Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

Background: The auto-inflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency and immune dysregulation (APLAID) syndrome is a rare primary immunodeficiency caused by a gain-of-function mutation S707Y in the PLCG2 gene previously described in two patients from one family. The APLAID...

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Detalles Bibliográficos
Autores principales: Neves, João Farela, Doffinger, Rainer, Barcena-Morales, Gabriela, Martins, Catarina, Papapietro, Olivier, Plagnol, Vincent, Curtis, James, Martins, Marta, Kumararatne, Dinakantha, Cordeiro, Ana Isabel, Neves, Conceição, Borrego, Luis Miguel, Katan, Matilda, Nejentsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302768/
https://www.ncbi.nlm.nih.gov/pubmed/30619256
http://dx.doi.org/10.3389/fimmu.2018.02863

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302768/
https://www.ncbi.nlm.nih.gov/pubmed/30619256
http://dx.doi.org/10.3389/fimmu.2018.02863

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