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 place of work:
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 the journal:
Čes-slov Pediat 2013; 68 (2): 67-77.
Category:
Original Papers
Summary
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
Zdroje
1. Suková M, et al. Hemophagocytic lymphohistiocytosis syndrome. Hemofagocytující lymfohistiocytóza. Vnitř Lék 2010; 56 (Suppl 2): 2S157–2S169.
2. Filipovich AH, et al. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood 2010; 116 (18): 3398–3408.
3. Booth C, et al. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood 2011; 117 (1): 53–62.
4. Pachlopnik Schmid J, et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP-deficiency) versus type 2 (XLP-2/XIAP-deficiency). Blood 2011; 117 (5):1522–1529.
5. Sayos J, et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 1998; 395 (6701): 462–469.
6. Bolino A, et al. A new candidate region for the positional cloning of the XLP gene. Eur J Hum Genet 1998; 6 (5): 509–517.
7. Snow AL, et al. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. J Clin Invest 2009; 119 (10): 2976–2989.
8. Dong Z, Veillette A. How do SAP family deficiencies compromise immunity? Trends Immunol 2010 Aug; 31 (8): 295–302.
9. Strahm B, et al. Recurrent B-cell non-Hodgkin‘s lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection. Brit J Haematol 2000; 108 (2): 377–382.
10. Mejstrikova E, et al. Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases. Pediatrics 2012; 129 (2): e523–528.
11. Talaat KR, et al. Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection. Pediatr Blood Cancer 2009; 53 (6): 1120–1123.
12. Rougemont AL, et al. Chronic active gastritis in X-linked lymphoproliferative disease. Am J Surg Pathol 2008; 32 (2): 323–328.
13. Eckrich MJ, et al. A unique clinical presentation of X-linked lymphoproliferative syndrome with a novel mutation in SH2D1A and review of the literature. J Pediatr Hematol Oncol 2011; 33 (1): e39–42.
14. Purtilo DT. X-linked lymphoproliferative syndrome. An immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma. Arch Pathol Lab Med 1981; 105 (3): 119–121.
15. Rigaud S, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006; 444 (7115): 110–114.
16. Kashkar H. X-linked inhibitor of apoptosis: a chemoresistance factor or a hollow promise. Clin Cancer Res 2010; 16 (18): 4496–4502.
17. Flygare JA, et al. Discovery of a potent small-molecule antagonist of inhibitor of apoptosis (IAP) proteins and clinical candidate for the treatment of cancer (GDC-0152). J Med Chem 2012; 55 (9): 4101–4113.
18. Latour S. Natural killer T cells and X-linked lymphoproliferative syndrome. Current Opinion in Allergy and Clinical Immunology 2007; 7 (6): 510–514.
19. Milone MC, et al. Treatment of primary Epstein-Barr virus infection in patients with X-linked lymphoproliferative disease using B-cell-directed therapy. Blood 2005; 105 (3): 994–996.
20. Henter JI, et al. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood 2002; 100 (7): 2367–2373.
21. Henter JI, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007; 48 (2): 124–131.
22. Marsh RA, et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood 2010; 116 (7): 1079–1082.
23. Grosieux C, et al. Cutaneous and neurologic vasculitis disclosing EBV-selective immunodeficiency. Ann Dermatol Venereol 1996; 123 (6–7): 387–392.
24. Marsh RA, et al. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood 2012; 121 (6): 877–883.
Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2013 Číslo 2
- What Effect Can Be Expected from Limosilactobacillus reuteri in Mucositis and Peri-Implantitis?
- The Importance of Limosilactobacillus reuteri in Administration to Diabetics with Gingivitis
Najčítanejšie v tomto čísle
- Development of gut microbiota and risks of probiotics use in immunocompromised children
- A girl with karyotype 46, XY – case report
- Deficit of GATA-2 transcription factor: new immunodeficiency syndrome with broad phenotype. First patients diagnosed in the Czech Republic and review of the literature
- A survey of patients diagnosed with X-linked lymphoproliferation disease (XLP) in the Czech Republic and Slovakia