Journals / Turkish Journal of Hematology / 2018 / Cilt: 35 - Sayı: 3

First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey

Pages
200–202
DOI
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KESİCİ, S., KESKİN, E. Y., KASAPKARA, Ç. S., SEKİNE, T., AKÇABOY, M., FETTAH, A., BRYCESON, Y. T., C.C.CHİANG, S. (2018). First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey. Turkish Journal of Hematology, Cilt: 35 - Sayı: 3, 200–202. https://ajindex.com/articles/412393

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References (7)

  1. Sumegi J, Huang D, Lanyi A, Davis JD, Seemayer TA, Maeda A, Klein G, Seri M, Wakiguchi H, Purtilo DT, Gross TG. Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood 2000;96:3118-3125.
  2. Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis JR, Webster D, Harris A, Lenoir G, de St Basile G, Jones A, Behloradsky BH, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet 1988;20:129-135.
  3. Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L,, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006;444:110-114.
  4. Lappalainen I, Giliani S, Franceschini R, Bonnefoy JY, Duckett C, Notarangelo LD, Vihinen M. Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. Biochem Biophys Res Commun 2000;269:124- 130. Lanzkowsky P, Lipton JM, Fish JD. Lanzkowsky’s Manual of Pediatric Hematology and Oncology, 6th ed. New York, Academic Press, 2016.
  5. Patiroglu T, Akar HH, Unal E, Ozdemir MA, Karakukcu M. Hematopoietic stem cell transplant for primary immunodeficiency diseases: a single-center experience. Exp Clin Transplant 2017;15:337-343.
  6. Milone MC, Tsai DE, Hodinka RL, Silverman LB, Malbran A, Wasik MA, Nichols KE. Treatment of primary Epstein-Barr virus infection in patients with X-linked lymphoproliferative disease using B-cell-directed therapy. Blood 2005;105:994-996.
  7. Lee TL, Law HKW, Chan GCF, Ha SY, Ho MHK, Chan KW, Lau YL. Successful treatment of X-linked lymphoproliferative disease (XLP) with anti-CD20 monoclonal antibody (rituximab) followed by mismatched unrelated cord blood transplantation. Hong Kong J Paediatr 2006;11:210-214.