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

Delia Nicoară, Cristina Niță,Ana Stanilă,Alexandru Martiniuc,Laura Popa, Eliana Petrescu, Mihaela Bătăneant,Ruxandra Ciofu,Adriana Guriță,Radu Tabăcaru, Ruxandra Ionescu,Laura Groșeanu

Immunity, inflammation and disease（2023）

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Abstract

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.

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Key words

new cecr1 mutation,severe hematological involvement

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