Literature DB >> 31520839

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.

Caitlin M Burk1, Kara E Coffey2, Emily M Mace3, Bret L Bostwick4, Ivan K Chinn4, Zeynep H Coban-Akdemir4, Shalini N Jhangiani4, James R Lupski4, Damara Ortiz2, Jessie L Barnum2, Steven W Allen2, Leanna-Marie Robertson2, Jordan S Orange3, Hey J Chong2.   

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Year:  2019        PMID： 31520839      PMCID： PMC7064430          DOI： 10.1016/j.jaip.2019.08.040

Source DB:  PubMed          Journal:  J Allergy Clin Immunol Pract


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  11 in total

1.  A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

Authors:  Erez Rechavi; Atar Lev; Eran Eyal; Ortal Barel; Nitzan Kol; Sarit Farage Barhom; Ben Pode-Shakked; Yair Anikster; Raz Somech; Amos J Simon
Journal:  J Clin Immunol       Date:  2016-10-12       Impact factor: 8.317

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

Authors:  Esther Harnisch; Emilie P Buddingh; Peter E Thijssen; Alice S Brooks; Gertjan J Driessen; Rogier Kersseboom; Arjan C Lankester
Journal:  Transplantation       Date:  2016-07       Impact factor: 4.939

3.  Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

Authors:  Jessica C de Greef; Jun Wang; Judit Balog; Johan T den Dunnen; Rune R Frants; Kirsten R Straasheijm; Caner Aytekin; Mirjam van der Burg; Laurence Duprez; Alina Ferster; Andrew R Gennery; Giorgio Gimelli; Ismail Reisli; Catharina Schuetz; Ansgar Schulz; Dominique F C M Smeets; Yves Sznajer; Cisca Wijmenga; Marja C van Eggermond; Monique M van Ostaijen-Ten Dam; Arjan C Lankester; Maarten J D van Tol; Peter J van den Elsen; Corry M Weemaes; Silvère M van der Maarel
Journal:  Am J Hum Genet       Date:  2011-05-19       Impact factor: 11.025

4.  An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome.

Authors:  M Jeanpierre; C Turleau; A Aurias; M Prieur; F Ledeist; A Fischer; E Viegas-Pequignot
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

5.  Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

Authors:  M M Hagleitner; A Lankester; P Maraschio; M Hultén; J P Fryns; C Schuetz; G Gimelli; E G Davies; A Gennery; B H Belohradsky; R de Groot; E J A Gerritsen; T Mattina; P J Howard; A Fasth; I Reisli; D Furthner; M A Slatter; A J Cant; G Cazzola; P J van Dijken; M van Deuren; J C de Greef; S M van der Maarel; C M R Weemaes
Journal:  J Med Genet       Date:  2007-09-24       Impact factor: 6.318

6.  Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.

Authors:  Andrew R Gennery; Mary A Slatter; Robbert G Bredius; Melanie M Hagleitner; Corry Weemaes; Andrew J Cant; Arjan C Lankester
Journal:  Pediatrics       Date:  2007-10-01       Impact factor: 7.124

7.  Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).

Authors:  Horst von Bernuth; Ethiraj Ravindran; Hang Du; Sebastian Fröhler; Karoline Strehl; Nadine Krämer; Lina Issa-Jahns; Borko Amulic; Olaf Ninnemann; Mei-Sheng Xiao; Katharina Eirich; Uwe Kölsch; Kathrin Hauptmann; Rainer John; Detlev Schindler; Volker Wahn; Wei Chen; Angela M Kaindl
Journal:  Orphanet J Rare Dis       Date:  2014-10-21       Impact factor: 4.123

Review 8.  Human immunity against EBV-lessons from the clinic.

Authors:  Stuart G Tangye; Umaimainthan Palendira; Emily S J Edwards
Journal:  J Exp Med       Date:  2017-01-20       Impact factor: 14.307

9.  Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Authors:  Peter E Thijssen; Yuya Ito; Giacomo Grillo; Jun Wang; Guillaume Velasco; Hirohisa Nitta; Motoko Unoki; Minako Yoshihara; Mikita Suyama; Yu Sun; Richard J L F Lemmers; Jessica C de Greef; Andrew Gennery; Paolo Picco; Barbara Kloeckener-Gruissem; Tayfun Güngör; Ismail Reisli; Capucine Picard; Kamila Kebaili; Bertrand Roquelaure; Tsuyako Iwai; Ikuko Kondo; Takeo Kubota; Monique M van Ostaijen-Ten Dam; Maarten J D van Tol; Corry Weemaes; Claire Francastel; Silvère M van der Maarel; Hiroyuki Sasaki
Journal:  Nat Commun       Date:  2015-07-28       Impact factor: 14.919

10.  A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).

Authors:  Irbaz Bin Riaz; Warda Faridi; Mrinal M Patnaik; Roshini S Abraham
Journal:  Front Immunol       Date:  2019-04-16       Impact factor: 7.561
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  1 in total

1.  Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1.

Authors:  Monica T Kraft; Lubna S Mehyar; Benjamin T Prince; Shalini C Reshmi; Roshini S Abraham; Rolla Abu-Arja
Journal:  J Clin Immunol       Date:  2021-02-05       Impact factor: 8.317
  1 in total

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