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...
Main Authors: | , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2018-12-01
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Series: | Frontiers in Immunology |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fimmu.2018.02863/full |