Х-linked lymphoproliferative syndrome. FEDERAL CLINICAL RECOMMENDATIONS, 2020

Cover Page
Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Full Text

Restricted Access

About the authors

D N Balashov

Immunology Center for Pediatric Hematology, Oncology, Immunology named after Dmitry Rogachev


A A Roppelt

Immunology Center for Pediatric Hematology, Oncology, Immunology named after Dmitry Rogachev


A G Rumjantsev

Immunology Center for Pediatric Hematology, Oncology, Immunology named after Dmitry Rogachev


Anna U Shcherbina

Immunology Center for Pediatric Hematology, Oncology, Immunology named after Dmitry Rogachev

Email: shcher26@hotmail.com

References

  1. Роппельт АА, Юхачева ДВ. и соавт. Х-сцепленный лимфопролиферативный синдром 1-го и 2-го типов. Вопросы гематологии/онкологии и иммунологии в педиатрии. 2016;15(1):17-26
  2. Primary immunodeficiency diseases: A molecular and genetic approach. 3rd edition. Ochs HD, Smith CI, Puck JM, eds. Oxford University press. 2013.
  3. Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB 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.
  4. Marsh RA, Bleesing JJ, Filipovich AH. Using Flow Cytometry to Screen Patients for X-linked Lymphoproliferative Disease Due to SAP Deficiency and XIAP Deficiency. J Immunol Methods. 2010;362(1-2):1-9.
  5. Иммунология детского возраста. Практическое руководство по детским болезням. Под ред. А.Ю. Щербины и Е.Д. Пашанова. М.: Медпрактика-М. 2006.
  6. Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H 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.
  7. Purtilo DT, Grierson HL, Davis JR, Okano M. The X-linked lymphoproliferative disease: from autopsy toward cloning the gene 1975-1990. Pediatr Pathol. 1991;11(5):685-710.
  8. Tangye SG. XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP J Clin Immunol. 2014;34(7):772-779.
  9. Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F 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.
  10. Latour S, Aguilar C. XIAP deficiency syndrome in humans. Semin Cell Dev Biol. 2015;39:115-123.
  11. Bertrand MJ et al. Cellular inhibitors of apoptosis cIAP1 and cIAP2 are required for innate immunity signaling by the pattern recognition receptors NOD1 and NOD2. Immunity. 2009;30:789-801.
  12. Ammann S et al. A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency. Clinical and Experimental Immunology. 2014;176:394-400.
  13. Yabal M, Müller N et al. XIAP restricts TNF- and RIP3-de-pendent cell death and inflammasome activation. Cell Rep. 2014;7(6):1796-808.
  14. Ravell J, Chaigne-Delalande B, Lenardo M. X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect. Curr Opin Pediatr. 2014;26(6):713-719.
  15. Li FY et al. Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN). Eur J Hum Genet. 2015;23(6).
  16. Aguilar C, Latour S. X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome. J Clin Immunol. 2015;35(4):331-338.
  17. Woon ST et al. Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female. Scand J Immunol. 2008;68(2):153-158.
  18. Yang X et al. A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewedtowards the wild-type XIAP allele. J Clin Immunol. 2015;35(3):244-248.
  19. Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med. 2011;13(3):255-262.
  20. Aguilar C, Lenoir C, Lambert N, Begue B, Brousse N, Canioni D et al. Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. J Allergy Clin Immunol. 2014;134(5):1131-1141.e9.
  21. Seemayer TA, Gross TG, Egeler RM, Pirruccello SJ, Davis JR, Kelly CM et al. X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediatr Res. 1995;38(4):471-478.
  22. Щербина АЮ. Маски первичных иммунодефицитных состояний: проблемы диагностики и терапии. Российский журнал детской гематологии и онкологии (РЖДГиО). 2016;3(1):52-58.
  23. Rivat C, Booth C et al. SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease. Blood. 2013;121(7):1073-1076.
  24. Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, Soulas P et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006;444(7115):110-114.
  25. Qi H, Cannons JL, Klauschen F, Schwartzberg PL, Germain RN. SAP-controlled T-B cell interactions underlie germinal centre formation. Nature. 2008;455(7214):764-769.
  26. Кузьменко НБ, Варламова ТВ, Мерсиянова ИВ, Райкина ЕВ, Бобрынина ВО, Щербина АЮ. Молекулярно-генетическая диагностика первичных иммунодефицитных состояний. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016;15(1):10-16.
  27. Mischler M, Fleming GM, Shanley TP, Madden L, Levine J, Castle V et al. Epstein-Barr virus-induced hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease: a mimicker of sepsis in the pediatric intensive care unit. Pediatrics. 2007;119(5):1212-1218.
  28. Rezaei N, Mahmoudi E, Aghamohammadi A, Das R, Nichols KE. X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma. Br J Haematol. 2010;152(1):13-30.
  29. Chellapandian D, Das R, Zelley K, Wiener SJ, Zhao H, Teachey DT et al. Treatment of Epstein-Barr virus-induced haemophagocytic lymphohistiocytosis with rituximab-con-taining chemo-immunotherapeutic regimens. Br J Haematol. 2013;162(3):376-382.
  30. Balashov D, Shcherbina A, Maschan M et al. Single-Center Experience of Unrelated and Haploidentical Stem Cell Transplantation with TCRaß and CD19 Depletion in Children with Primary Immunodeficiency Syndromes. Biol Blood Marrow Transplant. 2015;21(11):1955-1962.
  31. Booth C, Gaspar HB, Thrasher AJ. Treating Immunodeficiency through HSC Gene Therapy. Trends Mol Med. 2016;22(4):317-327.

Statistics

Views

Abstract - 28

PDF (Russian) - 0

PlumX

Article Metrics

Metrics Loading ...

Dimensions


Copyright (c) 2019 Russian Allergological Journal

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies