2025
Immune dysregulation in glycogen storage disease 1b extends beyond neutropenia
Gehlhaar A, Shouval D, Santiago E, Ling G, McCourt B, Werner L, Yerushalmi B, Konnikova L. Immune dysregulation in glycogen storage disease 1b extends beyond neutropenia. Human Immunology 2025, 86: 111268. PMID: 40037121, DOI: 10.1016/j.humimm.2025.111268.Peer-Reviewed Original ResearchGlycogen storage disease type 1bGlycogen storage disease type 1b patientsImpaired immune cell traffickingClassic treatment strategiesUpregulation of CXCR3Effector memory phenotypeT cell populationsNatural killer cellsSystems immunology approachNon-classical monocytesImmune cell traffickingGlycogen storage disease 1bImmune defectsMemory phenotypeMultiple T cell populationsImmune landscapeRecurrent infectionsKiller cellsImmune dysregulationImmune impairmentImmunophenotypic characterizationSLC37A4 geneControl subjectsTreatment strategiesNeutrophil numbers
2019
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant
Kurolap A, Eshach Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M, Mitsialis V, Mory A, Nunberg MY, Wall S, Shaoul R, Overton JD, Shuldiner A, Zohar Y, Paperna T, Snapper S, Shouval D, Baris Feldman H. A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant. Journal Of Clinical Immunology 2019, 39: 430-439. PMID: 31079270, DOI: 10.1007/s10875-019-00631-6.Peer-Reviewed Original ResearchMeSH KeywordsAge of OnsetAmino Acid SequenceChildChild, PreschoolColitisDNA Mutational AnalysisEnteritisEosinophiliaExome SequencingGastritisGenetic Association StudiesGenetic Predisposition to DiseaseHomozygoteHumansImmunohistochemistryImmunophenotypingMaleMicrofilament ProteinsModels, MolecularMutationPhenotypeStructure-Activity RelationshipConceptsWhole-exome sequencingImmunological workupWestern blotRecurrent infectionsGastrointestinal diseasesCyTOF analysisRegulatory T cell frequencyEosinophilic gastrointestinal diseasesEosinophilic gastrointestinal disordersT cell frequenciesUlcerative colitis patientsAdaptive immune cellsEvidence of recurrentSigns of immunodeficiencyT cell proliferationT-cell studiesColitis patientsChronic diarrheaImmunodeficiency syndromeTreg generationGastrointestinal disordersImmunological phenotypeImmune populationsImmune cellsSevere infections
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