Article
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.
Journal of clinical immunology - 1 Oct 2023
Andriessen Marie Valérie E, Legger G Elizabeth, Bredius Robbert G M, van Gijn Marielle E, Hak A Elisabeth, Muller Petra C E Hissink, Kamphuis Sylvia, Klouwer Femke C C, Kuijpers Taco W, Leavis Helen L, Nierkens Stefan, Rutgers Abraham, van der Veken Lars T, van Well Gijs T J, Mulders-Manders Catharina M, van Montfrans Joris M
Abstract excerpt
Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory disease with an extremely variable disease presentation. This paper provides a comprehensive overview of the Dutch DADA2 cohort. We performed a retrospective cohort study in 29 ADA2-deficient patients from 23 families with a median age at inclusion of 26 years. All patients had biallelic pathogenic variants in the ADA2 gene....
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