients in a million boys. The condition is caused by a defect either in SH2D1A (XLP-1) or BIRC4 (XLP-2) gene. Most of the clinical symptoms overlap in both of the variants of the disease (e.g. fulminant infectious mononucleosis, haemophagocytic lymphohistiocytis – HLH, impairment of immunoglobulin production), other signs are typical only for the particular disease variant (e.g. malignant lymphoma in XLP-1, hemorrhagic colitis in XLP-2). Aplastic anaemia, vasculitis, chronic gastritis and skin ailment manifest rarely. The only causal therapy is haematopoietic stem cell transplantation (HSCT). So far there have been 7 patients diagnosed with XLP-1 and one patient with XLP-2. The patients were born in between 1961 and 2005. The disease manifested with median 4.5 years of age (range 19 months to 16 years). Two patients died due to fulminant HLH, one patient died during HSCT. One patient underwent successful HSCT, whereas other 4 living patients have not been transplanted. Median of age of the living patients is 22 years (range 17–27 years). In the text the authors summarize the current opinion on the pathophysiology, diagnostics and treatment of XLP. The course of the disease in the patients treated in the Czech Republic and Slovakia is presented.