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Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.
Göschl, Lisa; Winkler, Stefan; Dmytrus, Jasmin; Heredia, Raul Jimenez; Lagler, Heimo; Ramharter, Michael; Scheinecker, Clemens; Bonelli, Michael; Schmetterer, Klaus; Pickl, Winfried F; Grabmeier-Pfistershammer, Katharina; Hershfield, Michael S; Boztug, Kaan; Förster-Waldl, Elisabeth; Gualdoni, Guido A.
Afiliação
  • Göschl L; Division of Rheumatology, Department of Medicine III, Medical University of Vienna, Vienna, Austria.
  • Winkler S; Division of Infectious Diseases and Tropical Medicine, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
  • Dmytrus J; CeMM Research Center for Molecular Medicine of the Austrian Academy of Science, Vienna, Austria.
  • Heredia RJ; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Lagler H; CeMM Research Center for Molecular Medicine of the Austrian Academy of Science, Vienna, Austria.
  • Ramharter M; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Scheinecker C; Division of Infectious Diseases and Tropical Medicine, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
  • Bonelli M; Division of Infectious Diseases and Tropical Medicine, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
  • Schmetterer K; Department of Tropical Medicine, Bernhard Nocht Institute for Tropical Medicine, Hamburg, Germany.
  • Pickl WF; First Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Grabmeier-Pfistershammer K; Division of Rheumatology, Department of Medicine III, Medical University of Vienna, Vienna, Austria.
  • Hershfield MS; Division of Rheumatology, Department of Medicine III, Medical University of Vienna, Vienna, Austria.
  • Boztug K; Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
  • Förster-Waldl E; Institute of Immunology, Centre of Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria.
  • Gualdoni GA; Institute of Immunology, Centre of Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria.
J Clin Immunol ; 40(1): 223-226, 2020 01.
Article em En | MEDLINE | ID: mdl-31686313
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Adenosina Desaminase / Úlceras Orais / Mutação de Sentido Incorreto / Peptídeos e Proteínas de Sinalização Intercelular / Neutropenia Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Adenosina Desaminase / Úlceras Orais / Mutação de Sentido Incorreto / Peptídeos e Proteínas de Sinalização Intercelular / Neutropenia Idioma: En Ano de publicação: 2020 Tipo de documento: Article