Featured Publications
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, Butrick M, Matthews H, Price S, Biancalana M, Wang X, Richards M, Pozos T, Barlan I, Ozen A, Rao VK, Su HC, Lenardo MJ. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. Journal Of Experimental Medicine 2014, 211: 2537-2547. PMID: 25488983, PMCID: PMC4267241, DOI: 10.1084/jem.20141759.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAlternative SplicingAntibody FormationBase SequenceCatalytic DomainCD8-Positive T-LymphocytesCell DifferentiationChild, PreschoolClass Ia Phosphatidylinositol 3-KinaseEnzyme ActivationExonsFemaleGenes, DominantHeterozygoteHumansImmunologic Deficiency SyndromesLymphoproliferative DisordersMaleMolecular Sequence DataMutationPedigreePhosphatidylinositol 3-KinasesProtein Structure, TertiarySequence DeletionSignal TransductionTelomereTOR Serine-Threonine KinasesConceptsT cellsPI3KPI3K subunitsSenescent T cellsRecurrent sinopulmonary infectionsHeterozygous splice site mutationSplice site mutationEffector cellsPeripheral bloodSinopulmonary infectionsHuman immunodeficiencyHeterozygous splice mutationsImmunodeficiency diseaseHealthy subjectsUnique disorderHeterozygous mutationsClass IaPatient cellsProminent expansionK subunitLymphoproliferationPatientsSimilar diseasesShort telomeresDisease
2021
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Sancho-Shimizu V, Brodin P, Cobat A, Biggs CM, Toubiana J, Lucas CL, Henrickson SE, Belot A, Haddad E, Beland K, Pujol A, Schlüter A, Planas-Serra L, Aguilera-Albesa S, Valencia-Ramos J, Rodríguez-Palmero A, Gut M, Rivière J, Colobran R, Soler-Palacin P, Rodriguez-Gallego C, De Diego R, Flores C, Alsina L, Blazquez-Gamero D, Jordan I, Keles S, Emiroglu M, Akcan O, Alkan G, Aytekin S, Gul Y, Öz Ş, Bozdemir S, Bayhan G, Kanık-Yüksek S, Parlakay A, Gülhan B, Yahşi A, Kilic A, Karbuz A, Erdeniz E, Özkan E, Orbak Z, Aydemir Ş, Celik J, Kandemir B, Aytekin G, Kapakli H, Yarar V, Yosunkaya A, Vatansev H, Aytekin C, Torun S, Nepesov S, Coskuner T, Sözeri B, Demirkol Y, Kasapcopur O, Yıldız M, Sevketoglu E, Hatipoğlu N, Özçelik T, Yesilbas O, Aydin Z, Sediva A, Klocperk A, Bloomfield M, Meyts I, Delafontaine S, Haerynck F, Hoste L, Shahrooei M, Marque L, Neves J, Novelli G, Novelli A, Aiuti A, Casari G, Bousfiha A, Almuhsen S, Sobh A, Gagro A, Bajolle F, Bonnet D, Lebon P, Lei W, Lee D, Seeleuthner Y, Zhang P, Maglorius M, Philippot Q, Pelham S, Bastard P, Zhang Q, Jouanguy E, Puel A, Herberg J, Kuijpers T, Bellos E, Kaforou M, Menikou S, Pan-Hammarström Q, Hammarström L, Abolhassani H, Bryceson Y, Condino-Neto A, Prando C, Bando S, Cavalcanti A, Fellay J, Blanchard-Rohner G, Mansouri D, Mahmoudi S, Boyarchuk O, Volokha A, Bondarenko A, Stepanovskiy Y, Mogensen T, van de Beek D, Andreakos E, Papadaki M, Tayoun A, Halwani R, Al-Mulla F, Franco J, Lau Y, Kwan M, Imai K, Okada S, Bolze A, Butte M, Hsieh E, Drolet B, Arkin L, Itan Y, Maniatis T, Arditi M, Cooper M, Schmitt E, Chakravorty S, Anderson M, Su H, Notarangelo L, Tangye S, Milner J, Levin M, Abel L, Bogunovic D, Casanova J, Zhang S. SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease? Journal Of Experimental Medicine 2021, 218: e20210446. PMID: 33904890, PMCID: PMC8080850, DOI: 10.1084/jem.20210446.Peer-Reviewed Original ResearchConceptsClassic Kawasaki diseaseKawasaki diseaseSARS-CoV-2Higher COVID-19 ratesPathogenesis of MISRare inborn errorCOVID-19 ratesMonogenic IEIInflammatory syndromeViral illnessViral triggerInflammatory conditionsImmune responseEpidemiological dataInborn errorsGenetic causeWeak associationPathogenesisDiseaseIEIChildrenSyndromeIllnessInfectionImmunity
2020
The Mystery of MIS-C Post-SARS-CoV-2 Infection
Brodsky NN, Ramaswamy A, Lucas CL. The Mystery of MIS-C Post-SARS-CoV-2 Infection. Trends In Microbiology 2020, 28: 956-958. PMID: 33190685, PMCID: PMC7556780, DOI: 10.1016/j.tim.2020.10.004.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsSevere acute respiratory syndrome coronavirus 2Acute respiratory syndrome coronavirus 2SARS-CoV-2 infectionRespiratory syndrome coronavirus 2Multisystem inflammatory syndromeCoronavirus disease 2019 (COVID-19) pandemicSyndrome coronavirus 2Life-threatening illnessDisease 2019 pandemicImmune driversInflammatory syndromeCoronavirus 2Enigmatic diseaseImportant new studiesChildrenNew studiesUnique effectsSyndromeIllnessInfectionDiseaseNovel 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
2015
Identifying genetic determinants of autoimmunity and immune dysregulation
Lucas CL, Lenardo MJ. Identifying genetic determinants of autoimmunity and immune dysregulation. Current Opinion In Immunology 2015, 37: 28-33. PMID: 26433354, PMCID: PMC5583726, DOI: 10.1016/j.coi.2015.09.001.Peer-Reviewed Original ResearchConceptsHematopoietic stem cell transplantationStem cell transplantationCommon autoimmune diseaseHealth care costsRare immune diseasesMendelian disease mutationsExperiments of natureMendelian inheritance patternImmune dysregulationAutoimmune diseasesCell transplantationChronic diseasesDisease-causing genesImmune regulationImmune diseasesImmunological diseasesHuman locusTherapeutic targetCare costsGenetic insightsDiseaseDisease mutationsGenetic determinantsPolygenic diseaseDisease susceptibility