Hematopoietic stem cell transplantation in a patient with ICF2 syndrome presenting with EBV-induced hemophagocytic lymphohystiocytosis

Transplantation

Volumn 100, Issue 7, 2016, Pages e35-e36

  Harnisch, Esther ^a   Buddingh, Emilie P ^b   Thijssen, Peter E ^a   Brooks, Alice S ^c   Driessen, Gertjan J ^b   Kersseboom, Rogier ^b   Lankester, Arjan C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOSPORIN; DEXAMETHASONE; ETOPOSIDE; FERRITIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INTERLEUKIN 2 RECEPTOR; RITUXIMAB; TRIACYLGLYCEROL; VIRUS DNA;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; CASE REPORT; CHILD; EPSTEIN BARR VIRUS INFECTION; FEVER; GENE; GENE MUTATION; GENERALIZED LYMPHADENOPATHY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHAGOCYTIC SYNDROME; HEPATOSPLENOMEGALY; HUMAN; ICF2 SYNDROME; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; LABORATORY TEST; LETTER; MALE; MEDICAL HISTORY; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VIRUS LOAD; ZBTB24 GENE; IMMUNOLOGY; TREATMENT OUTCOME; VIROLOGY;

CHILD; EPSTEIN-BARR VIRUS INFECTIONS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; TREATMENT OUTCOME;

EID: 84976297362     PISSN: 00411337     EISSN: None     Source Type: Journal    
DOI: 10.1097/TP.0000000000001210     Document Type: Letter

References (3)

1. Weemaes CMR, van Tol MJD, Wang J, et al. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet. 2013;21:1219-1225.
2. Thijssen PE, Ito Y, Grillo G, et al. Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. Nat Commun. 2015;6:7870.
3. Bode SF, Ammann S, Al-Herz W, et al. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis. Haematologica. 2015;100:978-988.