PMC Links for Books (Select 4814912) - PMC

Select item 73729501.

Treatment Strategies for Deficiency of Adenosine Deaminase 2

Amanda K. Ombrello, Jing Qin, Patrycja M. Hoffmann, Parag Kumar, Deborah Stone, Anne Jones, Tina Romeo, Beverly Barham, Gineth Pinto-Patarroyo, Camilo Toro, Ariane Soldatos, Qing Zhou, Natalie Deuitch, Ivona Aksentijevich, Sherry L. Sheldon, Susan Kelly, Ada Man, Karyl Barron, Michael Hershfield, Willy A. Flegel, Daniel L. Kastner

N Engl J Med. Author manuscript; available in PMC 2020 Jul 21.

Published in final edited form as: N Engl J Med. 2019 Apr 18; 380(16): 1582–1584. doi: 10.1056/NEJMc1801927

PMCID:: PMC7372950

Article PDF–113K

Select item 66592532.

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2

Carmelo Carmona-Rivera, Sami S. Khaznadar, Kyawt W. Shwin, Jorge A. Irizarry-Caro, Liam J. O’Neil, Yudong Liu, Kenneth A. Jacobson, Amanda K. Ombrello, Deborah L. Stone, Wanxia L. Tsai, Daniel L. Kastner, Ivona Aksentijevich, Mariana J. Kaplan, Peter C. Grayson

Blood. 2019 Jul 25; 134(4): 395–406. Prepublished online 2019 Apr 23. doi: 10.1182/blood.2018892752

PMCID:: PMC6659253

Abstract Article

Select item 63399273.

ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation

Federica Barzaghi, Federica Minniti, Margherita Mauro, Massimiliano De Bortoli, Rita Balter, Elisa Bonetti, Ada Zaccaron, Virginia Vitale, Maryam Omrani, Matteo Zoccolillo, Immacolata Brigida, Maria Pia Cicalese, Massimo Degano, Michael S. Hershfield, Alessandro Aiuti, Anastasiia V. Bondarenko, Matteo Chinello, Simone Cesaro

Front Immunol. 2018; 9: 2767. Published online 2019 Jan 14. doi: 10.3389/fimmu.2018.02767

PMCID:: PMC6339927

Abstract Article PDF–1.0M

Select item 62009554.

Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2

Pui Y. Lee

Front Pediatr. 2018; 6: 282. Published online 2018 Oct 18. doi: 10.3389/fped.2018.00282

PMCID:: PMC6200955

Abstract Article PDF–714K

Select item 61890895.

Genetic testing for DADA2: How can we avoid missing patients?

Hafize Emine Sönmez, Ezgi Deniz Batu, Ekim Z. Taşkıran, Mehmet Alikaşifoğlu, Yelda Bilginer, Seza Özen

Eur J Hum Genet. 2018 Nov; 26(11): 1563–1565. Published online 2018 Sep 11. doi: 10.1038/s41431-018-0240-1

PMCID:: PMC6189089

Article PDF–284K

Select item 61756126.

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2

Pui Y. Lee, Yuelong Huang, Qing Zhou, Oskar Schnappauf, Michael S. Hershfield, Ying Li, Nancy J. Ganson, Natalia Sampaio Moura, Ottavia M. Delmonte, Scellig S. Stone, Michael J. Rivkin, Sung-Yun Pai, Todd Lyons, Robert P. Sundel, Victor W. Hsu, Luigi D. Notarangelo, Ivona Aksentijevich, Peter A. Nigrovic

J Allergy Clin Immunol. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: J Allergy Clin Immunol. 2018 Oct; 142(4): 1363–1365.e8. Published online 2018 Jun 21. doi: 10.1016/j.jaci.2018.05.038

PMCID:: PMC6175612

Abstract Article PDF–414K

Select item 60611007.

