2021
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease
Kubo S, Fritz J, Raquer-McKay H, Kataria R, Vujkovic-Cvijin I, Al-Shaibi A, Yao Y, Zheng L, Zou J, Waldman A, Jing X, Farley T, Park A, Oler A, Charles A, Makhlouf M, AbouMoussa E, Hasnah R, Saraiva L, Ganesan S, Al-Subaiey A, Matthews H, Flano E, Lee H, Freeman A, Sefer A, Sayar E, Çakır E, Karakoc-Aydiner E, Baris S, Belkaid Y, Ozen A, Lo B, Lenardo M. Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease. Nature Immunology 2021, 23: 75-85. PMID: 34937930, PMCID: PMC11060421, DOI: 10.1038/s41590-021-01093-y.Peer-Reviewed Original ResearchMeSH KeywordsA549 CellsADAM17 ProteinAnimalsCarrier ProteinsChildChild, PreschoolCitrobacter rodentiumColitisCytokinesEnterobacteriaceae InfectionsFemaleHEK293 CellsHumansInfant, NewbornMacrophagesMaleMiceMice, Inbred C57BLMutationPrimary Immunodeficiency DiseasesPseudomonas aeruginosaPseudomonas InfectionsSignal TransductionConceptsIRhom2 deficiencyLoss-of-function mutationsLocal microbial environmentLoss of iRhom2Diverse clinical phenotypesRecurrent respiratory infectionsWild-type miceRelease of cytokinesTumor necrosis factorHemorrhagic colitisCitrobacter rodentiumADAM17 metalloproteinaseFecal microbiotaSuperfamily membersRecurrent infectionsRecurrent pneumoniaTumor necrosisLung involvementColonic involvementHuman immunodeficiencyInflammatory colitisMicrobial environmentOral speciesPseudomonas aeruginosaColitis patients
2017
CD4:CD8 Ratio and CD8 Count as Prognostic Markers for Mortality in Human Immunodeficiency Virus–Infected Patients on Antiretroviral Therapy: The Antiretroviral Therapy Cohort Collaboration (ART-CC)
Trickey A, May MT, Schommers P, Tate J, Ingle SM, Guest JL, Gill MJ, Zangerle R, Saag M, Reiss P, Monforte A, Johnson M, Lima VD, Sterling TR, Cavassini M, Wittkop L, Costagliola D, Sterne JAC, Boulle A, Stephan C, Miro J, Cavassini M, Chêne G, Costagliola D, Dabis F, Monforte A, del Amo J, Van Sighem A, Vehreschild J, Gill J, Guest J, Haerry D, Hogg R, Justice A, Shepherd L, Obel N, Crane H, Smith C, Reiss P, Saag M, Sterling T, Teira R, Williams M, Zangerle R, Sterne J, May M, Ingle S, Trickey A. CD4:CD8 Ratio and CD8 Count as Prognostic Markers for Mortality in Human Immunodeficiency Virus–Infected Patients on Antiretroviral Therapy: The Antiretroviral Therapy Cohort Collaboration (ART-CC). Clinical Infectious Diseases 2017, 65: 959-966. PMID: 28903507, PMCID: PMC5850630, DOI: 10.1093/cid/cix466.Peer-Reviewed Original ResearchConceptsAdjusted hazard ratioCD8 countsCD8 ratioCohort CollaborationAntiretroviral therapyCause mortalityCD4 countHazard ratioMiddle tertilePrognostic markerAIDS mortalityCause-specific mortality hazard ratiosAntiretroviral Therapy Cohort CollaborationHigher CD4 countsMortality hazard ratioCells/μLHuman immunodeficiency virusIndependent prognostic markerNorth American cohortAssociation of CD8Shape of associationsAssociation of CD4Immunodeficiency virusHuman immunodeficiencyCD4
2014
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 telomeresDiseaseActive case finding for tuberculosis among people who inject drugs on methadone treatment in Dar es Salaam, Tanzania
Gupta A, Mbwambo J, Mteza I, Shenoi S, Lambdin B, Nyandindi C, Doula BI, Mfaume S, Bruce RD. Active case finding for tuberculosis among people who inject drugs on methadone treatment in Dar es Salaam, Tanzania. The International Journal Of Tuberculosis And Lung Disease 2014, 18: 793-798. PMID: 24902554, PMCID: PMC4506927, DOI: 10.5588/ijtld.13.0208.Peer-Reviewed Original ResearchConceptsWorld Health OrganizationActive casesTB prevalenceCase findingMore TB symptomsNew TB casesSymptom-based questionnaireActive case findingPopulation of PWIDTuberculosis case detectionHigh occupational riskTB symptomsTB casesMedian ageTB controlMethadone treatmentHuman immunodeficiencyMethadone clientsCase detectionOccupational riskPrevalenceHealth OrganizationDar es SalaamPWIDDrugs
