Literature DB >> 27130863

Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.

Amy P Hsu1, Robert R West2, Katherine R Calvo3, Jennifer Cuellar-Rodriguez4, Mark Parta5, Susan J Kelly6, Nancy J Ganson6, Michael S Hershfield7, Steven M Holland1, Dennis D Hickstein8.   

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Year:  2016        PMID： 27130863      PMCID： PMC4975951          DOI： 10.1016/j.jaci.2016.03.016

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


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  9 in total

1.  Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Authors:  Amy P Hsu; Elizabeth P Sampaio; Javed Khan; Katherine R Calvo; Jacob E Lemieux; Smita Y Patel; David M Frucht; Donald C Vinh; Roger D Auth; Alexandra F Freeman; Kenneth N Olivier; Gulbu Uzel; Christa S Zerbe; Christine Spalding; Stefania Pittaluga; Mark Raffeld; Douglas B Kuhns; Li Ding; Michelle L Paulson; Beatriz E Marciano; Juan C Gea-Banacloche; Jordan S Orange; Jennifer Cuellar-Rodriguez; Dennis D Hickstein; Steven M Holland
Journal:  Blood       Date:  2011-06-13       Impact factor: 22.113

2.  Mutant ADA2 in vasculopathies.

Authors:  Joris van Montfrans; Andrey Zavialov; Qing Zhou
Journal:  N Engl J Med       Date:  2014-07-31       Impact factor: 91.245

3.  Early-onset stroke and vasculopathy associated with mutations in ADA2.

Authors:  Qing Zhou; Dan Yang; Amanda K Ombrello; Andrey V Zavialov; Camilo Toro; Anton V Zavialov; Deborah L Stone; Jae Jin Chae; Sergio D Rosenzweig; Kevin Bishop; Karyl S Barron; Hye Sun Kuehn; Patrycja Hoffmann; Alejandra Negro; Wanxia L Tsai; Edward W Cowen; Wuhong Pei; Joshua D Milner; Christopher Silvin; Theo Heller; David T Chin; Nicholas J Patronas; John S Barber; Chyi-Chia R Lee; Geryl M Wood; Alexander Ling; Susan J Kelly; David E Kleiner; James C Mullikin; Nancy J Ganson; Heidi H Kong; Sophie Hambleton; Fabio Candotti; Martha M Quezado; Katherine R Calvo; Hawwa Alao; Beverly K Barham; Anne Jones; James F Meschia; Bradford B Worrall; Scott E Kasner; Stephen S Rich; Raphaela Goldbach-Mansky; Mario Abinun; Elizabeth Chalom; Alisa C Gotte; Marilynn Punaro; Virginia Pascual; James W Verbsky; Troy R Torgerson; Nora G Singer; Timothy R Gershon; Seza Ozen; Omer Karadag; Thomas A Fleisher; Elaine F Remmers; Shawn M Burgess; Susan L Moir; Massimo Gadina; Raman Sood; Michael S Hershfield; Manfred Boehm; Daniel L Kastner; Ivona Aksentijevich
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

4.  Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.

Authors:  Tania M Gonzalez Santiago; Andrey Zavialov; Janna Saarela; Mikko Seppanen; Ann M Reed; Roshini S Abraham; Lawrence E Gibson
Journal:  JAMA Dermatol       Date:  2015-11       Impact factor: 10.282

5.  GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

Authors:  Karthik A Ganapathi; Danielle M Townsley; Amy P Hsu; Diane C Arthur; Christa S Zerbe; Jennifer Cuellar-Rodriguez; Dennis D Hickstein; Sergio D Rosenzweig; Raul C Braylan; Neal S Young; Steven M Holland; Katherine R Calvo
Journal:  Blood       Date:  2014-10-30       Impact factor: 22.113

6.  Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Authors:  Paulina Navon Elkan; Sarah B Pierce; Reeval Segel; Tom Walsh; Judith Barash; Shai Padeh; Abraham Zlotogorski; Yackov Berkun; Joseph J Press; Masha Mukamel; Isabel Voth; Philip J Hashkes; Liora Harel; Vered Hoffer; Eduard Ling; Fatos Yalcinkaya; Ozgur Kasapcopur; Ming K Lee; Rachel E Klevit; Paul Renbaum; Ariella Weinberg-Shukron; Elif F Sener; Barbara Schormair; Sharon Zeligson; Dina Marek-Yagel; Tim M Strom; Mordechai Shohat; Amihood Singer; Alan Rubinow; Elon Pras; Juliane Winkelmann; Mustafa Tekin; Yair Anikster; Mary-Claire King; Ephrat Levy-Lahad
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

7.  High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

Authors:  Marlène Pasquet; Christine Bellanné-Chantelot; Suzanne Tavitian; Naïs Prade; Blandine Beaupain; Olivier Larochelle; Arnaud Petit; Pierre Rohrlich; Christophe Ferrand; Eric Van Den Neste; Hélène A Poirel; Thierry Lamy; Marie Ouachée-Chardin; Véronique Mansat-De Mas; Jill Corre; Christian Récher; Geneviève Plat; Françoise Bachelerie; Jean Donadieu; Eric Delabesse
Journal:  Blood       Date:  2012-12-06       Impact factor: 22.113

8.  Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities.

