2025
Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity
Novotny S, Yoo N, Chen J, Granoth M, Kohli-Pamnani A, Hsu F, Rodenas M, Steele R, Kaman K, Soffer G, Price C, Kuster J, Kang I, Osmani L, Shin J. Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity. Clinical Immunology 2025, 277: 110513. PMID: 40354868, DOI: 10.1016/j.clim.2025.110513.Peer-Reviewed Original ResearchInborn errors of immunityErrors of immunityGenetic variantsInborn errorsAssociation of clinical manifestationsGene clusterGene functionStudy evaluated associationsImmune alterationsDiagnostic challengeClinical manifestationsImmunological profileGenetic testingVUSGenesImmunological characteristicsImmune functionLaboratory dataImmunityVariantsAssociationPatients
2024
GENETIC VARIANTS OF UNCERTAIN SIGNIFICANCE IN PATIENTS WITH PRESENTATIONS CONCERNING FOR INBORN ERRORS OF IMMUNITY
Novotny S, Yoo N, Granoth M, Chen J, Osmani L, Kang I, Shin J. GENETIC VARIANTS OF UNCERTAIN SIGNIFICANCE IN PATIENTS WITH PRESENTATIONS CONCERNING FOR INBORN ERRORS OF IMMUNITY. Annals Of Allergy Asthma & Immunology 2024, 133: s60. DOI: 10.1016/j.anai.2024.08.200.Peer-Reviewed Original ResearchInborn errors of immunityClinical presentationOrganelle biogenesisGenetic resultsT cellsAssociated with distinct clinical presentationInborn errors of immunity patientsGenetic testingClinical presentation of patientsDiagnosis of inborn errors of immunityImmune functionImmune thrombocytopenic purpuraReviewed electronic medical recordsT cell immunityErrors of immunityPresentation of patientsB cell immunityGene groupsCytomegalovirus infectionVariable immunodeficiencyThrombocytopenic purpuraRate of rheumatoid arthritisPediatric patientsGenetic variantsB cellsPI3Kγ in B cells promotes antibody responses and generation of antibody-secreting cells
Lanahan S, Yang L, Jones K, Qi Z, Cabrera E, Cominsky L, Ramaswamy A, Barmada A, Gabernet G, Uthaya Kumar D, Xu L, Shan P, Wymann M, Kleinstein S, Rao V, Mustillo P, Romberg N, Abraham R, Lucas C. PI3Kγ in B cells promotes antibody responses and generation of antibody-secreting cells. Nature Immunology 2024, 25: 1422-1431. PMID: 38961274, DOI: 10.1038/s41590-024-01890-1.Peer-Reviewed Original ResearchAntibody-secreting cellsMemory B cellsB cellsKinase activity-dependent mannerDifferentiation of antibody-secreting cellsAntibody responseGeneration of antibody-secreting cellsInborn errors of immunityActivity-dependent mannerMouse immunization modelFate choiceT cell-dependent antigensToll-like receptor activationTranscriptional programsB cell biologyPhosphoinositide 3-kinase-gammaErrors of immunityNaive B cellsTransduce signalsActivated B cellsB lineage cellsRobust antibody responsesHumoral defectsHumoral immunityReceptor activationCOVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report
McDonnell J, Cousins K, Younger M, Lane A, Abolhassani H, Abraham R, Al-Tamemi S, Aldave-Becerra J, Al-Faris E, Alfaro-Murillo A, AlKhater S, Alsaati N, Doss A, Anderson M, Angarola E, Ariue B, Arnold D, Assa’ad A, Aytekin C, Bank M, Bergerson J, Bleesing J, Boesing J, Bouso C, Brodszki N, Cabanillas D, Cady C, Callahan M, Caorsi R, Carbone J, Carrabba M, Castagnoli R, Catanzaro J, Chan S, Chandra S, Chapdelaine H, Chavoshzadeh Z, Chong H, Connors L, Consonni F, Correa-Jimenez O, Cunningham-Rundles C, D’Astous-Gauthier K, Delmonte O, Demirdag Y, Deshpande D, Diaz-Cabrera