Literature DB >> 24174341

Compound heterozygous RAG2 mutations mimicking hyper IgM syndrome.

A G L Riccetto1, M Buzolin, J F Fernandes, F Traina, M L R Barjas-de-Castro, M T N Silva, J B Oliveira, M M Vilela.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 24174341     DOI： 10.1007/s10875-013-9956-4

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


× No keyword cloud information.
  6 in total

1.  Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

Authors:  Suk See De Ravin; Edward W Cowen; Kol A Zarember; Narda L Whiting-Theobald; Douglas B Kuhns; Netanya G Sandler; Daniel C Douek; Stefania Pittaluga; Pietro L Poliani; Yu Nee Lee; Luigi D Notarangelo; Lei Wang; Frederick W Alt; Elizabeth M Kang; Joshua D Milner; Julie E Niemela; Mary Fontana-Penn; Sara H Sinal; Harry L Malech
Journal:  Blood       Date:  2010-05-20       Impact factor: 22.113

Review 2.  More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.

Authors:  Tim Niehues; Ruy Perez-Becker; Catharina Schuetz
Journal:  Clin Immunol       Date:  2010-02-20       Impact factor: 3.969

3.  Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.

Authors:  Taco W Kuijpers; Hanna Ijspeert; Ester M M van Leeuwen; Machiel H Jansen; Mette D Hazenberg; Kees C Weijer; Rene A W van Lier; Mirjam van der Burg
Journal:  Blood       Date:  2011-04-18       Impact factor: 22.113

4.  Highly variable clinical phenotypes of hypomorphic RAG1 mutations.

Authors:  Elizabeth Mannino Avila; Gulbu Uzel; Amy Hsu; Joshua D Milner; Maria L Turner; Stefania Pittaluga; Alexandra F Freeman; Steven M Holland
Journal:  Pediatrics       Date:  2010-10-18       Impact factor: 7.124

5.  A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

Authors:  Janet Chou; Rima Hanna-Wakim; Irit Tirosh; Jennifer Kane; David Fraulino; Yu Nee Lee; Soha Ghanem; Iman Mahfouz; André Mégarbané; Gérard Lefranc; Adlette Inati; Ghassan Dbaibo; Silvia Giliani; Luigi D Notarangelo; Raif S Geha; Michel J Massaad
Journal:  J Allergy Clin Immunol       Date:  2012-07-25       Impact factor: 10.793

6.  Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.

Authors:  Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Alain Fischer; Jose Luis Franco; Raif S Geha; Lennart Hammarström; Shigeaki Nonoyama; Luigi Daniele Notarangelo; Hans Dieter Ochs; Jennifer M Puck; Chaim M Roifman; Reinhard Seger; Mimi L K Tang
Journal:  Front Immunol       Date:  2011-11-08       Impact factor: 7.561
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.