Cargando…
Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences
OBJECTIVE: Describe the clinical characteristics and histopathology findings in a family with two siblings affected with deficiency of adenosine deaminase 2 (DADA2). Both patients presented in childhood with polyarthritis and developed significant neurological and gastrointestinal features of DADA2...
Autores principales: | Springer, Jason Michael, Gierer, Selina A., Jiang, Hong, Kleiner, David, Deuitch, Natalie, Ombrello, Amanda K., Grayson, Peter C., Aksentijevich, Ivona |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010516/ https://www.ncbi.nlm.nih.gov/pubmed/29963054 http://dx.doi.org/10.3389/fimmu.2018.01361 |
Ejemplares similares
-
Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings
por: Guo, Li, et al.
Publicado: (2021) -
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment
por: Meyts, Isabelle, et al.
Publicado: (2018) -
The deficiency of adenosine deaminase type 2-results of therapeutic intervention
por: Ombrello, A, et al.
Publicado: (2015) -
The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency
por: Kendall, Jennifer Lee, et al.
Publicado: (2020) -
Clinical follow-up on a cohort of patients with deficiency of adenosine deaminase 2 (DADA2)
por: Barron, K, et al.
Publicado: (2015)