A survey of patients diagnosed with X-linked lymphoproliferation disease (XLP) in the Czech Republic and Slovakia
Authors:
E. Mejstříková 1; T. Freiberger 2,3; A. Šedivá 4; P. Čižnár 5; P. Švec 6; O. Hrušák 1; D. Sumerauer 1; E. Kabíčková 1; P. Keslová 1; R. Formánková 1; M. Suková 1; P. Sedláček 1; J. Starý 1; A. Janda 7
Authors‘ workplace:
Klinika dětské hematologie a onkologie UK 2. LF a FN Motol, Praha přednosta prof. MUDr. J. Starý, DrSc.
1; Ústav klinické imunologie a alergologie, Fakultní nemocnice U sv. Anny, Lékařská fakulta Masarykovy univerzity, Brno přednosta prof. MUDr. J. Litzman, CSc.
2; Genetická laboratoř, Centrum kardiovaskulární a transplantační chirurgie, Brno ředitel doc. MUDr. P. Němec, CSc.
3; Ústav imunologie UK 2. LF a FN Motol, Praha přednostka prof. MUDr. J. Bartůňková, DrSc., MBA
4; 1. Detská klinika Lekárskej fakulty Univerzity Komenského a DFNsP, Bratislava prednostka doc. MUDr. O. Červeňová, CSc.
5; Klinika detskej hematológie a onkológie Lekárskej fakulty Univerzity Komenského a DFNsP, Bratislava prednostka doc. MUDr. E. Kaiserová, CSc.
6; Centre of Chronic Immunodeficiency (CCI), University Medical Centre and University of Freiburg, Freiburg im Breisgau, Německo
7
Published in:
Čes-slov Pediat 2013; 68 (2): 67-77.
Category:
Original Papers
Overview
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).
In the Czech Republic there have been so far diagnosed 7 patients 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.
Key words:
X-linked lymphoproliferative disease, primary immunodeficiency, haematopoietic stem cell transplantation, SAP, XIAP
Sources
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2013 Issue 2
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