2013
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, Avery DT, Moens L, Cannons JL, Biancalana M, Stoddard J, Ouyang W, Frucht DM, Rao VK, Atkinson TP, Agharahimi A, Hussey AA, Folio LR, Olivier KN, Fleisher TA, Pittaluga S, Holland SM, Cohen JI, Oliveira JB, Tangye SG, Schwartzberg PL, Lenardo MJ, Uzel G. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nature Immunology 2013, 15: 88-97. PMID: 24165795, PMCID: PMC4209962, DOI: 10.1038/ni.2771.Peer-Reviewed Original ResearchMeSH KeywordsAntibiotics, AntineoplasticCell DifferentiationCells, CulturedCellular SenescenceClass I Phosphatidylinositol 3-KinasesCytomegalovirus InfectionsEpstein-Barr Virus InfectionsFemaleGenes, DominantGerm-Line MutationHumansImmunoblottingImmunologic Deficiency SyndromesMalePedigreePhosphatidylinositol 3-KinasesPhosphorylationProto-Oncogene Proteins c-aktSirolimusT-LymphocytesTOR Serine-Threonine KinasesViremia
2011
Treatment outcomes of a stage 1 cognitive–behavioral trial to reduce alcohol use among human immunodeficiency virus‐infected out‐patients in western Kenya
Papas RK, Sidle JE, Gakinya BN, Baliddawa JB, Martino S, Mwaniki MM, Songole R, Omolo OE, Kamanda AM, Ayuku DO, Ojwang C, Owino‐Ong'or W, Harrington M, Bryant KJ, Carroll KM, Justice AC, Hogan JW, Maisto SA. Treatment outcomes of a stage 1 cognitive–behavioral trial to reduce alcohol use among human immunodeficiency virus‐infected out‐patients in western Kenya. Addiction 2011, 106: 2156-2166. PMID: 21631622, PMCID: PMC3208780, DOI: 10.1111/j.1360-0443.2011.03518.x.Peer-Reviewed Original ResearchConceptsHuman immunodeficiency virusAlcohol useDrinking daysLarge human immunodeficiency virusCognitive behavioral therapy interventionAlcohol intervention studyAlcohol use disorderGroup Cognitive Behavioral Therapy InterventionEffect sizeTreatment effect sizeCognitive behavioral therapyDual epidemicsRandomized participantsPatient clinicImmunodeficiency virusPreliminary efficacyHuman immunodeficiencyClinical trialsTreatment outcomesAlcohol abstinenceAssessment-only controlBinge drinkingUse disordersTherapy interventionFeasible intervention
2008
Does douching increase risk for sexually transmitted infections? A prospective study in high-risk adolescents
Tsai CS, Shepherd BE, Vermund SH. Does douching increase risk for sexually transmitted infections? A prospective study in high-risk adolescents. American Journal Of Obstetrics And Gynecology 2008, 200: 38.e1-38.e8. PMID: 18667177, PMCID: PMC3199592, DOI: 10.1016/j.ajog.2008.06.026.Peer-Reviewed Original ResearchConceptsHazard ratioCox proportional hazards modelIncidence of STIsProportional hazards modelAdjusted hazardIncident STIsProspective studyHigh-risk adolescentsHuman immunodeficiencySTI riskIncrease riskHazards modelNext visitSTIsVisitsDouchersFemale adolescentsDouchingAdolescentsInfectionRiskImmunodeficiencyIncidence
2007
Burden of Recurrent Chlamydia trachomatis Infections in Young Women: Further Uncovering the “Hidden Epidemic”
Niccolai LM, Hochberg AL, Ethier KA, Lewis JB, Ickovics JR. Burden of Recurrent Chlamydia trachomatis Infections in Young Women: Further Uncovering the “Hidden Epidemic”. JAMA Pediatrics 2007, 161: 246-251. PMID: 17339505, DOI: 10.1001/archpedi.161.3.246.Peer-Reviewed Original ResearchConceptsC trachomatis infectionRecurrent Chlamydia trachomatis infectionsChlamydia trachomatis infectionTrachomatis infectionRecurrent infectionsYoung womenCommunity-based health centersPrior chlamydia infectionUrine-based screeningMedical record reviewSubstantial health burdenState health departmentsReproductive health careExposure of interestTime of recruitmentCohort studyProspective followCommon bacterialMedian timeRecord reviewChlamydia infectionClinician referralHuman immunodeficiencyHealth burdenHealth centers
1999
