ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

The objective of this paper is to: describe the phenotype compound heterozygote for mutations in CECR1 in two children. We describe the clinical and immunological phenotype, including the assessment of ADA2 activity, cytokine expression, interferon-stimulated and neutrophil-stimulated gene signature...

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Detalles Bibliográficos
Autores principales: Uettwiller, F, Sarrabay, G, Rodero, M P, Rice, G I, Lagrue, E, Marot, Y, Deiva, K, Touitou, I, Crow, Y J, Quartier, P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Paediatric Rheumatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879337/
https://www.ncbi.nlm.nih.gov/pubmed/27252897
http://dx.doi.org/10.1136/rmdopen-2015-000236

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879337/
https://www.ncbi.nlm.nih.gov/pubmed/27252897
http://dx.doi.org/10.1136/rmdopen-2015-000236

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