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Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa
2018
Frontiers in Immunology
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 patients presented with early-onset blistering skin lesions, posterior uveitis, inflammatory bowel disease (IBD) and recurrent sinopulmonary infections caused by a humoral defect, but lacked circulating
doi:10.3389/fimmu.2018.02863
pmid:30619256
pmcid:PMC6302768
fatcat:ga5qw6epyfg3vh5zw6b652z7uq