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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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Principais autores: João Farela Neves, Rainer Doffinger, Gabriela Barcena-Morales, Catarina Martins, Olivier Papapietro, Vincent Plagnol, James Curtis, Marta Martins, Dinakantha Kumararatne, Ana Isabel Cordeiro, Conceição Neves, Luis Miguel Borrego, Matilda Katan, Sergey Nejentsev
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Immunology
Assuntos:
APLAID
PLCγ2
cutis laxa
sensorineural deafness
IL-10
IL-1b
Acceso en liña:https://www.frontiersin.org/article/10.3389/fimmu.2018.02863/full
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