Literature DB >> 29104089

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

Emma Westermann-Clark1, Alice Grossi2, Francesca Fioredda3, Stefano Giardino4, Enrico Cappelli3, Paola Terranova3, Elena Palmisani3, Jocelyn R Farmer5, Zsofia Foldvari6, Yasuhiro Yamazaki7, Maura Faraci4, Edoardo Lanino4, Luigi D Notarangelo7, Carlo Dufour3, Isabella Ceccherini2, Jolan E Walter8, Maurizio Miano9.   

Abstract

Entities:  

Keywords:  ALPS; Anti-cytokine autoantibodies; Autoimmune cytopenia; Hypomorphic RAG mutation; Viral infection

Mesh：

Substances：

Year:  2017        PMID： 29104089      PMCID： PMC5941932          DOI： 10.1016/j.clim.2017.10.012

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


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  10 in total

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

Authors:  Catharina Schuetz; Ulrich Pannicke; Eva-Maria Jacobsen; Siegfried Burggraf; Michael H Albert; Manfred Hönig; Tim Niehues; Oliver Feyen; Stephan Ehl; Klaus-Michael Debatin; Wilhelm Friedrich; Ansgar S Schulz; Klaus Schwarz
Journal:  J Allergy Clin Immunol       Date:  2013-12-10       Impact factor: 10.793

2.  New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children.

Authors:  Nathalie Aladjidi; Guy Leverger; Thierry Leblanc; Marie Quitterie Picat; Gérard Michel; Yves Bertrand; Brigitte Bader-Meunier; Alain Robert; Brigitte Nelken; Virginie Gandemer; Hélène Savel; Jean Louis Stephan; Fanny Fouyssac; Julien Jeanpetit; Caroline Thomas; Pierre Rohrlich; André Baruchel; Alain Fischer; Geneviève Chêne; Y Perel
Journal:  Haematologica       Date:  2011-01-12       Impact factor: 9.941

3.  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:  2016-11-01       Impact factor: 14.808

4.  Single-Center Experience of Unrelated and Haploidentical Stem Cell Transplantation with TCRαβ and CD19 Depletion in Children with Primary Immunodeficiency Syndromes.

Authors:  Dmitry Balashov; Anna Shcherbina; Michael Maschan; Pavel Trakhtman; Yulia Skvortsova; Larisa Shelikhova; Alexandra Laberko; Anna Livshits; Galina Novichkova; Alexei Maschan
Journal:  Biol Blood Marrow Transplant       Date:  2015-07-15       Impact factor: 5.742

5.  HLA-haploidentical stem cell transplantation after removal of αβ+ T and B cells in children with nonmalignant disorders.

Authors:  Alice Bertaina; Pietro Merli; Sergio Rutella; Daria Pagliara; Maria Ester Bernardo; Riccardo Masetti; Daniela Pende; Michela Falco; Rupert Handgretinger; Francesca Moretta; Barbarella Lucarelli; Letizia P Brescia; Giuseppina Li Pira; Manuela Testi; Caterina Cancrini; Nabil Kabbara; Rita Carsetti; Andrea Finocchi; Alessandro Moretta; Lorenzo Moretta; Franco Locatelli
Journal:  Blood       Date:  2014-05-28       Impact factor: 22.113

Review 6.  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

7.  Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS).

Authors:  David T Teachey; Catherine S Manno; Kelly M Axsom; Timothy Andrews; John K Choi; Barbara H Greenbaum; Joseph M McMann; Kathleen E Sullivan; Susan F Travis; Stephan A Grupp
Journal:  Blood       Date:  2004-11-12       Impact factor: 22.113

8.  T-cell receptor αβ+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency.

Authors:  Ravi M Shah; Reem Elfeky; Zohreh Nademi; Waseem Qasim; Persis Amrolia; Robert Chiesa; Kanchan Rao; Giovanna Lucchini; Juliana M F Silva; Austen Worth; Dawn Barge; David Ryan; Jane Conn; Andrew J Cant; Roderick Skinner; Intan Juliana Abd Hamid; Terence Flood; Mario Abinun; Sophie Hambleton; Andrew R Gennery; Paul Veys; Mary Slatter
Journal:  J Allergy Clin Immunol       Date:  2017-08-03       Impact factor: 10.793

9.  V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Authors:  A Villa; C Sobacchi; L D Notarangelo; F Bozzi; M Abinun; T G Abrahamsen; P D Arkwright; M Baniyash; E G Brooks; M E Conley; P Cortes; M Duse; A Fasth; A M Filipovich; A J Infante; A Jones; E Mazzolari; S M Muller; S Pasic; G Rechavi; M G Sacco; S Santagata; M L Schroeder; R Seger; D Strina; A Ugazio; J Väliaho; M Vihinen; L B Vogler; H Ochs; P Vezzoni; W Friedrich; K Schwarz
Journal:  Blood       Date:  2001-01-01       Impact factor: 22.113

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
  10 in total
  7 in total

Review 1.  RAG gene defects at the verge of immunodeficiency and immune dysregulation.

Authors:  Anna Villa; Luigi D Notarangelo
Journal:  Immunol Rev       Date:  2019-01       Impact factor: 12.988

2.  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

3.  Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.

Authors:  Maurizio Miano; Daniela Guardo; Alice Grossi; Elena Palmisani; Francesca Fioredda; Paola Terranova; Enrico Cappelli; Michela Lupia; Monica Traverso; Gianluca Dell'Orso; Fabio Corsolini; Andrea Beccaria; Marina Lanciotti; Isabella Ceccherini; Carlo Dufour
Journal:  Front Immunol       Date:  2022-05-17       Impact factor: 8.786

4.  Induction of Tolerance Towards Solid Organ Allografts Using Hematopoietic Cell Transplantation in Large Animal Models.

Authors:  Scott S Graves; David W Mathes; Rainer Storb
Journal:  OBM Transplant       Date:  2019-08-23

Review 5.  Autoimmunity as a continuum in primary immunodeficiency.

Authors:  Jolan E Walter; Irmel A Ayala; Diana Milojevic
Journal:  Curr Opin Pediatr       Date:  2019-12       Impact factor: 2.856

6.  Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.

Authors:  Maria Chitty-Lopez; Emma Westermann-Clark; Irina Dawson; Boglarka Ujhazi; Krisztian Csomos; Kerry Dobbs; Khuong Le; Yasuhiro Yamazaki; Amir A Sadighi Akha; Deepak Chellapandian; Ben Oshrine; Luigi D Notarangelo; Gauri Sunkersett; Jennifer W Leiding; Jolan E Walter
Journal:  Front Immunol       Date:  2020-09-29       Impact factor: 7.561

7.  Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Authors:  Alice Grossi; Maurizio Miano; Marina Lanciotti; Francesca Fioredda; Daniela Guardo; Elena Palmisani; Paola Terranova; Giuseppe Santamaria; Francesco Caroli; Roberta Caorsi; Stefano Volpi; Marco Gattorno; Carlo Dufour; Isabella Ceccherini
Journal:  Genes (Basel)       Date:  2021-08-24       Impact factor: 4.096
  7 in total

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