Literature DB >> 29477728

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

Dylan Lawless1, Christoph B Geier2, Jocelyn R Farmer3, Hana Lango Allen4, Daniel Thwaites5, Faranaz Atschekzei6, Matthew Brown4, David Buchbinder7, Siobhan O Burns8, Manish J Butte9, Krisztian Csomos10, Sri V V Deevi4, William Egner11, Stephan Ehl12, Martha M Eibl13, Olajumoke Fadugba14, Zsofia Foldvari15, Deanna M Green16, Sarah E Henrickson17, Steven M Holland18, Tami John19, Christian Klemann20, Taco W Kuijpers21, Fernando Moreira22, Alexander Piller2, Paula Rayner-Matthews4, Neil D Romberg23, Ravishankar Sargur11, Reinhold E Schmidt6, Claudia Schröder6, Catharina Schuetz24, Svetlana O Sharapova25, Ken G C Smith26, Georgios Sogkas6, Carsten Speckmann27, Kathleen Stirrups4, Adrian J Thrasher28, Hermann M Wolf29, Luigi D Notarangelo18, Rashida Anwar1, Joan Boyes5, Boglarka Ujhazi10, James Thaventhiran26, Jolan E Walter30, Sinisa Savic31.   

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Year:  2018        PMID: 29477728      PMCID: PMC6058308          DOI: 10.1016/j.jaci.2018.02.007

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


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  27 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

2.  Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.

Authors:  Claudia Schröder; Niklas Thomas Baerlecken; Ulrich Pannicke; Thilo Dörk; Torsten Witte; Roland Jacobs; Matthias Stoll; Klaus Schwarz; Bodo Grimbacher; Reinhold E Schmidt; Faranaz Atschekzei
Journal:  Clin Immunol       Date:  2017-02-20       Impact factor: 3.969

Review 3.  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

4.  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

5.  The V(D)J recombination activating gene, RAG-1.

Authors:  D G Schatz; M A Oettinger; D Baltimore
Journal:  Cell       Date:  1989-12-22       Impact factor: 41.582

6.  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

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.  SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

Authors:  Catharina Schuetz; Benedicte Neven; Christopher C Dvorak; Sandrine Leroy; Markus J Ege; Ulrich Pannicke; Klaus Schwarz; Ansgar S Schulz; Manfred Hoenig; Monika Sparber-Sauer; Susanne A Gatz; Christian Denzer; Stephane Blanche; Despina Moshous; Capucine Picard; Biljana N Horn; Jean-Pierre de Villartay; Marina Cavazzana; Klaus-Michael Debatin; Wilhelm Friedrich; Alain Fischer; Morton J Cowan
Journal:  Blood       Date:  2013-10-21       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.  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

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  19 in total

1.  A novel RAG1 mutation reveals a critical in vivo role for HMGB1/2 during V(D)J recombination.

Authors:  Daniel T Thwaites; Clive Carter; Dylan Lawless; Sinisa Savic; Joan M Boyes
Journal:  Blood       Date:  2018-12-11       Impact factor: 22.113

Review 2.  Allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency.

Authors:  Emma C Morris
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2020-12-04

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

Authors:  Sarah E Henrickson; Jolan E Walter; Colin Quinn; Jennifer A Kanakry; Tanya Bardakjian; Dimana Dimitrova; Boglarka Ujhazi; Krisztian Csomos; Marita Bosticardo; Kerry Dobbs; MacLean Nasrallah; Luigi D Notarangelo; Steven M Holland; Olajumoke Fadugba
Journal:  J Clin Immunol       Date:  2018-08-30       Impact factor: 8.317

4.  Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency.

