{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11(15)"],"submitter":["Welzel T"],"pubmed_abstract":["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 patie"],"journal":["Journal of clinical medicine"],"pagination":["4369"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9368933"],"repository":["biostudies-literature"],"pubmed_title":["Variant in the <i>PLCG2</i> Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review."],"pmcid":["PMC9368933"],"pubmed_authors":["Kuemmerle-Deschner JB","Haack TB","Groβ M","Muller A","Welzel T","Menden B","Oefelein L","Holzer U"],"additional_accession":[]},"is_claimable":false,"name":"Variant in the <i>PLCG2</i> Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.","description":"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 patie","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jul","modification":"2026-04-08T10:09:59.505Z","creation":"2024-10-18T22:39:13.811Z"},"accession":"S-EPMC9368933","cross_references":{"pubmed":["35955991"],"doi":["10.3390/jcm11154369"]}}