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.
Lisa GöschlStefan WinklerJasmin DmytrusRaul Jimenez HerediaHeimo LaglerMichael RamharterClemens ScheineckerMichael BonelliKlaus SchmettererWinfried F PicklKatharina Grabmeier-PfistershammerMichael S HershfieldKaan BoztugElisabeth Förster-WaldlGuido A GualdoniPublished in: Journal of clinical immunology (2019)