Publication details
Přehled pacientů s diagnózou X-vázaného lymfoproliferativního onemocnění (XLP) diagnostikovaných v v České republice a na Slovensku
| Title in English | A survey of patients diagnosed with X-linked lymphoproliferation disease (XLP) in the Czech Republic and Slovakia |
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| Authors | |
| Year of publication | 2013 |
| Type | Article in Periodical |
| Magazine / Source | Čs. pediatrie |
| MU Faculty or unit | |
| Citation | |
| Field | Immunology |
| Keywords | X-linked lymphoproliferative disease; primary immunodeficiency; haematopoietic stem cell transplantation; SAP; XIAP |
| Attached files | |
| Description | X-lnked lymphoproliferative disease (XLP) is a rare primary immunodeficiency with incidence 1-3 patients m 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 immunoglobulm production), other signs are typical only for fie particular disease variant (e.g. malignant lymphoma in XI.P 1, hemorrhagic colitis in XLP-2). Aplastic anaemia, vascuhtis. chronic gastritis and skin ailment manifest rarely. The only causal therapy is haematopoietic stem cell transplantation (HSCT) In the Czech Republic there have been so far diagnosed 7 patients with XLP-1 and one patient with XLF-2. The patients were born m between 1961 ana 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 no: 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 pothophysiology, diagnostics and treatment of XLP. The course of the disease in the patients treated in the Czech Republic and Slovakia is presented. |
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