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A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.

Ilaria MaccoraValerio ManiscalcoSilvia CampaniSimona CarreraGiulia AbbatiEdoardo MarraniMaria Vincenza MastroliaGabriele Simonini
Published in: Orphanet journal of rare diseases (2023)
Due to this highly variable phenotype and age of presentation, patients with DADA2 may present to several type of specialists. Given the important morbidity and mortality, early diagnosis and treatment are mandatory.
Keyphrases
  • case report