Authors:  Pegah Poursharifi; Reza Saghiri; Mina Ebrahimi-Rad; Habibollah Nazem; Zahra Pourpak; Mostafa Moin; Sedigheh Shams
Journal:  Clin Biochem       Date:  2008-11-08       Impact factor: 3.281

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

Authors:  Lien Van Eyck; 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
Journal:  J Allergy Clin Immunol       Date:  2014-11-25       Impact factor: 10.793
  9 in total
  21 in total

1.  Successful reduced intensity hematopoietic cell transplant in a patient with deficiency of adenosine deaminase 2.

Authors:  H Hashem; A Vatsayan; A Gupta; K Nagle; M Hershfield; J Dalal
Journal:  Bone Marrow Transplant       Date:  2017-08-14       Impact factor: 5.483

2.  Outcomes of Related and Unrelated Donor Searches Among Patients with Primary Immunodeficiency Diseases Referred for Allogeneic Hematopoietic Cell Transplantation.

Authors:  Mary Joseph Acevedo; Jennifer S Wilder; Sharon Adams; Joie Davis; Corin Kelly; Dianne Hilligoss; Ellen Carroll; Bazetta Blacklock-Schuver; Kristen Cole; Elizabeth M Kang; Amy P Hsu; Christopher G Kanakry; Dimana Dimitrova; Jennifer A Kanakry
Journal:  Biol Blood Marrow Transplant       Date:  2019-04-12       Impact factor: 5.742

3.  Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.

Authors:  Sezgin Sahin; Amra Adrovic; Kenan Barut; Serdal Ugurlu; Eda Tahir Turanli; Huri Ozdogan; Ozgur Kasapcopur
Journal:  Rheumatol Int       Date:  2017-05-17       Impact factor: 2.631

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

Authors:  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
Journal:  Blood       Date:  2017-10-03       Impact factor: 22.113

Review 5.  Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.

Authors:  Hasan Hashem; Susan J Kelly; Nancy J Ganson; Michael S Hershfield
Journal:  Curr Rheumatol Rep       Date:  2017-10-05       Impact factor: 4.592

6.  Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).

Authors:  Pui Y Lee; Erinn S Kellner; Yuelong Huang; Elissa Furutani; Zhengping Huang; Wayne Bainter; Mohammed F Alosaimi; Kelsey Stafstrom; Craig D Platt; Tali Stauber; Somech Raz; Irit Tirosh; Aaron Weiss; Michael B Jordan; Christa Krupski; Despina Eleftheriou; Paul Brogan; Ali Sobh; Zeina Baz; Gerard Lefranc; Carla Irani; Sara S Kilic; Rasha El-Owaidy; M R Lokeshwar; Pallavi Pimpale; Raju Khubchandani; Eugene P Chambers; Janet Chou; Raif S Geha; Peter A Nigrovic; Qing Zhou
Journal:  J Allergy Clin Immunol       Date:  2020-01-13       Impact factor: 10.793

Review 7.  Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.

Authors:  Benzeeta Pinto; Prateek Deo; Susmita Sharma; Arshi Syal; Aman Sharma
Journal:  Clin Rheumatol       Date:  2021-03-31       Impact factor: 2.980

8.  Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency.

Authors:  Diana X Nichols-Vinueza; Mark Parta; Nirali N Shah; Jennifer M Cuellar-Rodriguez; Thomas R Bauer; Robert R West; Amy P Hsu; Katherine R Calvo; Seth M Steinberg; Luigi D Notarangelo; Steven M Holland; Dennis D Hickstein
Journal:  Br J Haematol       Date:  2021-09-27       Impact factor: 8.615

Review 9.  Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.

Authors:  Avinash Jain; Durga Prasanna Misra; Aman Sharma; Anupam Wakhlu; Vikas Agarwal; Vir Singh Negi
Journal:  Rheumatol Int       Date:  2017-10-14       Impact factor: 3.580

10.  Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure.

Authors:  Thomas F Michniacki; Mark Hannibal; Charles W Ross; David G Frame; Adam S DuVall; Rami Khoriaty; Mark T Vander Lugt; Kelly J Walkovich
Journal:  J Clin Immunol       Date:  2018-02-06       Impact factor: 8.542
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