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment

Isabelle Meyts, Ivona Aksentijevich

J Clin Immunol. 2018; 38(5): 569–578. Published online 2018 Jun 27. doi: 10.1007/s10875-018-0525-8

PMCID:: PMC6061100

Abstract Article PDF–597K

Select item 60186718.

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Mélanie Rama, Claire Duflos, Isabelle Melki, Didier Bessis, Axelle Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Genevieve, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel-Moranne, Nathalie Tieulie, Jonathan London, Florence Uettwiller, Sophie Georgin-Lavialle, Alexandre Belot, Isabelle Koné-Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay

Eur J Hum Genet. 2018 Jul; 26(7): 960–971. Published online 2018 Apr 23. doi: 10.1038/s41431-018-0130-6

PMCID:: PMC6018671

Abstract Article PDF–1018K

Select item 60105169.

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences

Jason Michael Springer, Selina A. Gierer, Hong Jiang, David Kleiner, Natalie Deuitch, Amanda K. Ombrello, Peter C. Grayson, Ivona Aksentijevich

Front Immunol. 2018; 9: 1361. Published online 2018 Jun 14. doi: 10.3389/fimmu.2018.01361

PMCID:: PMC6010516

Abstract Article PDF–869K

Select item 573108910.

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2

Hasan Hashem, Ashish R. Kumar, Ingo Müller, Florian Babor, Robbert Bredius, Jignesh Dalal, Amy P. Hsu, Steven M. Holland, Dennis D. Hickstein, Stephen Jolles, Robert Krance, Ghadir Sasa, Mervi Taskinen, Minna Koskenvuo, Janna Saarela, Joris van Montfrans, Keith Wilson, Barbara Bosch, Leen Moens, Michael Hershfield, Isabelle Meyts

Blood. 2017 Dec 14; 130(24): 2682–2688. Prepublished online 2017 Oct 3. doi: 10.1182/blood-2017-07-798660

PMCID:: PMC5731089

Abstract Article

Select item 556837411.

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

Andrea Skrabl-Baumgartner, Barbara Plecko, Wolfgang M. Schmidt, Nadja König, Michael Hershfield, Ursula Gruber-Sedlmayr, Min Ae Lee-Kirsch

Pediatr Rheumatol Online J. 2017; 15: 67. Published online 2017 Aug 22. doi: 10.1186/s12969-017-0193-x

PMCID:: PMC5568374

Abstract Article PDF–685K

Select item 501526212.

Monogenic polyarteritis: the lesson of ADA2 deficiency

Roberta Caorsi, Federica Penco, Francesca Schena, Marco Gattorno

Pediatr Rheumatol Online J. 2016; 14(1): 51. Published online 2016 Sep 8. doi: 10.1186/s12969-016-0111-7

PMCID:: PMC5015262

Abstract Article PDF–1.0M

Select item 497595113.

Adenosine deaminase type 2 deficiency (ADA2) masquerading as GATA2 deficiency: successful hematopoietic stem cell transplantation

Amy P. Hsu, Robert R. West, Katherine R. Calvo, Jennifer Cuellar-Rodriguez, Mark Parta, Susan J. Kelly, Nancy J. Ganson, Michael S. Hershfield, Steven M. Holland, Dennis D. Hickstein

J Allergy Clin Immunol. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: J Allergy Clin Immunol. 2016 Aug; 138(2): 628–630.e2. Published online 2016 Apr 6. doi: 10.1016/j.jaci.2016.03.016

PMCID:: PMC4975951

Article PDF–347K

Select item 487933714.

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

F Uettwiller, G Sarrabay, M P Rodero, G I Rice, E Lagrue, Y Marot, K Deiva, I Touitou, Y J Crow, P Quartier

RMD Open. 2016; 2(1): e000236. Published online 2016 May 16. doi: 10.1136/rmdopen-2015-000236

PMCID:: PMC4879337

Abstract Article PDF–1.3M

Select item 428272415.

Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency

Lien Van Eyck, Jr., Michael S. Hershfield, Diana Pombal, Susan J. Kelly, Nancy J. Ganson, Leen Moens, Glynis Frans, Heidi Schaballie, Gert De Hertogh, James Dooley, Xavier Bossuyt, Carine Wouters, Adrian Liston, Isabelle Meyts

J Allergy Clin Immunol. 2015 Jan; 135(1): 283–287.e5. doi: 10.1016/j.jaci.2014.10.010

PMCID:: PMC4282724

Article

Select item 419368316.

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Q. Zhou, D. Yang, A.K. Ombrello, Andrey V. Zavialov, C. Toro, Anton V. Zavialov, D.L. Stone, J.J. Chae, S.D. Rosenzweig, K. Bishop, K.S. Barron, H.S. Kuehn, P. Hoffmann, A. Negro, W.L. Tsai, E.W. Cowen, W. Pei, J.D. Milner, C. Silvin, T. Heller, D.T. Chin, N.J. Patronas, J.S. Barber, C.-C.R. Lee, G.M. Wood, A. Ling, S.J. Kelly, D.E. Kleiner, J.C. Mullikin, N.J. Ganson, H.H. Kong, S. Hambleton, F. Candotti, M.M. Quezado, K.R. Calvo, H. Alao, B.K. Barham, A. Jones, J.F. Meschia, B.B. Worrall, S.E. Kasner, S.S. Rich, R. Goldbach-Mansky, M. Abinun, E. Chalom, A.C. Gotte, M. Punaro, V. Pascual, J.W. Verbsky, T.R. Torgerson, N.G. Singer, T.R. Gershon, S. Ozen, O. Karadag, T.A. Fleisher, E.F. Remmers, S.M. Burgess, S.L. Moir, M. Gadina, R. Sood, M.S. Hershfield, M. Boehm, D.L. Kastner, I. Aksentijevich

N Engl J Med. Author manuscript; available in PMC 2014 Oct 10.

Published in final edited form as: N Engl J Med. 2014 Mar 6; 370(10): 911–920. Published online 2014 Feb 19. doi: 10.1056/NEJMoa1307361

PMCID:: PMC4193683

Abstract Article PDF–1.4M

Select item 418135517.

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

Alexandre Belot, Evangeline Wassmer, Marinka Twilt, Jean-Christophe Lega, Leo AH Zeef, Anthony Oojageer, Paul R Kasher, Anne-Laure Mathieu, Christophe Malcus, Julie Demaret, Nicole Fabien, Sophie Collardeau-Frachon, Laura Mechtouff, Laurent Derex, Thierry Walzer, Gillian I Rice, Isabelle Durieu, Yanick J Crow

Pediatr Rheumatol Online J. 2014; 12: 44. Published online 2014 Sep 24. doi: 10.1186/1546-0096-12-44

PMCID:: PMC4181355

Abstract Article PDF–779K

Select item 285297518.

Structural Basis for the Growth Factor Activity of Human Adenosine Deaminase ADA2

Anton V. Zavialov, Xiaodi Yu, Dorothe Spillmann, Grégoire Lauvau, Andrey V. Zavialov

J Biol Chem. 2010 Apr 16; 285(16): 12367–12377. Published online 2010 Feb 9. doi: 10.1074/jbc.M109.083527

PMCID:: PMC2852975

Abstract Article PDF–4.5M

Select item 12366019.

Adenosine deaminase-related growth factors stimulate cell proliferation in Drosophila by depleting extracellular adenosine

Michal Zurovec, Tomas Dolezal, Michal Gazi, Eva Pavlova, Peter J. Bryant

Proc Natl Acad Sci U S A. 2002 Apr 2; 99(7): 4403–4408. Published online 2002 Mar 19. doi: 10.1073/pnas.062059699

PMCID:: PMC123660

Abstract Article PDF–332K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 19

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity