2025
Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity
Novotny S, Yoo N, Chen J, Granoth M, Kohli-Pamnani A, Hsu F, Rodenas M, Steele R, Kaman K, Soffer G, Price C, Kuster J, Kang I, Osmani L, Shin J. Association of clinical manifestations and immune alterations with genetic variants of uncertain significance in patients concerned for inborn errors of immunity. Clinical Immunology 2025, 277: 110513. PMID: 40354868, DOI: 10.1016/j.clim.2025.110513.Peer-Reviewed Original ResearchInborn errors of immunityErrors of immunityGenetic variantsInborn errorsAssociation of clinical manifestationsGene clusterGene functionStudy evaluated associationsImmune alterationsDiagnostic challengeClinical manifestationsImmunological profileGenetic testingVUSGenesImmunological characteristicsImmune functionLaboratory dataImmunityVariantsAssociationPatientsCoupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits
Scherer N, Fässler D, Borisov O, Cheng Y, Schlosser P, Wuttke M, Haug S, Li Y, Telkämper F, Patil S, Meiselbach H, Wong C, Berger U, Sekula P, Hoppmann A, Schultheiss U, Mozaffari S, Xi Y, Graham R, Schmidts M, Köttgen M, Oefner P, Knauf F, Eckardt K, Grünert S, Estrada K, Thiele I, Hertel J, Köttgen A. Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits. Nature Genetics 2025, 57: 193-205. PMID: 39747595, PMCID: PMC11735408, DOI: 10.1038/s41588-024-01965-7.Peer-Reviewed Original ResearchConceptsWhole-exome sequencing dataGene-metabolite associationsHuman traitsHuman metabolic reactionsSequence dataAllelic seriesGene functionExome sequencingFunctional variantsGenetic studiesInborn errors of metabolismHeterozygous variantsErrors of metabolismMusculoskeletal traitsMetabolic reactionsHuman heightUrine metabolitesHeterozygous stateSulfate reabsorptionInborn errorsTraitsAggregation testVariantsHuman metabolismMetabolomics
2024
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes
DiFalco C, Gijavanekar C, Wang Y, Grace A, Machol K, Emrick L, Liu N, Mizerik E, Mackay L, Dai H, Vossaert L, Xia F, Elsea S, Scaglia F. Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes. Molecular Genetics And Metabolism 2024, 144: 109009. PMID: 39787888, DOI: 10.1016/j.ymgme.2024.109009.Peer-Reviewed Original ResearchConceptsUrine organic acid analysisUntargeted metabolomic profilingInborn errors of metabolismErrors of metabolismMetabolomic profilesMetabolomic analysisHeterogeneous group of inborn errors of metabolismGroup of inborn errors of metabolismUntargeted metabolomics analysisDegree of clinical sensitivityBiochemical screening toolScreening toolOrganic acid analysisClinical sensitivityBiochemical abnormalitiesDistal defectsInborn errorsSyndromeHeterogeneous groupPlasma samplesDetectable elevationImpaired functionClinical modalityBiochemical phenotypeUrineCOVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report
McDonnell J, Cousins K, Younger M, Lane A, Abolhassani H, Abraham R, Al-Tamemi S, Aldave-Becerra J, Al-Faris E, Alfaro-Murillo A, AlKhater S, Alsaati N, Doss A, Anderson M, Angarola E, Ariue B, Arnold D, Assa’ad A, Aytekin C, Bank M, Bergerson J, Bleesing J, Boesing J, Bouso C, Brodszki N, Cabanillas D, Cady C, Callahan M, Caorsi R, Carbone J, Carrabba M, Castagnoli R, Catanzaro J, Chan S, Chandra S, Chapdelaine H, Chavoshzadeh Z, Chong H, Connors L, Consonni F, Correa-Jimenez O, Cunningham-Rundles C, D’Astous-Gauthier K, Delmonte O, Demirdag Y, Deshpande D, Diaz-Cabrera N, Dimitriades V, El-Owaidy R, ElGhazali G, Al-Hammadi S, Fabio G, Faure A, Feng J, Fernandez J, Fill L, Franco G, Frenck R, Fuleihan R, Giardino G, Galant-Swafford J, Gambineri E, Garabedian E, Geerlinks A, Goudouris E, Grecco O, Pan-Hammarström Q, Khani H, Hammarström L, Hartog N, Heimall J, Hernandez-Molina G, Horner C, Hostoffer R, Hristova N, Hsiao K, Ivankovich-Escoto G, Jaber F, Jalil M, Jamee M, Jean T, Jeong S, Jhaveri D, Jordan M, Joshi A, Kalkat A, Kanarek H, Kellner E, Khojah A, Khoury R, Kokron C, Kumar A, Lecerf K, Lehman H, Leiding J, Lesmana H, Lim X, Lopes J, López A, Tarquini L, Lundgren I, Magnusson J, Marinho A, Marseglia G, Martone G, Mechtler A, Mendonca L, Milner J, Mustillo P, Naderi A, Naviglio S, Nell J, Niebur H, Notarangelo L, Oleastro M, Ortega-López M, Patel N, Petrovic G, Pignata C, Porras O, Prince B, Puck J, Qamar N, Rabusin M, Raje N, Regairaz L, Risma K, Ristagno E, Routes J, Roxo-Junior P, Salemi N, Scalchunes C, Schuval S, Seneviratne S, Shankar A, Sherkat R, Shin