Featured Publications
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
Brodsky NN, Boyarchuk O, Kovalchuk T, Hariyan T, Rice A, Ji W, Khokha M, Lakhani S, Lucas CL. Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. Journal Of Human Genetics 2020, 65: 911-915. PMID: 32435055, DOI: 10.1038/s10038-020-0776-0.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAngiomatosisBrain NeoplasmsCardiomegalyChild, PreschoolExome SequencingFibrosisHeterozygoteHumansIntracellular Signaling Peptides and ProteinsLung DiseasesMaleModels, MolecularNeurodegenerative DiseasesPedigreePoint MutationProtein ConformationProtein DomainsSequence AlignmentSequence Homology, Amino AcidSyndromeConceptsWhole-exome sequencingNovel compound heterozygous variantsCompound heterozygous variantsUkrainian patientsClinical featuresNovel variantsNew patientsHealthy humansCompound heterozygous combinationPatientsHeterozygous variantsSyndromeFinnish childrenNHLRC2Sanger sequencingFibrosisDiseaseGnomAD databaseN-terminal thioredoxinCentral regulatorVariantsNeurodegeneration
2007
STAT3 Mutations in the Hyper-IgE Syndrome
Holland S, DeLeo F, Elloumi H, Hsu A, Uzel G, Brodsky N, Freeman A, Demidowich A, Davis J, Turner M, Anderson V, Darnell D, Welch P, Kuhns D, Frucht D, Malech H, Gallin J, Kobayashi S, Whitney A, Voyich J, Musser J, Woellner C, Schäffer A, Puck J, Grimbacher B. STAT3 Mutations in the Hyper-IgE Syndrome. New England Journal Of Medicine 2007, 357: 1608-1619. PMID: 17881745, DOI: 10.1056/nejmoa073687.Peer-Reviewed Original ResearchConceptsSrc homology 2Hyper-IgE syndromeIn-frame deletionMononuclear cellsIncreased innate immune responseInterleukin-6Tumor necrosis factor-alpha levelsElevated serum IgE levelsLevels of monocyte chemoattractant protein-1Sporadic casesIn vitro culture of mononuclear cellsMonocyte chemoattractant protein-1Innate immune responseInterleukin-6 signalingSerum IgE levelsLevels of cytokinesDisorders of immunityCultures of mononuclear cellsDNA bindingProinflammatory gene transcriptionDiscrete mutationsChemoattractant protein-1Missense mutationsSTAT3 mutationsPresence of interleukin-6