2024
“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
2020
Serum IgG4 Subclass Deficiency Defines a Distinct, Commonly Encountered, Severe Inflammatory Bowel Disease Subtype
Koutroumpakis F, Phillips AE, Yadav D, Machicado JD, Ahsan M, Rivers C, Tan X, Schwartz M, Proksell S, Johnston E, Dueker J, Hashash JG, Barrie A, Harrison J, Dunn MA, Konnikova L, Hartman DJ, Din H, Babichenko D, Tang G, Binion DG. Serum IgG4 Subclass Deficiency Defines a Distinct, Commonly Encountered, Severe Inflammatory Bowel Disease Subtype. Inflammatory Bowel Diseases 2020, 27: 855-863. PMID: 32879976, DOI: 10.1093/ibd/izaa230.Peer-Reviewed Original ResearchConceptsInflammatory bowel diseaseIgG4 subclass deficiencyIgG4 levelsSubclass deficiencyAntibody deficiencyIgG4 deficiencyDisease severitySevere inflammatory bowel diseaseHigh serum IgG4 levelsInflammatory bowel disease subtypeCD-related surgeryIg replacement therapyLow IgG4 levelsMultiple Poisson regression analysisMore hospital admissionsPrimary sclerosing cholangitisSerum IgG4 levelsCohort of patientsIgG4 serum levelsOutpatient antibiotic prescriptionsAnti-inflammatory moleculesHumoral immune responseInflammatory disease processesPoisson regression analysisElectronic health records