J, Siddiqi A, Signa S, Sobh A, Lima F, Stenehjem K, Tam J, Tang M, Barros M, Verbsky J, Vergadi E, Voelker D, Volpi S, Wall L, Wang C, Williams K, Wu E, Wu S, Zhou J, Cook A, Sullivan K, Marsh R. COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report. Journal Of Clinical Immunology 2024, 44: 86. PMID: 38578389, PMCID: PMC10997719, DOI: 10.1007/s10875-023-01613-5.Peer-Reviewed Original ResearchConceptsInborn errors of immunityCOVID-19 vaccineICU admissionInborn errors of immunity patientsInborn errorsUS Immunodeficiency NetworkErrors of immunityVaccination prior to infectionLogistic regression analysisVaccine safetyAntibody deficiencyRates of hospitalizationCOVID-19 severitySymptomatic anemiaOdds of hospitalizationCOVID-19 infectionRegistry databaseMRNA-basedCOVID-19 vaccine safetyPatientsOutpatient clinicEmergency room careICU careICUVaccineShwachman–Diamond syndrome mimicking mitochondrial hepatopathy
Kaufman O, Donnelly C, Cork E, Fiel M, Chu J, Ganesh J. Shwachman–Diamond syndrome mimicking mitochondrial hepatopathy. JPGN Reports 2024, 5: 213-217. PMID: 38756125, PMCID: PMC11093899, DOI: 10.1002/jpr3.12064.Peer-Reviewed Original ResearchShwachman-Bodian-Diamond syndromeMaintenance of mitochondrial DNARegulation of mitochondrial functionShwachman-Diamond syndromeMitochondrial DNAMitochondrial phenotypeMitochondrial diseaseMitochondrial hepatopathySmall mitochondriaMitochondrial functionShwachman-Diamond syndrome patientsGenetic disordersInborn errors of metabolismErrors of metabolismMolecular research studiesInborn errorsMitochondriaDNAMutationsElectron micrographsPhenotype
2023
Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism
Mistry P, Garcia-Tsao G. Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism. New England Journal Of Medicine 2023, 389: 2010-2013. PMID: 37991861, DOI: 10.1056/nejme2310332.Peer-Reviewed Original ResearchPI3Kδ Pathway Dysregulation and Unique Features of Its Inhibition by Leniolisib in Activated PI3Kδ Syndrome and Beyond
Cant A, Chandra A, Munro E, Rao V, Lucas C. PI3Kδ Pathway Dysregulation and Unique Features of Its Inhibition by Leniolisib in Activated PI3Kδ Syndrome and Beyond. The Journal Of Allergy And Clinical Immunology In Practice 2023, 12: 69-78. PMID: 37777067, PMCID: PMC10872751, DOI: 10.1016/j.jaip.2023.09.016.Peer-Reviewed Original ResearchConceptsPI3Kδ inhibitorsActivated PI3Kδ SyndromeImmune cell developmentPI3Kδ syndromeSpecific inhibitory propertiesAdverse eventsTreatment optionsPI3Kδ activityHematological malignanciesPathway dysregulationInborn errorsDrug mechanismsGenetic hyperactivationLeniolisibSyndromeΔ isoformsCell developmentInhibitorsInhibitory propertiesΓ isoformsColitisNeutropeniaTolerabilityMalignancyHepatotoxicityAn Enigmatic Case of Jaundice and Photosensitivity in an Adolescent
Bhagat N, Singh P, De A, Mitra S, Kumar A, Dhanasekaran V, Parkhi M, Ray D, Duseja A. An Enigmatic Case of Jaundice and Photosensitivity in an Adolescent. ACG Case Reports Journal 2023, 10: e00996. PMID: 36891180, PMCID: PMC9988325, DOI: 10.14309/crj.0000000000000996.Peer-Reviewed Original ResearchLoss-of-function mutationsErythropoietic protoporphyriaGenetic analysisInborn error of heme biosynthesisEnd-stage liver diseaseAdolescent boysHepatobiliary manifestationsAbdominal painProgressive jaundiceClinical featuresLiver diseaseLiver enzymesJaundiceInborn errorsMetal-free protoporphyrinProtoporphyrin depositionHeme biosynthesisLiverFerrochelataseMutationsBrown pigmentBoysCholelithiasisPainProtoporphyrinInborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Bozdemir S, Bayhan G, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna J, Jaffré F, Hoffmann H, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias A, Bailey R, Schlüter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus A, Rosain J, Peel J, Chan Y, Morin M, Pino-Ramirez R, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, Fumadó V, DeDiego M, Fidouh N, Rozenberg F, Pérez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss S, Bonnet D, Duval X, Pan-Hammarström Q, Planas A, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard C, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, Béziat V, de Diego R, Rodriguez-Gallego C, Su H, Lifton R, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice C, Silverman R, Zhang S, Casanova J, Alavoine L, Behillil S, Burdet C, Charpentier C, Dechanet A, Descamps D, Duval X, Ecobichon J, Enouf V, Frezouls W, Houhou N, Kafif O, Lehacaut J, Letrou S, Lina B, Lucet J, Manchon P, Nouroudine M, Piquard V, Quintin C, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, Chahine A, Waucquier N, Migaud M, Deplanque D, Djossou F, Mergeay-Fabre M, Lucarelli A, Demar M, Bruneau L, Gérardin P, Maillot A, Payet C, Laviolle B, Laine F, Paris C, Desille-Dugast M, Fouchard J, Malvy D, Nguyen D, Pistone T, Perreau P, Gissot V, Le Goas C, Montagne S, Richard L, Chirouze C, Bouiller K, Desmarets M, Meunier A, Lefèvre B, Jeulin H, Legrand K, Lomazzi S, Tardy B, Gagneux-Brunon A, Bertholon F, Botelho-Nevers E, Christelle K, Nicolas L, Roufai L, Amat K, Couffin-Cadiergues S, Espérou H, Hendou S, Abel L, Abolhassani H, Aguilera-Albesa S, Aiuti A, Akcan O, Akcay N, Alkan G, Alkhater S, Allende L, Alper Y, Amenzoui N, Anderson M, Arkin L, Aubart M, Avramenko I, Aydemir Ş, Aydin Z, Aytekin C, Aytekin G, Aytekin S, Bando S, Beland K, Belkaya S, Biggs C, Aburto A, Blanchard-Rohner G, Blázquez-Gamero D, Bloomfield M, Bogunovic D, Bondarenko A, Borghesi A, Bousfiha A, Boyarchuk O, Brodin P, Bryceson Y, Bucciol G, Calcaterra V, Casari G, Cavalcanti A, Celik J, Chrousos G, Colobran R, Condino-Neto A, Conti F, Cooper M, Coskuner T, Cyrus C, D’Auria E, Delafontaine S, Drolet B, Duramaz B, Zein L, Elnagdy M, Emiroglu M, Erdeniz E, Fabi M, Feldman H, Fellay J, Fencl F, Filippatos F, Freiss J, Fremuth J, Gagro A, Garcia-Solis B, Vergine G, González-Montelongo R, Gul Y, Gülhan B, Gultekin S, Gut M, Halwani R, Hammarström L, Hatipoğlu N, Heath J, Henrickson S, Hernandez-Brito E, Hoffman I, Hoste L, Hsieh E, Íñigo-Campos A, Itan Y, Jabandziev P, Kandemir B, Kanık-Yüksek S, Kapakli H, Karbuz A, Kasapcopur O, Kechiche R, Demirkol Y, Kilic O, Hansen S, Klocperk A, Lau Y, Lebl J, Lorenzo-Salazar J, Lucas C, Maglorius M, Marque L, Medina Y, Melián A, Mentis A, Pato M, Michos A, Milner J, Mogensen T, Muñoz-Barrera A, Nepesov S, Neves J, Ng A, Ng L, Novelli A, Novelli G, Oz F, Ocejo-Viñals J, Okada S, Orbak Z, Kilic A, Ouair H, Öz Ş, Özçelik T, Özkan E, Parlakay A, Pato C, Paz-Artal E, Pelham S, Pellier I, Philippot Q, Planas-Serra L, Plassart S, Pokorna P, Polat M, Poli C, Prando C, Renia L, Rivière J, Rodríguez-Palmero A, Roussel L, Rubio-Rodriguez L, Salifu M, Sasek L, Sasia L, Scherbina A, Schmitt E, Sediva A, Sevketoglu E, Slaba K, Slaby O, Sobh A, Solé-Violán J, Soler-Palacin P, De Somer L, Sözeri B, Spaan A, Stepanovskiy Y, Tangye S, Tanir G, Tatsi E, Thorball C, Torun S, Turvey S, Uddin M, Uyar E, Valencia-Ramos J, Van Den Rym A, Vatansev H, de Vera M, Vermeulen F, Vinh D, Volokha A, von Bernuth H, Wouters C, Yahşi A, Yarar V, Yesilbas O, Yıldız M, Zatz M, Zawadzki P, Zuccotti G, Zhang S, Casanova J. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children. Science 2023, 379: eabo3627. PMID: 36538032, PMCID: PMC10451000, DOI: 10.1126/science.abo3627.Peer-Reviewed Original ResearchConceptsOAS-RNase LInflammatory syndromeCytokine productionInflammatory cytokinesSARS-CoV-2-related multisystem inflammatory syndromeCytosolic double-stranded RNAMultisystem inflammatory syndromeRig-I deficiencySuppress cytokine productionPrimary myeloid cellsRNase LMonocytic cell lineAutosomal recessive deficiencyMyeloid cellsMononuclear phagocytesUnrelated childrenInborn errorsRecessive deficiencyDeficient cellsProtein deficiencyCOVID-19Cell linesCytokinesSyndromeDouble-stranded RNA
2022
18 Inborn errors of metabolism
Tao J, Tantawy H. 18 Inborn errors of metabolism. 2022, 365-372. DOI: 10.1016/b978-0-323-71860-8.00027-6.Peer-Reviewed Original ResearchInborn errors of metabolismErrors of metabolismInborn errorsTreatment of acute exacerbationsEnzymatic functionLife-threatening problemPreoperative evaluationAcute exacerbationIntraoperative managementGenetic disordersMetabolic disordersWilson's diseaseEmergency treatmentPerioperative settingFood metabolismMetabolismDiseaseDisorders
2021
Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis
Chen J, Jing H, Martin-Nalda A, Bastard P, Rivière J, Liu Z, Colobran R, Lee D, Tung W, Manry J, Hasek M, Boucherit S, Lorenzo L, Rozenberg F, Aubart M, Abel L, Su H, Palacin P, Casanova J, Zhang S. Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis. Journal Of Experimental Medicine 2021, 218: e20211349. PMID: 34726731, PMCID: PMC8570298, DOI: 10.1084/jem.20211349.Peer-Reviewed Original ResearchMeSH KeywordsCells, CulturedChild, PreschoolEncephalitis, ViralEnterovirusEnterovirus InfectionsFemaleFibroblastsHumansInfantInterferon alpha-2Interferon-betaInterferon-Induced Helicase, IFIH1Loss of Function MutationMaleMetabolism, Inborn ErrorsPoly I-CRhombencephalonToll-Like Receptor 3Virus ReplicationConceptsIFN-α2bVirus-induced type I IFN productionType I IFN productionLife-threatening infectionsI IFN productionCentral nervous systemPost-infection treatmentCell-intrinsic immunityLater time pointsEnterovirus infectionHuman TLR3IFN productionNervous systemTLR3Unrelated childrenViral phenotypeInborn errorsViral susceptibilityTime pointsIFIH1 variantsInfectionRhombencephalitisCell linesEV30MDA5Infections in activated PI3K delta syndrome (APDS)
Brodsky NN, Lucas CL. Infections in activated PI3K delta syndrome (APDS). Current Opinion In Immunology 2021, 72: 146-157. PMID: 34052541, DOI: 10.1016/j.coi.2021.04.010.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsPI3K delta syndromeHematopoietic stem cell transplantAnti-microbial prophylaxisPI3K-delta syndromeStem cell transplantSenescent T cellsSpectrum of infectionsAdaptive immune functionAutosomal dominant disorderCell transplantImmune defectsImmunoglobulin replacementRecurrent infectionsImmunomodulatory agentsTherapy optionsT cellsImmune functionInfection susceptibilityInborn errorsDominant disorderInfectionLymphadenopathyPatientsFunction mutationsImmunodeficiencySARS-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
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J, Tsang J, Goldbach-Mansky R, Kisand K, Lionakis M, Puel A, Zhang S, Holland S, Gorochov G, Jouanguy E, Rice C, Cobat A, Notarangelo L, Abel L, Su H, Casanova J, Arias A, Boisson B, Boucherit S, Bustamante J, Chbihi M, Chen J, Chrabieh M, Kochetkov T, Le Voyer T, Liu D, Nemirovskaya Y, Ogishi M, Papandrea D, Patissier C, Rapaport F, Roynard M, Vladikine N, Woollett M, Zhang P, Kashyap A, Ding L, Bosticardo M, Wang Q, Ochoa S, Liu H, Chauvin S, Stack M, Koroleva G, Bansal N, Dalgard C, Snow A, Abad J, Aguilera-Albesa S, Akcan O, Darazam I, Aldave J, Ramos M, Nadji S, Alkan G, Allardet-Servent J, Allende L, Alsina L, Alyanakian M, Amador-Borrero B, Amoura Z, Antolí A, Arslan S, Assant S, Auguet T, Azot A, Bajolle F, Baldolli A, Ballester M, Feldman H, Barrou B, Beurton A, Bilbao A, Blanchard-Rohner G, Blanco I, Blandinières A, Blazquez-Gamero D, Bloomfield M, Bolivar-Prados M, Borie R, Bousfiha A, Bouvattier C, Boyarchuk O, Bueno M, Bustamante J, Cáceres Agra J, Calimli S, Capra R, Carrabba M, Casasnovas C, Caseris M, Castelle M, Castelli F, de Vera M, Castro M, Catherinot E, Chalumeau M, Charbit B, Cheng M, Clavé P, Clotet B, Codina A, Colkesen F, Colkesen F, Colobran R, Comarmond C, Corsico A, Dalmau D, Darley D, Dauby N, Dauger S, de Pontual L, Dehban A, Delplancq G, Demoule A, Di Sabatino A, Diehl J, Dobbelaere S, Durand S, Eldars W, Elgamal M, Elnagdy M, Emiroglu M, Erdeniz E, Aytekin S, Euvrard R, Evcen R, Fabio G, Faivre L, Falck A, Fartoukh M, Faure M, Arquero M, Flores C, Francois B, Fumadó V, Fusco F, Solis B, Gaussem P, Gil-Herrera J, Gilardin L, Alarcon M, Girona-Alarcón M, Goffard J, Gok F, González-Montelongo R, Guerder A, Gul Y, Guner S, Gut M, Hadjadj J, Haerynck F, Halwani R, Hammarström L, Hatipoglu N, Hernandez-Brito E, Holanda-Peña M, Horcajada J, Hraiech S, Humbert L, Iglesias A, Íñigo-Campos A, Jamme M, Arranz M, Jordan I, Kanat F, Kapakli H, Kara I, Karbuz A, Yasar K, Keles S, Demirkol Y, Klocperk A, Król Z, Kuentz P, Kwan Y, Lagier J, Lau Y, Le Bourgeois F, Leo Y, Lopez R, Leung D, Levin M, Levy M, Lévy R, Li Z, Linglart A, Lorenzo-Salazar J, Louapre C, Lubetzki C, Luyt C, Lye D, Mansouri D, Marjani M, Pereira J, Martin A, Pueyo D, Martinez-Picado J, Marzana I, Mathian A, Matos L, Matthews G, Mayaux J, Mège J, Melki I, Meritet J, Metin O, Meyts I, Mezidi M, Migeotte I, Millereux M, Mirault T, Mircher C, Mirsaeidi M, Melián A, Martinez A, Morange P, Mordacq C, Morelle G, Mouly S, Muñoz-Barrera A, Nafati C, Neves J, Ng L, Medina Y, Cuadros E, Ocejo-Vinyals J, Orbak Z, Oualha M, Özçelik T, Hammarström Q, Parizot C, Pascreau T, Paz-Artal E, de Diego R, Philippe A, Philippot Q, Planas-Serra L, Ploin D, Poissy J, Poncelet G, Pouletty M, Quentric P, Raoult D, Rebillat A, Reisli I, Ricart P, Richard J, Rivet N, Rivière J, Blanch G, Rodrigo C, Rodriguez-Gallego C, Rodríguez-Palmero A, Romero C, Rothenbuhler A, Rozenberg F, Ruiz del Prado M, Riera J, Sanchez O, Sánchez-Ramón S, Schluter A, Schmidt M, Schweitzer C, Scolari F, Sediva A, Seijo L, Sene D, Senoglu S, Seppänen M, Ilovich A, Shahrooei M, Smadja D, Sobh A, Moreno X, Solé-Violán J, Soler C, Soler-Palacín P, Stepanovskiy Y, Stoclin A, Taccone F, Tandjaoui-Lambiotte Y, Taupin J, Tavernier S, Terrier B, Thumerelle C, Tomasoni G, Toubiana J, Alvarez J, Trouillet-Assant S, Troya J, Tucci A, Ursini M, Uzunhan Y, Vabres P, Valencia-Ramos J, Van Den Rym A, Vandernoot I, Vatansev H, Vélez-Santamaria V, Viel S, Vilain C, Vilaire M, Vincent A, Voiriot G, Vuotto F, Yosunkaya A, Young B, Yucel F, Zannad F, Zatz M, Belot A, Foti G, Bellani G, Citerio G, Contro E, Pesci A, Valsecchi M, Cazzaniga M, Bole-Feysot C, Lyonnet S, Masson C, Nitschke P, Pouliet A, Schmitt Y, Tores F, Zarhrate M, Abel L, Andrejak C, Angoulvant F, Bachelet D, Basmaci R, Behillil S, Beluze M, Benkerrou D, Bhavsar K, Bompart F, Bouadma L, Bouscambert M, Caralp M, Cervantes-Gonzalez M, Chair A, Coelho A, Couffignal C, Couffin-Cadiergues S, D’ortenzio E, Da Silveira C, Debray M, Deplanque D, Descamps D, Desvallées M, Diallo A, Diouf A, Dorival C, Dubos F, Duval X, Eloy P, Enouf V, Esperou H, Esposito-Farese M, Etienne M, Ettalhaoui N, Gault N, Gaymard A, Ghosn J, Gigante T, Gorenne I, Guedj J, Hoctin A, Hoffmann I, Jaafoura S, Kafif O, Kaguelidou F, Kali S, Khalil A, Khan C, Laouénan C, Laribi S, Le M, Le Hingrat Q, Le Mestre S, Le Nagard H, Lescure F, Lévy Y, Levy-Marchal C, Lina B, Lingas G, Lucet J, Malvy D, Mambert M, Mentré F, Mercier N, Meziane A, Mouquet H, Mullaert J, Neant N, Noret M, Pages J, Papadopoulos A, Paul C, Peiffer-Smadja N, Petrov-Sanchez V, Peytavin G, Picone O, Puéchal O, Rosa-Calatrava M, Rossignol B, Rossignol P, Roy C, Schneider M, Semaille C, Mohammed N, Tagherset L, Tardivon C, Tellier M, Téoulé F, Terrier O, Timsit J, Treoux T, Tual C, Tubiana S, van der Werf S, Vanel N, Veislinger A, Visseaux B, Wiedemann A, Yazdanpanah Y, Abel L, Alcover A, Aschard H, Astrom K, Bousso P, Bruhns P, Cumano A, Demangel C, Deriano L, Di Santo J, Dromer F, Eberl G, Enninga J, Fellay J, Gomperts-Boneca I, Hasan M, Hercberg S, Lantz O, Mouquet H, Patin E, Pellegrini S, Pol S, Rausell A, Rogge L, Sakuntabhai A, Schwartz O, Schwikowski B, Shorte S, Tangy F, Toubert A, Touvier M, Ungeheuer M, Albert M, Duffy D, Quintana-Murci L, Alavoine L, Amat K, Behillil S, Bielicki J, Bruijning P, Burdet C, Caumes E, Charpentier C, Coignard B, Costa Y, Couffin-Cadiergues S, Damond F, Dechanet A, Delmas C, Descamps D, Duval X, Ecobichon J, Enouf V, Espérou H, Frezouls W, Houhou N, Ilic-Habensus E, Kafif O, Kikoine J, Le Hingrat Q, Lebeaux D, Leclercq A, Lehacaut J, Letrou S, Lina B, Lucet J, Malvy D, Manchon P, Mandic M, Meghadecha M, Motiejunaite J, Nouroudine M, Piquard V, Postolache A, Quintin C, Rexach J, Roufai L, Terzian Z, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, van Agtmael M, Algera A, van Baarle F, Bax D, Beudel M, Bogaard H, Bomers M, Bos L, Botta M, de Brabander J, Bree G, Brouwer M, de Bruin S, Bugiani M, Bulle E, Chouchane O, Cloherty A, Elbers P, Fleuren L, Geerlings S, Geerts B, Geijtenbeek T, Girbes A, Goorhuis B, Grobusch M, Hafkamp F, Hagens L, Hamann J, Harris V, Hemke R, Hermans S, Heunks L, Hollmann M, Horn J, Hovius J, de Jong M, Koning R, van Mourik N, Nellen J, Paulus F, Peters E, van der Poll T, Preckel B, Prins J, Raasveld J, Reijnders T, Schinkel M, Schultz M, Schuurman A, Sigaloff K, Smit M, Stijnis C, Stilma W, Teunissen C, Thoral P, Tsonas A, van der Valk M, Veelo D, Vlaar A, de Vries H, van Vugt M, Wiersinga W, Wouters D, Zwinderman A, van de Beek D, Abel L, Aiuti A, Al Muhsen S, Al-Mulla F, Anderson M, Arias A, Feldman H, Bogunovic D, Bolze A, Bondarenko A, Bousfiha A, Brodin P, Bryceson Y, Bustamante C, Butte M, Casari G, Chakravorty S, Christodoulou J, Cirulli E, Condino-Neto A, Cooper M, Dalgard C, DeRisi J, Desai M, Drolet B, Espinosa S, Fellay J, Flores C, Franco J, Gregersen P, Haerynck F, Hagin D, Halwani R, Heath J, Henrickson S, Hsieh E, Imai K, Itan Y, Karamitros T, Kisand K, Ku C, Lau Y, Ling Y, Lucas C, Maniatis T, Mansouri D, Marodi L, Meyts I, Milner J, Mironska K, Mogensen T, Morio T, Ng L, Notarangelo L, Novelli G, Novelli A, O'Farrelly C, Okada S, Ozcelik T, de Diego R, Planas A, Prando C, Pujol A, Quintana-Murci L, Renia L, Renieri A, Rodríguez-Gallego C, Sancho-Shimizu V, Sankaran V, Barrett K, Shahrooei M, Snow A, Soler-Palacín P, Spaan A, Tangye S, Turvey S, Uddin F, Uddin M, van de Beek D, Vazquez S, Vinh D, von Bernuth H, Washington N, Zawadzki P, Su H, Casanova J. Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science 2020, 370: eabd4585. PMID: 32972996, PMCID: PMC7857397, DOI: 10.1126/science.abd4585.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 infectionType I IFNI IFNAcute respiratory syndrome coronavirus 2 infectionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infectionLife-threatening COVID-19 pneumoniaMild SARS-CoV-2 infectionSyndrome coronavirus 2 infectionCoronavirus disease 2019 (COVID-19) pneumoniaLife-threatening COVID-19Coronavirus 2 infectionCOVID-19 pneumoniaImmunoglobulin G autoantibodiesType I IFNsTypes of IFNI IFNsHealthy individualsClinical variabilityPatientsInborn errorsIFNCritical diseaseInfectionAutoantibodiesPneumoniaInborn errors of type I IFN immunity in patients with life-threatening COVID-19
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D’Angio’ M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C, Snow A, Dalgard C, Milner J, Vinh D, Mogensen T, Marr N, Spaan A, Boisson B, Boisson-Dupuis S, Bustamante J, Puel A, Ciancanelli M, Meyts I, Maniatis T, Soumelis V, Amara A, Nussenzweig M, García-Sastre A, Krammer F, Pujol A, Duffy D, Lifton R, Zhang S, Gorochov G, Béziat V, Jouanguy E, Sancho-Shimizu V, Rice C, Abel L, Notarangelo L, Cobat A, Su H, Casanova J, Foti G, Bellani G, Citerio G, Contro E, Pesci A, Valsecchi M, Cazzaniga M, Abad J, Aguilera-Albesa S, Akcan O, Darazam I, Aldave J, Ramos M, Nadji S, Alkan G, Allardet-Servent J, Allende L, Alsina L, Alyanakian M, Amador-Borrero B, Amoura Z, Antolí A, Arslan S, Assant S, Auguet T, Azot A, Bajolle F, Baldolli A, Ballester M, Feldman H, Barrou B, Beurton A, Bilbao A, Blanchard-Rohner G, Blanco I, Blandinières A, Blazquez-Gamero D, Bloomfield M, Bolivar-Prados M, Borie R, Bosteels C, Bousfiha A, Bouvattier C, Boyarchuk O, Bueno M, Bustamante J, Cáceres Agra J, Calimli S, Capra R, Carrabba M, Casasnovas C, Caseris M, Castelle M, Castelli F, de Vera M, Castro M, Catherinot E, Chalumeau M, Charbit B, Cheng M, Clavé P, Clotet B, Codina A, Colkesen F, Çölkesen F, Colobran R, Comarmond C, Dalmau D, Darley D, Dauby N, Dauger S, de Pontual L, Dehban A, Delplancq G, Demoule A, Diehl J, Dobbelaere S, Durand S, Eldars W, Elgamal M, Elnagdy M, Emiroglu M, Erdeniz E, Aytekin S, Euvrard R, Evcen R, Fabio G, Faivre L, Falck A, Fartoukh M, Faure M, Arquero M, Flores C, Francois B, Fumadó V, Fusco F, Solis B, Gaussem P, Gil-Herrera J, Gilardin L, Alarcon M, Girona-Alarcón M, Goffard J, Gok F, González-Montelongo R, Guerder A, Gul Y, Guner S, Gut M, Hadjadj J, Haerynck F, Halwani R, Hammarström L, Hatipoglu N, Hernandez-Brito E, Heijmans C, Holanda-Peña M, Horcajada J, Hoste L, Hoste E, Hraiech S, Humbert L, Iglesias A, Íñigo-Campos A, Jamme M, Arranz M, Jordan I, Jorens P, Kanat F, Kapakli H, Kara I, Karbuz A, Yasar K, Keles S, Demirkol Y, Klocperk A, Król Z, Kuentz P, Kwan Y, Lagier J, Lambrecht B, Lau Y, Le Bourgeois F, Leo Y, Lopez R, Leung D, Levin M, Levy M, Lévy R, Li Z, Linglart A, Loeys B, Lorenzo-Salazar J, Louapre C, Lubetzki C, Luyt C, Lye D, Mansouri D, Marjani M, Pereira J, Martin A, Pueyo D, Martinez-Picado J, Marzana I, Mathian A, Matos L, Matthews G, Mayaux J, Mège J, Melki I, Meritet J, Metin O, Meyts I, Mezidi M, Migeotte I, Millereux M, Mirault T, Mircher C, Mirsaeidi M, Melián A, Martinez A, Morange P, Mordacq C, Morelle G, Mouly S, Muñoz-Barrera A, Naesens L, Nafati C, Neves J, Ng L, Medina Y, Cuadros E, Ocejo-Vinyals J, Orbak Z, Oualha M, Özçelik T, Pan-Hammarström Q, Parizot C, Pascreau T, Paz-Artal E, Pellegrini S, de Diego R, Philippe A, Philippot Q, Planas-Serra L, Ploin D, Poissy J, Poncelet G, Pouletty M, Quentric P, Raoult D, Rebillat A, Reisli I, Ricart P, Richard J, Rivet N, Rivière J, Blanch G, Rodrigo C, Rodriguez-Gallego C, Rodríguez-Palmero A, Romero C, Rothenbuhler A, Rozenberg F, Ruiz del Prado M, Riera J, Sanchez O, Sánchez-Ramón S, Schluter A, Schmidt M, Schweitzer C, Scolari F, Sediva A, Seijo L, Sene D, Senoglu S, Seppänen M, Ilovich A, Shahrooei M, Slabbynck H, Smadja D, Sobh A, Moreno X, Solé-Violán J, Soler C, Soler-Palacín P, Stepanovskiy Y, Stoclin A, Taccone F, Tandjaoui-Lambiotte Y, Taupin J, Tavernier S, Terrier B, Thumerelle C, Tomasoni G, Toubiana J, Alvarez J, Trouillet-Assant S, Troya J, Tucci A, Ursini M, Uzunhan Y, Vabres P, Valencia-Ramos J, Van Braeckel E, Van de Velde S, Van Den Rym A, Van Praet J, Vandernoot I, Vatansev H, Vélez-Santamaria V, Viel S, Vilain C, Vilaire M, Vincent A, Voiriot G, Vuotto F, Yosunkaya A, Young B, Yucel F, Zannad F, Zatz M, Belot A, Bole-Feysot C, Lyonnet S, Masson C, Nitschke P, Pouliet A, Schmitt Y, Tores F, Zarhrate M, Abel L, Andrejak C, Angoulvant F, Bachelet D, Basmaci R, Behillil S, Beluze M, Benkerrou D, Bhavsar K, Bompart F, Bouadma L, Bouscambert M, Caralp M, Cervantes-Gonzalez M, Chair A, Coelho A, Couffignal C, Couffin-Cadiergues S, D’Ortenzio E, Da Silveira C, Debray M, Deplanque D, Descamps D, Desvallées M, Diallo A, Diouf A, Dorival C, Dubos F, Duval X, Eloy P, Enouf V, Esperou H, Esposito-Farese M, Etienne M, Ettalhaoui N, Gault N, Gaymard A, Ghosn J, Gigante T, Gorenne I, Guedj J, Hoctin A, Hoffmann I, Jaafoura S, Kafif O, Kaguelidou F, Kali S, Khalil A, Khan C, Laouénan C, Laribi S, Le M, Le Hingrat Q, Le Mestre S, Le Nagard H, Lescure F, Lévy Y, Levy-Marchal C, Lina B, Lingas G, Lucet J, Malvy D, Mambert M, Mentré F, Mercier N, Meziane A, Mouquet H, Mullaert J, Neant N, Noret M, Pages J, Papadopoulos A, Paul C, Peiffer-Smadja N, Petrov-Sanchez V, Peytavin G, Picone O, Puéchal O, Rosa-Calatrava M, Rossignol B, Rossignol P, Roy C, Schneider M, Semaille C, Mohammed N, Tagherset L, Tardivon C, Tellier M, Téoulé F, Terrier O, Timsit J, Trioux T, Tual C, Tubiana S, van der Werf S, Vanel N, Veislinger A, Visseaux B, Wiedemann A, Yazdanpanah Y, Alavoine L, Amat K, Behillil S, Bielicki J, Bruijning P, Burdet C, Caumes E, Charpentier C, Coignard B, Costa Y, Couffin-Cadiergues S, Damond F, Dechanet A, Delmas C, Descamps D, Duval X, Ecobichon J, Enouf V, Espérou H, Frezouls W, Houhou N, Ilic-Habensus E, Kafif O, Kikoine J, Le Hingrat Q, Lebeaux D, Leclercq A, Lehacaut J, Letrou S, Lina B, Lucet J, Malvy D, Manchon P, Mandic M, Meghadecha M, Motiejunaite J, Nouroudine M, Piquard V, Postolache A, Quintin C, Rexach J, Roufai L, Terzian Z, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, van Agtmael M, Algera A, van Baarle F, Bax D, Beudel M, Bogaard H, Bomers M, Bos L, Botta M, de Brabander J, de Bree G, Brouwer M, de Bruin S, Bugiani M, Bulle E, Chouchane O, Cloherty A, Elbers P, Fleuren L, Geerlings S, Geerts B, Geijtenbeek T, Girbes A, Goorhuis B, Grobusch M, Hafkamp F, Hagens L, Hamann J, Harris V, Hemke R, Hermans S, Heunks L, Hollmann M, Horn J, Hovius J, de Jong M, Koning R, van Mourik N, Nellen J, Paulus F, Peters E, van der Poll T, Preckel B, Prins J, Raasveld J, Reijnders T, Schinkel M, Schultz M, Schuurman A, Sigaloff K, Smit M, Stijnis C, Stilma W, Teunissen C, Thoral P, Tsonas A, van der Valk M, Veelo D, Vlaar A, de Vries H, van Vugt M, Wiersinga W, Wouters D, Zwinderman A, van de Beek D, Abel L, Aiuti A, Al Muhsen S, Al-Mulla F, Anderson M, Arias A, Feldman H, Bogunovic D, Bolze A, Bondarenko A, Bousfiha A, Brodin P, Bryceson Y, Bustamante C, Butte M, Casari G, Chakravorty S, Christodoulou J, Cirulli E, Condino-Neto A, Cooper M, Dalgard C, David A, DeRisi J, Desai M, Drolet B, Espinosa S, Fellay J, Flores C, Franco J, Gregersen P, Haerynck F, Hagin D, Halwani R, Heath J, Henrickson S, Hsieh E, Imai K, Itan Y, Karamitros T, Kisand K, Ku C, Lau Y, Ling Y, Lucas C, Maniatis T, Mansouri D, Marodi L, Meyts I, Milner J, Mironska K, Mogensen T, Morio T, Ng L, Notarangelo L, Novelli A, Novelli G, O’Farrelly C, Okada S, Ozcelik T, de Diego R, Planas A, Prando C, Pujol A, Quintana-Murci L, Renia L, Renieri A, Rodríguez-Gallego C, Sancho-Shimizu V, Sankaran V, Barrett K, Shahrooei M, Snow A, Soler-Palacín P, Spaan A, Tangye S, Turvey S, Uddin F, Uddin M, van de Beek D, Vazquez S, Vinh D, von Bernuth H, Washington N, Zawadzki P, Su H, Casanova J, Jing H, Tung W, Luthers C, Bauman B, Shafer S, Zheng L, Zhang Z, Kubo S, Chauvin S, Meguro K, Shaw E, Lenardo M, Lack J, Karlins E, Hupalo D, Rosenberger J, Sukumar G, Wilkerson M, Zhang X. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 2020, 370: eabd4570. PMID: 32972995, PMCID: PMC7857407, DOI: 10.1126/science.abd4570.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAllelesAsymptomatic InfectionsBetacoronavirusChildChild, PreschoolCoronavirus InfectionsCOVID-19FemaleGenetic LociGenetic Predisposition to DiseaseHumansInfantInterferon Regulatory Factor-7Interferon Type ILoss of Function MutationMaleMiddle AgedPandemicsPneumonia, ViralReceptor, Interferon alpha-betaSARS-CoV-2Toll-Like Receptor 3Young AdultConceptsLife-threatening COVID-19 pneumoniaCOVID-19 pneumoniaSevere acute respiratory syndrome coronavirus 2Type I interferon immunityAcute respiratory syndrome coronavirus 2Life-threatening COVID-19Respiratory syndrome coronavirus 2Toll-like receptor 3Inborn errorsSyndrome coronavirus 2Coronavirus disease 2019Interferon regulatory factor 7Years of ageAutosomal-dominant deficiencySARS-CoV-2Rare variantsRegulatory factor 7Patients 17Clinical outcomesCoronavirus 2Silent infectionSevere infectionsDisease 2019Benign infectionReceptor 3
2019
Disorders of the Immune System
Kavathas P, Krause P, Ruddle N. Disorders of the Immune System. 2019, 97-107. DOI: 10.1007/978-3-030-25553-4_6.ChaptersImmune systemImmune dysregulationHypersensitivity reactionsRegulation of autoimmunityMajor health problemHuman immune systemNumber of PIDsAllergic reactionsClinical impactAutoinflammatory diseasesForeign antigensImmune responseImmunodeficiency diseaseImmune functionHealth problemsNongenetic causesAutoimmunityHarmful responsesInborn errorsDiseaseType of disorderGenetic defectsImmunodeficiencyInfectionPredominant feature
2017
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene
Zheng DJ, Hooper M, Spencer-Manzon M, Pierce RW. A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene. Journal Of Pediatric Intensive Care 2017, 07: 062-066. PMID: 31073471, PMCID: PMC6260335, DOI: 10.1055/s-0037-1604270.Peer-Reviewed Original ResearchMetabolic supportSevere anion gap metabolic acidosisTransferase deficiencyAnion gap metabolic acidosisPediatric intensive care unitGap metabolic acidosisIntensive care unitMonth old femaleCare unitNeonatal periodSevere acidosisMetabolic acidosisEarly managementFavorable outcomeSCOT deficiencyHigh indexOld femaleOlder ageInborn errorsAcidosisOXCT1 geneImmediate transferDeficiencyFemalesTachypnea
2016
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment
Vilarinho S, Sari S, Mazzacuva F, Bilgüvar K, Esendagli-Yilmaz G, Jain D, Akyol G, Dalgiç B, Günel M, Clayton PT, Lifton RP. ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proceedings Of The National Academy Of Sciences Of The United States Of America 2016, 113: 11289-11293. PMID: 27647924, PMCID: PMC5056113, DOI: 10.1073/pnas.1613228113.Peer-Reviewed Original ResearchConceptsAcyl-CoA oxidase 2Liver fibrosisCognitive impairmentElevated transaminase levelsTreatable inborn errorsBile acid synthesisBile acid intermediatesBile acid biosynthesisTransaminase elevationTransaminase levelsMarked elevationMild ataxiaBile acidsPatient's liverOxidase 2Acyl-CoA oxidaseOld maleBranched chain acyl-CoA oxidaseInborn errorsExome sequencingPremature termination mutationsBranched-chain fatty acidsFibrosisAtaxiaLiver
2013
Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome
Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA. Antioxidant Supplementation Ameliorates Molecular Deficits in Smith-Lemli-Opitz Syndrome. Biological Psychiatry 2013, 75: 215-222. PMID: 23896203, PMCID: PMC3874268, DOI: 10.1016/j.biopsych.2013.06.013.Peer-Reviewed Original ResearchConceptsVitamin EPregnant female miceTransgenic mouse modelSLOS patientsPatient cell culturesSmith-LemliOpitz syndromeQuantitative polymerase chain reactionAntioxidant mixturePolymerase chain reactionFemale miceAntioxidant supplementationMouse modelRodent modelsGlial culturesAntioxidant treatmentVitamin AActive oxysterolsMolecular deficitsCoenzyme Q10Liver tissueWestern blotInborn errorsMaternal feedingLiquid chromatography-tandem mass spectrometry3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients
Wortmann S, Kluijtmans L, Rodenburg R, Sass J, Nouws J, van Kaauwen E, Kleefstra T, Tranebjaerg L, de Vries M, Isohanni P, Walter K, Alkuraya F, Smuts I, Reinecke C, van der Westhuizen F, Thorburn D, Smeitink J, Morava E, Wevers R. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients. Journal Of Inherited Metabolic Disease 2013, 36: 913-921. PMID: 23355087, DOI: 10.1007/s10545-012-9579-6.Peer-Reviewed Original ResearchConceptsMetabolic disordersMitochondrial dysfunctionElevated urinary excretionRoutine metabolic screeningPatient cohortUrinary excretionPatientsMitochondrial DNA depletionMetabolic screeningHydratase deficiencyInborn errorsRelated pathologiesUrine samplesDisordersAciduriaDysfunctionDNA depletionLeucine degradationRespiratory chain complex deficienciesMitochondrial disordersCommon denominatorComplex deficiencySERAC1Consistent featureOPA3
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