Authors:  Georgios Sogkas; Natalia Dubrowinskaja; Katharina Schütz; Lars Steinbrück; Jasper Götting; Nicolaus Schwerk; Ulrich Baumann; Bodo Grimbacher; Torsten Witte; Reinhold E Schmidt; Faranaz Atschekzei
Journal:  Int Arch Allergy Immunol       Date:  2021-10-07       Impact factor: 2.749

5.  Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Authors:  Irit Tirosh; Yasuhiro Yamazaki; Francesco Frugoni; Francesca A Ververs; Eric J Allenspach; Yu Zhang; Siobhan Burns; Waleed Al-Herz; Lenora Noroski; Jolan E Walter; Andrew R Gennery; Mirjam van der Burg; Luigi D Notarangelo; Yu Nee Lee
Journal:  J Allergy Clin Immunol       Date:  2018-06-18       Impact factor: 10.793

Review 6.  RAG Deficiency: Two Genes, Many Diseases.

Authors:  Ottavia M Delmonte; Catharina Schuetz; Luigi D Notarangelo
Journal:  J Clin Immunol       Date:  2018-07-25       Impact factor: 8.317

7.  Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.

Authors:  Saul Oswaldo Lugo-Reyes; Nina Pastor; Edith González-Serrano; Marco Antonio Yamazaki-Nakashimada; Selma Scheffler-Mendoza; Laura Berron-Ruiz; Guillermo Wakida; Maria Enriqueta Nuñez-Nuñez; Ana Paola Macias-Robles; Aide Tamara Staines-Boone; Edna Venegas-Montoya; Carmen Alaez-Verson; Carolina Molina-Garay; Luis Leonardo Flores-Lagunes; Karol Carrillo-Sanchez; Julie Niemela; Sergio D Rosenzweig; Paul Gaytan; Jorge A Yañez; Ivan Martinez-Duncker; Luigi D Notarangelo; Sara Espinosa-Padilla; Mario Ernesto Cruz-Munoz
Journal:  J Clin Immunol       Date:  2021-05-05       Impact factor: 8.317

8.  Peripheral Blood Lymphocyte Phenotype Differentiates Secondary Antibody Deficiency in Rheumatic Disease from Primary Antibody Deficiency.

Authors:  Alexandra Jablonka; Haress Etemadi; Ignatius Ryan Adriawan; Diana Ernst; Roland Jacobs; Sabine Buyny; Torsten Witte; Reinhold Ernst Schmidt; Faranaz Atschekzei; Georgios Sogkas
Journal:  J Clin Med       Date:  2020-04-07       Impact factor: 4.241

Review 9.  The Lung in Primary Immunodeficiencies: New Concepts in Infection and Inflammation.

Authors:  Ulrich Baumann; John M Routes; Pere Soler-Palacín; Stephen Jolles
Journal:  Front Immunol       Date:  2018-08-08       Impact factor: 7.561

10.  The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.

Authors:  Svetlana O Sharapova; Małgorzata Skomska-Pawliszak; Yulia A Rodina; Beata Wolska-Kuśnierz; Nel Dabrowska-Leonik; Bozena Mikołuć; Olga E Pashchenko; Srdjan Pasic; Tomáš Freiberger; Tomáš Milota; Renata Formánková; Anna Szaflarska; Maciej Siedlar; Tadej Avčin; Gašper Markelj; Peter Ciznar; Krzysztof Kalwak; Sylwia Kołtan; Teresa Jackowska; Katarzyna Drabko; Alenka Gagro; Małgorzata Pac; Elissaveta Naumova; Snezhina Kandilarova; Katarzyna Babol-Pokora; Dzmitry S Varabyou; Barbara H Barendregt; Elena V Raykina; Tatiana V Varlamova; Anna V Pavlova; Hana Grombirikova; Maruša Debeljak; Irina V Mersiyanova; Anastasiia V Bondarenko; Liudmyla I Chernyshova; Larysa V Kostyuchenko; Marina N Guseva; Jelena Rascon; Audrone Muleviciene; Egle Preiksaitiene; Christoph B Geier; Alexander Leiss-Piller; Yasuhiro Yamazaki; Tomoki Kawai; Jolan E Walter; Irina V Kondratenko; Anna Šedivá; Mirjam van der Burg; Natalia B Kuzmenko; Luigi D Notarangelo; Ewa Bernatowska; Olga V Aleinikova
Journal:  Front Immunol       Date:  2020-06-10       Impact factor: 7.561

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