Literature DB >> 24331380

Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested.

Catharina Schuetz1, Ulrich Pannicke2, Eva-Maria Jacobsen3, Siegfried Burggraf4, Michael H Albert5, Manfred Hönig3, Tim Niehues6, Oliver Feyen7, Stephan Ehl8, Klaus-Michael Debatin3, Wilhelm Friedrich3, Ansgar S Schulz3, Klaus Schwarz9.   

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Year:  2013        PMID: 24331380     DOI: 10.1016/j.jaci.2013.10.021

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


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  21 in total

1.  A Toddler With Rash, Encephalopathy, and Hemolytic Anemia.

Authors:  Christiana Smith; Cullen Dutmer; D Scott Schmid; Megan K Dishop; William J Bellini; Erwin W Gelfand; Edwin J Asturias
Journal:  J Pediatric Infect Dis Soc       Date:  2015-05-28       Impact factor: 3.164

2.  DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

Authors:  Timo Volk; Ulrich Pannicke; Ismail Reisli; Alla Bulashevska; Julia Ritter; Andrea Björkman; Alejandro A Schäffer; Manfred Fliegauf; Esra H Sayar; Ulrich Salzer; Paul Fisch; Dietmar Pfeifer; Michela Di Virgilio; Hongzhi Cao; Fang Yang; Karin Zimmermann; Sevgi Keles; Zafer Caliskaner; S Ükrü Güner; Detlev Schindler; Lennart Hammarström; Marta Rizzi; Michael Hummel; Qiang Pan-Hammarström; Klaus Schwarz; Bodo Grimbacher
Journal:  Hum Mol Genet       Date:  2015-10-16       Impact factor: 6.150

3.  Characterization of T and B cell repertoire diversity in patients with RAG deficiency.

Authors:  Yu Nee Lee; Francesco Frugoni; Kerry Dobbs; Irit Tirosh; Likun Du; Francesca A Ververs; Heng Ru; Lisa Ott de Bruin; Mehdi Adeli; Jacob H Bleesing; David Buchbinder; Manish J Butte; Caterina Cancrini; Karin Chen; Sharon Choo; Reem A Elfeky; Andrea Finocchi; Ramsay L Fuleihan; Andrew R Gennery; Dalia H El-Ghoneimy; Lauren A Henderson; Waleed Al-Herz; Elham Hossny; Robert P Nelson; Sung-Yun Pai; Niraj C Patel; Shereen M Reda; Pere Soler-Palacin; Raz Somech; Paolo Palma; Hao Wu; Silvia Giliani; Jolan E Walter; Luigi D Notarangelo
Journal:  Sci Immunol       Date:  2016-12-16

Review 4.  Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.

Authors:  Tami John; Jolan E Walter; Catherina Schuetz; Karin Chen; Roshini S Abraham; Carmem Bonfim; Thomas G Boyce; Avni Y Joshi; Elizabeth Kang; Beatriz Tavares Costa Carvalho; Arash Mahajerin; Diane Nugent; Geetha Puthenveetil; Amit Soni; Helen Su; Morton J Cowan; Luigi Notarangelo; David Buchbinder
Journal:  J Clin Immunol       Date:  2016-08-18       Impact factor: 8.317

Review 5.  Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies.

Authors:  Jolan E Walter; Jocelyn R Farmer; Zsofia Foldvari; Troy R Torgerson; Megan A Cooper
Journal:  J Allergy Clin Immunol Pract       Date:  2016 Nov - Dec

6.  Crystal structure of the V(D)J recombinase RAG1-RAG2.

Authors:  Min-Sung Kim; Mikalai Lapkouski; Wei Yang; Martin Gellert
Journal:  Nature       Date:  2015-02-18       Impact factor: 49.962

