Literature DB >> 23403051

Common variable immunodeficiency as the initial presentation of dyskeratosis congenita.

Eric J Allenspach, Cristian Bellodi, David Jeong, Noam Kopmar, Tomoka Nakamura, Hans D Ochs, Davide Ruggero, Suzanne Skoda-Smith, Akiko Shimamura, Troy R Torgerson.   

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Year:  2013        PMID： 23403051      PMCID： PMC4560355          DOI： 10.1016/j.jaci.2012.11.052

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  10 in total

Review 1.  Dyskeratosis congenita in all its forms.

Authors:  I Dokal
Journal:  Br J Haematol       Date:  2000-09       Impact factor: 6.998

Review 2.  Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.

Authors:  S Jyonouchi; L Forbes; E Ruchelli; K E Sullivan
Journal:  Pediatr Allergy Immunol       Date:  2011-02-01       Impact factor: 6.377

3.  Genome-wide association identifies diverse causes of common variable immunodeficiency.

Authors:  Jordan S Orange; Joseph T Glessner; Elena Resnick; Kathleen E Sullivan; Mary Lucas; Berne Ferry; Cecilia E Kim; Cuiping Hou; Fengxiang Wang; Rosetta Chiavacci; Subra Kugathasan; John W Sleasman; Robert Baldassano; Elena E Perez; Helen Chapel; Charlotte Cunningham-Rundles; Hakon Hakonarson
Journal:  J Allergy Clin Immunol       Date:  2011-04-17       Impact factor: 10.793

4.  Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.

Authors:  Neelam Giri; Rees Lee; Albert Faro; Charles B Huddleston; Frances V White; Blanche P Alter; Sharon A Savage
Journal:  BMC Blood Disord       Date:  2011-06-15

Review 5.  Do ribosomopathies explain some cases of common variable immunodeficiency?

Authors:  S Khan; J Pereira; P J Darbyshire; S Holding; P C Doré; W A C Sewell; A Huissoon
Journal:  Clin Exp Immunol       Date:  2010-11-09       Impact factor: 4.330

Review 6.  Pathophysiology and management of inherited bone marrow failure syndromes.

Authors:  Akiko Shimamura; Blanche P Alter
Journal:  Blood Rev       Date:  2010-04-24       Impact factor: 8.250

Review 7.  Dyskeratosis congenita: a genetic disorder of many faces.

Authors:  M Kirwan; I Dokal
Journal:  Clin Genet       Date:  2007-11-14       Impact factor: 4.438

8.  Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita.

Authors:  Matt Knudson; Shashikant Kulkarni; Zuhair K Ballas; Monica Bessler; Frederick Goldman
Journal:  Blood       Date:  2004-07-06       Impact factor: 22.113

9.  Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Authors:  Blanche P Alter; Gabriela M Baerlocher; Sharon A Savage; Stephen J Chanock; Babette B Weksler; Judith P Willner; June A Peters; Neelam Giri; Peter M Lansdorp
Journal:  Blood       Date:  2007-04-27       Impact factor: 22.113

10.  Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.

Authors:  Erin M Parry; Jonathan K Alder; Stella S Lee; John A Phillips; James E Loyd; Priya Duggal; Mary Armanios
Journal:  J Med Genet       Date:  2011-03-17       Impact factor: 6.318
  10 in total
  9 in total

1.  Telomere Length and Use of Immunosuppressive Medications in Idiopathic Pulmonary Fibrosis.

Authors:  Chad A Newton; David Zhang; Justin M Oldham; Julia Kozlitina; Shwu-Fan Ma; Fernando J Martinez; Ganesh Raghu; Imre Noth; Christine Kim Garcia
Journal:  Am J Respir Crit Care Med       Date:  2019-08-01       Impact factor: 21.405

2.  Common Variable Immunodeficiency Caused by FANC Mutations.

Authors:  Yujin Sekinaka; Noriko Mitsuiki; Kohsuke Imai; Miharu Yabe; Hiromasa Yabe; Kanako Mitsui-Sekinaka; Kenichi Honma; Masatoshi Takagi; Ayako Arai; Kenichi Yoshida; Yusuke Okuno; Yuichi Shiraishi; Kenichi Chiba; Hiroko Tanaka; Satoru Miyano; Hideki Muramatsu; Seiji Kojima; Asuka Hira; Minoru Takata; Osamu Ohara; Seishi Ogawa; Tomohiro Morio; Shigeaki Nonoyama
Journal:  J Clin Immunol       Date:  2017-05-11       Impact factor: 8.317

3.  Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.

Authors:  Angela Scott; Jason Glover; Suzanne Skoda-Smith; Troy R Torgerson; Min Xu; Lauri M Burroughs; Ann E Woolfrey; Mark D Fleming; Akiko Shimamura
Journal:  Pediatr Blood Cancer       Date:  2015-05-22       Impact factor: 3.167

Review 4.  Advances in basic and clinical immunology in 2013.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

Review 5.  Ribosomopathies: mechanisms of disease.

Authors:  Hani Nakhoul; Jiangwei Ke; Xiang Zhou; Wenjuan Liao; Shelya X Zeng; Hua Lu
Journal:  Clin Med Insights Blood Disord       Date:  2014-08-14

Review 6.  Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity.

Authors:  Hassan Abolhassani; Yating Wang; Lennart Hammarström; Qiang Pan-Hammarström
Journal:  Front Immunol       Date:  2021-08-17       Impact factor: 7.561

7.  Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.

Authors:  Kerstin Felgentreff; Ulrich Baumann; Christian Klemann; Catharina Schuetz; Dorothee Viemann; Martin Wetzke; Ulrich Pannicke; Sandra von Hardenberg; Bernd Auber; Klaus-Michael Debatin; Eva-Maria Jacobsen; Manfred Hoenig; Ansgar Schulz; Klaus Schwarz
Journal:  J Clin Immunol       Date:  2021-10-30       Impact factor: 8.317

Review 8.  Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Authors:  Moisés Ó Fiesco-Roa; Benilde García-de Teresa; Paula Leal-Anaya; Renée van 't Hek; Talia Wegman-Ostrosky; Sara Frías; Alfredo Rodríguez
Journal:  Front Oncol       Date:  2022-08-25       Impact factor: 5.738

9.  A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita.

Authors:  Chunyu Yuan; Dongmei Deng; Jianqiu Yang; Simeng Liu; Qihong Qian; Min Chen; Shengru Zhou; Yujiang Li; Min Li
Journal:  Clin Cosmet Investig Dermatol       Date:  2022-09-09
  9 in total

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