Management of liver failure in a haemophilic patient co‐infected with human immunodeficiency and hepatitis C viruses
Nitu IC, Lee CA, Dhillon AP, Mistry PK. Management of liver failure in a haemophilic patient co‐infected with human immunodeficiency and hepatitis C viruses. International Journal Of Laboratory Hematology 1999, 21: 139-142. PMID: 10342075, DOI: 10.1046/j.1365-2257.1999.00198.x.Peer-Reviewed Original ResearchA randomized trial of vitamin A supplements in relation to mortality among human immunodeficiency virus-infected and uninfected children in Tanzania
FAWZI W, MBISE R, HERTZMARK E, FATAKI M, HERRERA M, NDOSSI G, SPIEGELMAN D. A randomized trial of vitamin A supplements in relation to mortality among human immunodeficiency virus-infected and uninfected children in Tanzania. The Pediatric Infectious Disease Journal 1999, 18: 127-133. PMID: 10048684, DOI: 10.1097/00006454-199902000-00009.Peer-Reviewed Original ResearchConceptsUninfected childrenCause mortalityChildren ages 6 monthsMortality of HIVTrial of vitaminPlacebo-controlled trialDiarrhea-related deathsAge 6 monthsWestern blot testMonths of ageEnzyme-linked immunosorbentLow-cost interventionChildren 58HIV antibodiesHospital dischargeHIV infectionHIV statusPositive childrenStandard treatmentMean durationAntigen assaysFurther dosesHuman immunodeficiencyClinical signsNeutralization assays
1998
Genetic Acceleration of AIDS Progression by a Promoter Variant of CCR5
Martin M, Dean M, Smith M, Winkler C, Gerrard B, Michael N, Lee B, Doms R, Margolick J, Buchbinder S, Goedert J, O'Brien T, Hilgartner M, Vlahov D, O'Brien S, Carrington M. Genetic Acceleration of AIDS Progression by a Promoter Variant of CCR5. Science 1998, 282: 1907-1911. PMID: 9836644, DOI: 10.1126/science.282.5395.1907.Peer-Reviewed Original ResearchMeSH KeywordsAcquired Immunodeficiency SyndromeAllelesChemokine CXCL12Chemokines, CXCCohort StudiesDisease ProgressionGenes, DominantGenes, RecessiveGenetic Predisposition to DiseaseGenotypeHaplotypesHeterozygoteHIV InfectionsHIV-1HomozygoteHumansPromoter Regions, GeneticProportional Hazards ModelsReceptors, CCR2Receptors, CCR5Receptors, ChemokineReceptors, CytokineRisk FactorsSurvival RateConceptsAIDS progressionCell-surface chemokine receptor moleculeCCR5 regulatory regionsChemokine receptor moleculesPercent of patientsAIDS disease progressionHIV-1 infectionCohort of peopleMacrophage-tropic strainsAIDS restriction genesDistinct regulatory influencesCCR2-64IPrincipal coreceptorImmunodeficiency syndromeCCR5-Delta32Genetic epidemiologic analysisDisease progressionHuman immunodeficiencySDF1-3'APromoter genotypeCCR5 geneInfected individualsEpidemiologic analysisHost factorsProgressionGenetic Restriction of AIDS Pathogenesis by an SDF-1 Chemokine Gene Variant
Winkler C, Modi W, Smith M, Nelson G, Wu X, Carrington M, Dean M, Honjo T, Tashiro K, Yabe D, Buchbinder S, Vittinghoff E, Goedert J, O'Brien T, Jacobson L, Detels R, Donfield S, Willoughby A, Gomperts E, Vlahov D, Phair J, Study A, Study H, Study M, Study M, Cohort S, O'Brien S. Genetic Restriction of AIDS Pathogenesis by an SDF-1 Chemokine Gene Variant. Science 1998, 279: 389-393. PMID: 9430590, DOI: 10.1126/science.279.5349.389.Peer-Reviewed Original ResearchMeSH KeywordsAcquired Immunodeficiency SyndromeAdultChemokine CXCL12ChemokinesChemokines, CXCCohort StudiesDisease ProgressionGenesGenetic VariationGenotypeHeterozygoteHIV InfectionsHIV-1HumansMaleMolecular Sequence DataOdds RatioPolymorphism, GeneticRacial GroupsReceptors, CCR2Receptors, CCR5Receptors, ChemokineReceptors, CXCR4Survival AnalysisT-LymphocytesConceptsSDF1-3'AGenetic restrictionRecessive protective effectOnset of AIDSAIDS Cohort StudyStromal-derived factorCohort studyImmunodeficiency syndromeAIDS pathogenesisHuman immunodeficiencyHIV-1Protective effectCommon polymorphismsReceptor variantsGene variantsPrincipal ligandAIDSHomozygous stateGenetic association analysisOnsetCD4CCR5PatientsGene transcriptsImmunodeficiency
