Hematopoietic Stem Cell Transplantation in a Patient With ICF2 Syndrome Presenting With EBV-Induced Hemophagocytic Lymphohystiocytosis

Transplantation - Tập 100 Số 7 - Trang e35-e36 - 2016
Esther Harnisch1, Emilie P. Buddingh1, Peter Thijssen1, Alice S. Brooks1, Gertjan J. Driessen1, Rogier Kersseboom1, Arjan C. Lankester1
11 Leiden University Medical Center, Leiden, The Netherlands. Currently: Medical Centre Haaglanden, The Hague.; 2 Sophia Childrens Hospital, Rotterdam, The Netherlands.; 4 Erasmus Medical Centre, Rotterdam, The Netherlands.; Accepted 20 February 2016.; E.H. is the primary writing author. E.P.B. is the reviewing author. P.E.T. is the researcher responsible for gene sequencing of the ZBTB24 gene in this patient. A.B. is the clinical geneticist collaborating with and supervising R.K. G.J.D. is the reviewing author and pediatric immunologist who treated patient during EBV infection and HLH disease. R.K. is the reviewing author and clinical geneticist who diagnosed the patient with ICF2 syndrome. A.C.L. is the reviewing author and pediatric immunologist who treated patient during hematopoietic stem cell transplantation.; Received 6 December 2015. Revision received 16 February 2016.; The authors declare no funding or conflicts of interest.

Tóm tắt

Từ khóa


Tài liệu tham khảo

Weemaes, 2013, Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects, Eur J Hum Genet, 21, 1219, 10.1038/ejhg.2013.40

Thijssen, 2015, Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome, Nat Commun, 6, 7870, 10.1038/ncomms8870

Bode, 2015, The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis, Haematologica, 100, 978, 10.3324/haematol.2014.121608