Literature DB >> 24737293

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.

Nisha Garg1, Ozgur Kasapcopur, Joseph Foster, Kenan Barut, Ayşe Tekin, Osman Kızılkılıç, Mustafa Tekin.   

Abstract

UNLABELLED: Adenosine deaminase 2 (ADA2) deficiency due to CECR1 mutations is a recently defined disorder that involves systemic inflammation and vasculopathy often associated with polyarteritis nodosa. We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in CECR1.
CONCLUSION: Identification of CECR1 mutations in patients with vasculopathy may lead to earlier diagnosis of ADA2 deficiency.

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Year:  2014        PMID： 24737293     DOI： 10.1007/s00431-014-2320-8

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  5 in total

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Journal:  J Leukoc Biol       Date:  2010-05-07       Impact factor: 4.962

2.  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

3.  EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part I: Overall methodology and clinical characterisation.

Authors:  Nicolino Ruperto; Seza Ozen; Angela Pistorio; Pavla Dolezalova; Paul Brogan; David A Cabral; Ruben Cuttica; Raju Khubchandani; Daniel J Lovell; Kathleen M O'Neil; Pierre Quartier; Angelo Ravelli; Silvia M Iusan; Giovanni Filocamo; Claudia Saad Magalhães; Erbil Unsal; Sheila Oliveira; Claudia Bracaglia; Arvind Bagga; Valda Stanevicha; Silvia Magni Manzoni; Polyxeni Pratsidou; Loredana Lepore; Graciela Espada; Isabella Kone-Paut; Isabelle Kone Paut; Francesco Zulian; Patrizia Barone; Zelal Bircan; Maria del Rocio Maldonado; Ricardo Russo; Iris Vilca; Kjell Tullus; Rolando Cimaz; Gerd Horneff; Jordi Anton; Stella Garay; Susan Nielsen; Giancarlo Barbano; Alberto Martini
Journal:  Ann Rheum Dis       Date:  2010-04-13       Impact factor: 19.103

4.  Structural basis for the growth factor activity of human adenosine deaminase ADA2.

Authors:  Anton V Zavialov; Xiaodi Yu; Dorothe Spillmann; Grégoire Lauvau; Andrey V Zavialov
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5.  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
  5 in total
  24 in total

1.  Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.

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Journal:  J Clin Immunol       Date:  2016-02-27       Impact factor: 8.317

Review 2.  Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.

Authors:  Ivona Aksentijevich
Journal:  Semin Immunopathol       Date:  2015-04-10       Impact factor: 9.623

3.  A Child Diagnosed With Treatment-Resistant Polyarteritis Nodosa: Can the Clinical Diagnosis Be Different?

Authors:  Demet Alaygut; Caner Alparslan; Elif Perihan Öncel; Fatma Mutlubaş; Tunç Özdemir; Önder Yavaşcan; Belde Kasap Demir
Journal:  Arch Rheumatol       Date:  2019-04-22       Impact factor: 1.472

Review 4.  Newly recognized Mendelian disorders with rheumatic manifestations.

Authors:  Adriana Almeida de Jesus; Raphaela Goldbach-Mansky
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5.  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

Review 6.  Vasculitis: do we know more to classify better?

Authors:  Ezgi Deniz Batu; Seza Ozen
Journal:  Pediatr Nephrol       Date:  2014-12-06       Impact factor: 3.714

7.  Early-onset stroke, polyarteritis nodosa (PAN), and livedo racemosa.

Authors:  Dominique C Pichard; Amanda K Ombrello; Patrycja Hoffmann; Deborah L Stone; Edward W Cowen
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Review 8.  Diagnostic approach and current treatment options in childhood vasculitis.

Authors:  Kenan Barut; Sezgin Şahin; Amra Adroviç; Özgür Kasapçopur
Journal:  Turk Pediatri Ars       Date:  2015-12-01

Review 9.  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

10.  Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.

Authors:  A F Geraldo; R Caorsi; D Tortora; C Gandolfo; R Ammendola; M Alessio; G Conti; A Insalaco; S Pastore; S Martino; I Ceccherini; S Signa; M Gattorno; A Rossi; M Severino
Journal:  AJNR Am J Neuroradiol       Date:  2021-02-25       Impact factor: 3.825
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