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.

Journal Article (Letter)

Full Text

Duke Authors

Cited Authors

  • Göschl, L; Winkler, S; Dmytrus, J; Heredia, RJ; Lagler, H; Ramharter, M; Scheinecker, C; Bonelli, M; Schmetterer, K; Pickl, WF; Grabmeier-Pfistershammer, K; Hershfield, MS; Boztug, K; Förster-Waldl, E; Gualdoni, GA

Published Date

  • January 2020

Published In

Volume / Issue

  • 40 / 1

Start / End Page

  • 223 - 226

PubMed ID

  • 31686313

Electronic International Standard Serial Number (EISSN)

  • 1573-2592

Digital Object Identifier (DOI)

  • 10.1007/s10875-019-00700-w


  • eng

Conference Location

  • Netherlands