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
2021
Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia
Konnikova L, Robinson TO, Owings AH, Shirley JF, Davis E, Tang Y, Wall S, Li J, Hasan MH, Gharaibeh RZ, Mendoza Alvarez LB, Ryan LK, Doty A, Chovanec JF, O'Connell MP, Grunes DE, Daley WP, Mayer E, Chang L, Liu J, Snapper SB, Milner JD, Glover SC, Lyons JJ. Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia. Journal Of Allergy And Clinical Immunology 2021, 148: 813-821.e7. PMID: 33865872, PMCID: PMC9017395, DOI: 10.1016/j.jaci.2021.04.004.Peer-Reviewed Original ResearchConceptsClass-switched memory B cellsMemory B cellsB cellsSyndrome cohortCell pyroptosisFunctional GI diseasesQuiescent Crohn's diseaseSmall intestinal immunopathologySubclinical intestinal inflammationFunctional gastrointestinal symptomsMast cell numbersTissue mast cellsExpression of CD203cBasal serum tryptaseElevated basal serum tryptaseIntestinal immunopathologyGastrointestinal symptomsImmunologic findingsIntestinal inflammationCrohn's diseaseHLA-DRSmall bowelGI diseaseIgG reactiveImmunologic characteristics