N, Dimitriades V, El-Owaidy R, ElGhazali G, Al-Hammadi S, Fabio G, Faure A, Feng J, Fernandez J, Fill L, Franco G, Frenck R, Fuleihan R, Giardino G, Galant-Swafford J, Gambineri E, Garabedian E, Geerlinks A, Goudouris E, Grecco O, Pan-Hammarström Q, Khani H, Hammarström L, Hartog N, Heimall J, Hernandez-Molina G, Horner C, Hostoffer R, Hristova N, Hsiao K, Ivankovich-Escoto G, Jaber F, Jalil M, Jamee M, Jean T, Jeong S, Jhaveri D, Jordan M, Joshi A, Kalkat A, Kanarek H, Kellner E, Khojah A, Khoury R, Kokron C, Kumar A, Lecerf K, Lehman H, Leiding J, Lesmana H, Lim X, Lopes J, López A, Tarquini L, Lundgren I, Magnusson J, Marinho A, Marseglia G, Martone G, Mechtler A, Mendonca L, Milner J, Mustillo P, Naderi A, Naviglio S, Nell J, Niebur H, Notarangelo L, Oleastro M, Ortega-López M, Patel N, Petrovic G, Pignata C, Porras O, Prince B, Puck J, Qamar N, Rabusin M, Raje N, Regairaz L, Risma K, Ristagno E, Routes J, Roxo-Junior P, Salemi N, Scalchunes C, Schuval S, Seneviratne S, Shankar A, Sherkat R, Shin J, Siddiqi A, Signa S, Sobh A, Lima F, Stenehjem K, Tam J, Tang M, Barros M, Verbsky J, Vergadi E, Voelker D, Volpi S, Wall L, Wang C, Williams K, Wu E, Wu S, Zhou J, Cook A, Sullivan K, Marsh R. COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report. Journal Of Clinical Immunology 2024, 44: 86. PMID: 38578389, PMCID: PMC10997719, DOI: 10.1007/s10875-023-01613-5.Peer-Reviewed Original ResearchConceptsInborn errors of immunityCOVID-19 vaccineICU admissionInborn errors of immunity patientsInborn errorsUS Immunodeficiency NetworkErrors of immunityVaccination prior to infectionLogistic regression analysisVaccine safetyAntibody deficiencyRates of hospitalizationCOVID-19 severitySymptomatic anemiaOdds of hospitalizationCOVID-19 infectionRegistry databaseMRNA-basedCOVID-19 vaccine safetyPatientsOutpatient clinicEmergency room careICU careICUVaccineHuman genetic errors of immunity illuminate an adaptive arsenal model of rapid defenses
Lucas C. Human genetic errors of immunity illuminate an adaptive arsenal model of rapid defenses. Trends In Immunology 2024, 45: 113-126. PMID: 38302340, DOI: 10.1016/j.it.2023.12.006.Peer-Reviewed Original Research“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease
Olyha S, O’Connor S, Kribis M, Bucklin M, Uthaya Kumar D, Tyler P, Alam F, Jones K, Sheikha H, Konnikova L, Lakhani S, Montgomery R, Catanzaro J, Du H, DiGiacomo D, Rothermel H, Moran C, Fiedler K, Warner N, Hoppenreijs E, van der Made C, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto J, van Rossum A, Dalm V, Muise A, Lucas C. “Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease. Journal Of Clinical Immunology 2024, 44: 44. PMID: 38231408, PMCID: PMC10929603, DOI: 10.1007/s10875-023-01610-8.Peer-Reviewed Original ResearchConceptsDEX patientsClass-switched memory B cellsInborn errors of immunityTreated with anti-inflammatory agentsLow natural killerX-linkedMemory B cellsErrors of immunityCohort of patientsIncreased inflammatory cytokinesLoss-of-function variantsHeterogeneous clinical phenotypesInflammatory bowel diseaseTargeted therapeutic interventionsNatural killerAnti-inflammatory agentsAphthous ulcersTherapeutic responseAutoinflammatory syndromeInflammatory markersClinical manifestationsB cellsBehcet's syndromeGastrointestinal symptomsMechanisms of disease
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