7.  Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Authors:  Jocelyn R Farmer; Zsofia Foldvari; Boglarka Ujhazi; Suk See De Ravin; Karin Chen; Jack J H Bleesing; Catharina Schuetz; Waleed Al-Herz; Roshini S Abraham; Avni Y Joshi; Beatriz T Costa-Carvalho; David Buchbinder; Claire Booth; Andreas Reiff; Polly J Ferguson; Asghar Aghamohammadi; Hassan Abolhassani; Jennifer M Puck; Mehdi Adeli; Caterina Cancrini; Paolo Palma; Alice Bertaina; Franco Locatelli; Gigliola Di Matteo; Raif S Geha; Maria G Kanariou; Lilia Lycopoulou; Marianna Tzanoudaki; John W Sleasman; Suhag Parikh; Gloria Pinero; Bernard M Fischer; Ghassan Dbaibo; Ekrem Unal; Turkan Patiroglu; Musa Karakukcu; Khulood Khalifa Al-Saad; Meredith A Dilley; Sung-Yun Pai; Cullen M Dutmer; Erwin W Gelfand; Christoph B Geier; Martha M Eibl; Hermann M Wolf; Lauren A Henderson; Melissa M Hazen; Carmem Bonfim; Beata Wolska-Kuśnierz; Manish J Butte; Joseph D Hernandez; Sarah K Nicholas; Polina Stepensky; Shanmuganathan Chandrakasan; Maurizio Miano; Emma Westermann-Clark; Vera Goda; Gergely Kriván; Steven M Holland; Olajumoke Fadugba; Sarah E Henrickson; Ahmet Ozen; Elif Karakoc-Aydiner; Safa Baris; Ayca Kiykim; Robbert Bredius; Birgit Hoeger; Kaan Boztug; Olga Pashchenko; Benedicte Neven; Despina Moshous; Jean-Pierre de Villartay; Ahmed Aziz Bousfiha; Harry R Hill; Luigi D Notarangelo; Jolan E Walter
Journal:  J Allergy Clin Immunol Pract       Date:  2019-03-12

Review 8.  Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment.

Authors:  Markus G Seidel
Journal:  Blood       Date:  2014-08-27       Impact factor: 22.113

9.  Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Authors:  Jolan E Walter; Lindsey B Rosen; Krisztian Csomos; Jacob M Rosenberg; Divij Mathew; Marton Keszei; Boglarka Ujhazi; Karin Chen; Yu Nee Lee; Irit Tirosh; Kerry Dobbs; Waleed Al-Herz; Morton J Cowan; Jennifer Puck; Jack J Bleesing; Michael S Grimley; Harry Malech; Suk See De Ravin; Andrew R Gennery; Roshini S Abraham; Avni Y Joshi; Thomas G Boyce; Manish J Butte; Kari C Nadeau; Imelda Balboni; Kathleen E Sullivan; Javeed Akhter; Mehdi Adeli; Reem A El-Feky; Dalia H El-Ghoneimy; Ghassan Dbaibo; Rima Wakim; Chiara Azzari; Paolo Palma; Caterina Cancrini; Kelly Capuder; Antonio Condino-Neto; Beatriz T Costa-Carvalho; Joao Bosco Oliveira; Chaim Roifman; David Buchbinder; Attila Kumanovics; Jose Luis Franco; Tim Niehues; Catharina Schuetz; Taco Kuijpers; Christina Yee; Janet Chou; Michel J Masaad; Raif Geha; Gulbu Uzel; Rebecca Gelman; Steven M Holland; Mike Recher; Paul J Utz; Sarah K Browne; Luigi D Notarangelo
Journal:  J Clin Invest       Date:  2015-10-12       Impact factor: 14.808

10.  RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.

Authors:  Emma Westermann-Clark; Alice Grossi; Francesca Fioredda; Stefano Giardino; Enrico Cappelli; Paola Terranova; Elena Palmisani; Jocelyn R Farmer; Zsofia Foldvari; Yasuhiro Yamazaki; Maura Faraci; Edoardo Lanino; Luigi D Notarangelo; Carlo Dufour; Isabella Ceccherini; Jolan E Walter; Maurizio Miano
Journal:  Clin Immunol       Date:  2017-11-20       Impact factor: 3.969

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