Cargando…
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...
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 |
Ejemplares similares
-
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
por: Van Montfrans, J, et al.
Publicado: (2015) -
Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening
por: de Pagter, Anne P. J., et al.
Publicado: (2015) -
Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review
por: Yska, Hemmo A. F., et al.
Publicado: (2019) -
Dadá : documentos
Publicado: (1977) -
Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency
por: Smits, Bas M., et al.
Publicado: (2020)