Literature DB >> 30511102

Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.

Hamza A Alghamdi1, Suha A Tashkandi2, Eman M Alidrissi1, Rawan D Aledielah1, Khelad A AlSaidi2, Enas S Alharbi1, Murad K Habazi1, Mofareh S Alzahrani3.   

Abstract

Entities:  

Keywords:  Antibody deficiency; Centromeric instability; Cytogenetic; DNMT3B; Facial anomalies; HELLS; ICF; Immunodeficiency; Whole-exome sequencing; ZBTB24

Mesh：

Substances：

Year:  2018        PMID： 30511102     DOI： 10.1007/s10875-018-0569-9

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  8 in total

1.  ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.

Authors:  Namik Kaya; Saleh Al-Muhsen; Bandar Al-Saud; Albandary Al-Bakheet; Dilek Colak; Abdulaziz Al-Ghonaium; Hasan Al-Dhekri; Hamoud Al-Mousa; Rand Arnaout; Mohammad Al-Owain; Mohammad Iqbal
Journal:  J Clin Immunol       Date:  2010-12-01       Impact factor: 8.317

2.  The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

Authors:  R S Hansen; C Wijmenga; P Luo; A M Stanek; T K Canfield; C M Weemaes; S M Gartler
Journal:  Proc Natl Acad Sci U S A       Date:  1999-12-07       Impact factor: 11.205

3.  Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.

Authors:  M L van den Boogaard; P E Thijssen; C Aytekin; F Licciardi; A A Kıykım; L Spossito; V A S H Dalm; G J Driessen; R Kersseboom; F de Vries; M M van Ostaijen-Ten Dam; A Ikinciogullari; F Dogu; M Oleastro; E Bailardo; L Daxinger; E Nain; S Baris; M J D van Tol; C Weemaes; S M van der Maarel
Journal:  Clin Genet       Date:  2017-03-07       Impact factor: 4.438

4.  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

5.  Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Authors:  Corry M R Weemaes; Maarten J D van Tol; Jun Wang; Monique M van Ostaijen-ten Dam; Marja C J A van Eggermond; Peter E Thijssen; Caner Aytekin; Nicola Brunetti-Pierri; Mirjam van der Burg; E Graham Davies; Alina Ferster; Dieter Furthner; Giorgio Gimelli; Andy Gennery; Barbara Kloeckener-Gruissem; Stephan Meyn; Cynthia Powell; Ismail Reisli; Catharina Schuetz; Ansgar Schulz; Andrea Shugar; Peter J van den Elsen; Silvère M van der Maarel
Journal:  Eur J Hum Genet       Date:  2013-03-13       Impact factor: 4.246

6.  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

7.  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

8.  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
  8 in total
  2 in total

1.  Lsh/HELLS is required for B lymphocyte development and immunoglobulin class switch recombination.

Authors:  Yafeng He; Jianke Ren; Xiaoping Xu; Kai Ni; Andrew Schwader; Richard Finney; Can Wang; Lei Sun; Kimberly Klarmann; Jonathan Keller; Anthony Tubbs; Andre Nussenzweig; Kathrin Muegge
Journal:  Proc Natl Acad Sci U S A       Date:  2020-07-29       Impact factor: 11.205

Review 2.  DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome.

Authors:  Maja Vukic; Lucia Daxinger
Journal:  Essays Biochem       Date:  2019-12-20       Impact factor: 8.000
  2 in total

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