biostudies-literatureUnknown11(15)Welzel TBackground: Variants in the phospholipase C gamma 2 (PLCG2) gene can cause PLCG2-associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) syndrome. Linking the clinical phenotype with the genotype is relevant in making the final diagnosis. Methods: This is a single center case series of five related patients (4−44 years), with a history of autoinflammation and immune dysregulation. Clinical and laboratory characteristics were recorded and a literature review of APLAID/PLAID was performed. Results: All patients had recurrent fevers, conjunctivitis, lymphadenopathy, headaches, myalgia, abdominal pain, cold-induced urticaria and recurrent airway infections. Hearing loss was detected in two patieJournal of clinical medicine4369https://www.ebi.ac.uk/biostudies/studies/S-EPMC9368933biostudies-literatureVariant in the <i>PLCG2</i> Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.PMC9368933Kuemmerle-Deschner JBHaack TBGroβ MMuller AWelzel TMenden BOefelein LHolzer UfalseVariant in the <i>PLCG2</i> Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.Background: Variants in the phospholipase C gamma 2 (PLCG2) gene can cause PLCG2-associated antibody deficiency and immune dysregulation (PLAID)/autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) syndrome. Linking the clinical phenotype with the genotype is relevant in making the final diagnosis. Methods: This is a single center case series of five related patients (4−44 years), with a history of autoinflammation and immune dysregulation. Clinical and laboratory characteristics were recorded and a literature review of APLAID/PLAID was performed. Results: All patients had recurrent fevers, conjunctivitis, lymphadenopathy, headaches, myalgia, abdominal pain, cold-induced urticaria and recurrent airway infections. Hearing loss was detected in two patie2022-01-01T00:00:00Z2022 Jul2026-04-08T10:09:59.505Z2024-10-18T22:39:13.811ZS-EPMC93689333595599110.3390/jcm11154369