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

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Veröffentlicht in:	Journal of clinical immunology 2020, Vol.40 (1), p.223-226
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Deaminase - deficiency Adenosine Deaminase - genetics Agammaglobulinemia - genetics Biomedical and Life Sciences Biomedicine Dimerization Female Genotype Genotypes Humans Immunology Infectious Diseases Intercellular Signaling Peptides and Proteins - deficiency Intercellular Signaling Peptides and Proteins - genetics Internal Medicine Letter to Editor Medical Microbiology Missense mutation Mutation, Missense - genetics Neutropenia Neutropenia - genetics Oral Ulcer - genetics Phenotype Phenotypes Severe Combined Immunodeficiency - genetics Ulcers
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