A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency.

Delia NicoarăCristina NițăAna StanilăAlexandru MartiniucLaura PopaEliana PetrescuMihaela BătăneantRuxandra CiofuAdriana GurițăRadu TabăcaruRuxandra IonescuLaura Groșeanu

Published in: Immunity, inflammation and disease (2023)

We present a case of DADA2 deficiency with disease onset at 3 years old, not recognized till the age of 18 with severe gastrointestinal vasculitis and recurrent episodes of neutropenia associated with a new CECR1 mutation.

Keyphrases

early onset
replacement therapy
drug induced