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

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.

Afiliación

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 en En | MEDLINE | ID: mdl-31686313

Asunto(s)

Adenosina Desaminasa/deficiencia; Adenosina Desaminasa/genética; Péptidos y Proteínas de Señalización Intercelular/deficiencia; Péptidos y Proteínas de Señalización Intercelular/genética; Mutación Missense/genética; Neutropenia/genética; Úlceras Bucales/genética; Agammaglobulinemia/genética; Dimerización; Femenino; Genotipo; Humanos; Fenotipo; Inmunodeficiencia Combinada Grave/genética

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Adenosina Desaminasa / Úlceras Bucales / Mutación Missense / Péptidos y Proteínas de Señalización Intercelular / Neutropenia Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: J Clin Immunol Año: 2020 Tipo del documento: Article País de afiliación: Austria

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