Literature DB >> 30159811

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency.

Sarah E Henrickson1, Jolan E Walter2,3, Colin Quinn4, Jennifer A Kanakry5, Tanya Bardakjian4, Dimana Dimitrova5, Boglarka Ujhazi2,3, Krisztian Csomos2,3, Marita Bosticardo6, Kerry Dobbs6, MacLean Nasrallah7, Luigi D Notarangelo6, Steven M Holland6, Olajumoke Fadugba8.   

Abstract

Entities:  

Keywords:  RAG; SCID; WES; hypomorphic mutations; myopathy

Mesh：

Substances：

Year:  2018        PMID： 30159811      PMCID： PMC6469384          DOI： 10.1007/s10875-018-0538-3

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


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  14 in total

1.  The association of common variable immune deficiency with idiopathic inflammatory myopathies.

Authors:  Andrea Váncsa; Peter Szodoray; Ildikó Kovács; Anikó Kapitány; Lajos Gergely; Katalin Dankó
Journal:  Joint Bone Spine       Date:  2010-09-17       Impact factor: 4.929

2.  A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

Authors:  Hassan Abolhassani; Ning Wang; Asghar Aghamohammadi; Nima Rezaei; Yu Nee Lee; Francesco Frugoni; Luigi D Notarangelo; Qiang Pan-Hammarström; Lennart Hammarström
Journal:  J Allergy Clin Immunol       Date:  2014-07-02       Impact factor: 10.793

3.  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

4.  Polymyositis with myotonia in a patient with common variable immunodefi ciency.

Authors:  Ying Li; Wei Zhang; L Q Feng; Yun Yuan
Journal:  Neurol India       Date:  2014 Jan-Feb       Impact factor: 2.117

5.  Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.

Authors:  David Buchbinder; Rebecca Baker; Yu Nee Lee; Juan Ravell; Yu Zhang; Joshua McElwee; Diane Nugent; Emily M Coonrod; Jacob D Durtschi; Nancy H Augustine; Karl V Voelkerding; Krisztian Csomos; Lindsey Rosen; Sarah Browne; Jolan E Walter; Luigi D Notarangelo; Harry R Hill; Attila Kumánovics
Journal:  J Clin Immunol       Date:  2014-12-17       Impact factor: 8.317

Review 6.  Human RAG mutations: biochemistry and clinical implications.

Authors:  Luigi D Notarangelo; Min-Sung Kim; Jolan E Walter; Yu Nee Lee
Journal:  Nat Rev Immunol       Date:  2016-03-21       Impact factor: 53.106

7.  Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity.

Authors:  Lauren A Henderson; Francesco Frugoni; Gregory Hopkins; Helen de Boer; Sung-Yun Pai; Yu Nee Lee; Jolan E Walter; Melissa M Hazen; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-07-24       Impact factor: 10.793

8.  Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.

Authors:  Christoph B Geier; Alexander Piller; Angela Linder; Kai M T Sauerwein; Martha M Eibl; Hermann M Wolf
Journal:  PLoS One       Date:  2015-07-17       Impact factor: 3.240

9.  Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.

Authors:  Dylan Lawless; Christoph B Geier; Jocelyn R Farmer; Hana Lango Allen; Daniel Thwaites; Faranaz Atschekzei; Matthew Brown; David Buchbinder; Siobhan O Burns; Manish J Butte; Krisztian Csomos; Sri V V Deevi; William Egner; Stephan Ehl; Martha M Eibl; Olajumoke Fadugba; Zsofia Foldvari; Deanna M Green; Sarah E Henrickson; Steven M Holland; Tami John; Christian Klemann; Taco W Kuijpers; Fernando Moreira; Alexander Piller; Paula Rayner-Matthews; Neil D Romberg; Ravishankar Sargur; Reinhold E Schmidt; Claudia Schröder; Catharina Schuetz; Svetlana O Sharapova; Ken G C Smith; Georgios Sogkas; Carsten Speckmann; Kathleen Stirrups; Adrian J Thrasher; Hermann M Wolf; Luigi D Notarangelo; Rashida Anwar; Joan Boyes; Boglarka Ujhazi; James Thaventhiran; Jolan E Walter; Sinisa Savic
Journal:  J Allergy Clin Immunol       Date:  2018-03-02       Impact factor: 10.793

10.  A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Authors:  Yu Nee Lee; Francesco Frugoni; Kerry Dobbs; Jolan E Walter; Silvia Giliani; Andrew R Gennery; Waleed Al-Herz; Elie Haddad; Francoise LeDeist; Jack H Bleesing; Lauren A Henderson; Sung-Yun Pai; Robert P Nelson; Dalia H El-Ghoneimy; Reem A El-Feky; Shereen M Reda; Elham Hossny; Pere Soler-Palacin; Ramsay L Fuleihan; Niraj C Patel; Michel J Massaad; Raif S Geha; Jennifer M Puck; Paolo Palma; Caterina Cancrini; Karin Chen; Mauno Vihinen; Frederick W Alt; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-11-28       Impact factor: 10.793
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  2 in total

Review 1.  Human genetic and immunological dissection of papillomavirus-driven diseases: new insights into their pathogenesis.

Authors:  Vivien Béziat; Jean-Laurent Casanova; Emmanuelle Jouanguy
Journal:  Curr Opin Virol       Date:  2021-09-21       Impact factor: 7.090

2.  Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency.

Authors:  Mayra B Dorna; Pamela F A Barbosa; Andréia Rangel-Santos; Krisztian Csomos; Boglarka Ujhazi; Joseph F Dasso; Daniel Thwaites; Joan Boyes; Sinisa Savic; Jolan E Walter
Journal:  Front Pediatr       Date:  2019-04-16       Impact factor: 3.418
  2 in total

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