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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Bibliographic Details
Published in:	Journal of clinical immunology Vol. 40; no. 1; pp. 223 - 226
Main Authors:	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:	Journal Article
Language:	English
Published:	New York Springer US 2020 Springer Nature B.V
Subjects:	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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Bibliography:	SourceType-Other Sources-1 ObjectType-Article-2 content type line 63 ObjectType-Correspondence-1
ISSN:	0271-9142 1573-2592
DOI:	10.1007/s10875-019-00700-w