2023
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
Baysac K, Sun G, Nakano H, Schmitz E, Cruz A, Fisher C, Bailey A, Group P, Abbott J, Becerra J, Allenspach E, Assing K, Atkinson T, Bargir U, Baxter S, Bergerson J, Bista R, Blanche S, Buckley L, Butte M, Carcamo B, Chandrakala S, Chen K, Chervinskiy S, Chinn I, Chong H, Coffey K, Copland A, Cowen E, Cros G, De Bruycker J, de la Morena M, Ehlayel M, Satter L, Gelfand E, Gilliaux O, Glover S, Gorman M, Griffin T, Grimbacher B, Gru A, Haddad E, Hadjadj J, Hajjar J, Hauck F, Hautala T, Holland S, Hsieh E, Hsu F, Jacquemin E, Jindal A, Kahn S, Keller M, Kobayashi R, Krupski C, Larkin A, Lawrence M, Madkaikar M, Malphettes M, Martelius, Mehta M, Metcalfe D, Meyts I, Nannapaneni N, Vinyals J, Olivier K, Ombrello A, Orange J, Rabinovitch N, Rauscher C, Redfern A, Reynolds P, Rieux-Laucat F, Secord E, Seeborg F, Seppänen M, Sereti I, Shin D, Shin J, Snapper S, Suri D, Tangcheewinsirikul S, Thatayatikom A, Torgerson T, Touzot F, Uzel G, Varjosalo M, Vasconcelos D, von Bernuth H, Walsh T, Walter J, Ward B, Wittkowski H, Wysocki C, Mace E, Milner J, Ombrello M. PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants. Journal Of Allergy And Clinical Immunology 2023, 153: 230-242. PMID: 37769878, PMCID: PMC11337301, DOI: 10.1016/j.jaci.2023.08.036.Peer-Reviewed Original ResearchConceptsImmune dysregulationPhospholipase C gamma 2Gain of functionB cellsNatural killer cell dysfunctionCalcium fluxLoF variantsNatural killer cellsHumoral immune deficiencyDistinct clinical presentationsPrimary patient cellsExtracellular signal-regulated kinase (ERK) phosphorylationB cell activationSignal-regulated kinase phosphorylationPLCG2 mutationsAntibody deficiencyKiller cellsClinical presentationImmune deficiencyCell dysfunctionClinical dataStandardized questionnaireFunctional alterationsSporadic casesPathogenic variants
2020
Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum
Shin JJ, Liauw D, Siddiqui S, Lee J, Chung EJ, Steele R, Hsu FI, Price C, Kang I. Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum. Journal Of Clinical Immunology 2020, 40: 592-601. PMID: 32239366, PMCID: PMC7260109, DOI: 10.1007/s10875-020-00773-y.Peer-Reviewed Original ResearchConceptsCommon variable immunodeficiencyInterstitial lung diseasePrimary antibody deficiencyConnective tissue diseaseAntibody deficiencyLow NK cell countHematopoietic malignanciesNon-infectious complicationsNon-infectious manifestationsNK cell countsNatural killer cellsPneumococcal vaccine responsesElectronic medical recordsResultsAll patientsImmune alterationsVaccine responsesKiller cellsTissue diseaseImmunoglobulin levelsVariable immunodeficiencyLung diseasePAD groupIgG deficiencyImmunological profileMedical records