Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency

We present here a novel case of an atypical Omenn syndrome (OS) phenotype due to mutations in the ADA gene encoding adenosine deaminase. This case is noteworthy for a significant increase in circulating CD56(bright)CD16- cytokine-producing NK cells after treatment with steroids for skin rash.

Detalles Bibliográficos
Autores principales: Joshi, Avni Y., Ham, Erin K., Shah, Neel B., Dong, Xiangyang, Khan, Shakila P., Abraham, Roshini S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412092/
https://www.ncbi.nlm.nih.gov/pubmed/25954555
http://dx.doi.org/10.1155/2012/919241

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412092/
https://www.ncbi.nlm.nih.gov/pubmed/25954555
http://dx.doi.org/10.1155/2012/919241

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