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Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort

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 fami...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10499949/
https://www.ncbi.nlm.nih.gov/pubmed/37277582
http://dx.doi.org/10.1007/s10875-023-01521-8