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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 Gualdoni
Published in: Journal of clinical immunology (2019)
Keyphrases
  • case report
  • intellectual disability
  • early onset
  • replacement therapy
  • chemotherapy induced
  • wound healing
  • drug induced