KaydedilenlerDerginizi ekleyin

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

Türkiye’den Bildirilen İlk X’e Bağlı Lenfoproliferatif Hastalık İlişkili SH2D1A Mutasyonu Olgusu

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

Meltem AKÇABOY
Ali FETTAH
Selman KESİCİ
Ebru YILMAZ KESKİN
Takuya SEKİNE
Yenan T. BRYCESON
Çiğdem Seher KASAPKARA
Samuel C.C.Chiang
Sayfa
200–202
Yayın Tarihi
2022-11-05
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
🔖

Bu Makaleye Atıf Yap

AKÇABOY, M., FETTAH, A., KESİCİ, S., KESKİN, E. Y., SEKİNE, T., BRYCESON, Y. T., KASAPKARA, Ç. S., C.C.Chiang, S. (2022). Türkiye’den Bildirilen İlk X’e Bağlı Lenfoproliferatif Hastalık İlişkili SH2D1A Mutasyonu Olgusu. Turkish Journal of Hematology, Cilt: 35 - Sayı: 3, 200–202. https://ajindex.com/articles/606749

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (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.