1997
Contrasting Genetic Influence of CCR2 and CCR5 Variants on HIV-1 Infection and Disease Progression
Smith M, Dean M, Carrington M, Winkler C, Huttley G, Lomb D, Goedert J, O'Brien T, Jacobson L, Kaslow R, Buchbinder S, Vittinghoff E, Vlahov D, Hoots K, Hilgartner M, Study H, San Francisco City Cohort ALIVE Study M, O'Brien S. Contrasting Genetic Influence of CCR2 and CCR5 Variants on HIV-1 Infection and Disease Progression. Science 1997, 277: 959-965. PMID: 9252328, DOI: 10.1126/science.277.5328.959.Peer-Reviewed Original ResearchMeSH KeywordsAcquired Immunodeficiency SyndromeBlack PeopleCohort StudiesDisease ProgressionGenotypeHaplotypesHeterozygoteHIV InfectionsHIV-1HumansMutationPolymerase Chain ReactionPolymorphism, Restriction Fragment LengthPolymorphism, Single-Stranded ConformationalProportional Hazards ModelsReceptors, CCR2Receptors, CCR5Receptors, ChemokineReceptors, CytokineReceptors, HIVSurvival AnalysisWhite PeopleConceptsHIV-1 infectionCCR2-64IDisease progressionHIV-1 disease progressionHIV-1-infected individualsLong-term survivorsCCR2-64I alleleReceptor geneChemokine receptor genesAIDS 2CCR2 chemokineSyndrome cohortAIDS patientsCCR5-Delta32Human immunodeficiencyChemokine receptorsCCR5 variantsCCR2CCR5InfectionIndependent effectsAfrican AmericansMutant genotypesProgressionGenetic association analysisNeuropathogenesis of acquired immunodeficiency syndrome dementia
Lipton S. Neuropathogenesis of acquired immunodeficiency syndrome dementia. Current Opinion In Neurology 1997, 10: 247-253. PMID: 9229134, DOI: 10.1097/00019052-199706000-00014.Peer-Reviewed Original ResearchConceptsImmunodeficiency syndrome (AIDS) dementiaImmunodeficiency syndrome (AIDS) patientsPotential new treatmentCentral nervous systemDevelopment of therapiesAntiretroviral therapyNeuronal injuryBrain macrophagesImmunodeficiency syndromeAntiretroviral drugsNeuronal deathHuman immunodeficiencySurrogate markerClinical trialsSyndrome patientsDirect infectionCerebrospinal fluidNervous systemPast year progressNew treatmentsViral productsTherapyDementiaOne-thirdFurther characterization
1996
Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural Gene
Dean M, Carrington M, Winkler C, Huttley G, Smith M, Allikmets R, Goedert J, Buchbinder S, Vittinghoff E, Gomperts E, Donfield S, Vlahov D, Kaslow R, Saah A, Rinaldo C, Detels R, O'Brien S. Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural Gene. Science 1996, 273: 1856-1862. PMID: 8791590, DOI: 10.1126/science.273.5283.1856.Peer-Reviewed Original ResearchMeSH KeywordsAcquired Immunodeficiency SyndromeBase SequenceChromosome MappingChromosomes, Human, Pair 3Cohort StudiesDisease ProgressionGenesHemophilia AHeterozygoteHIV InfectionsHIV-1Homosexuality, MaleHomozygoteHumansImmunity, InnateMaleMolecular Sequence DataReceptors, CCR5Receptors, CytokineReceptors, HIVRisk FactorsSequence DeletionSurvival AnalysisConceptsHIV-1 infectionHIV-1-infected individualsAntibody-negative individualsCohort studyRapid progressorsHuman immunodeficiencyDisease progressionRisk groupsT lymphocytesGenetic restrictionSurvival analysisInfected individualsDeletion alleleCaucasian populationInfectionAIDSProgressionHuman chromosome 3p21Secondary receptorGroup of individualsChromosome 3p21Certain strainsDeletion homozygotesIndividualsProgressorsViral infections in short-term injection drug users: the prevalence of the hepatitis C, hepatitis B, human immunodeficiency, and human T-lymphotropic viruses.
Garfein R, Vlahov D, Galai N, Doherty M, Nelson K. Viral infections in short-term injection drug users: the prevalence of the hepatitis C, hepatitis B, human immunodeficiency, and human T-lymphotropic viruses. American Journal Of Public Health 1996, 86: 655-661. PMID: 8629715, PMCID: PMC1380472, DOI: 10.2105/ajph.86.5.655.Peer-Reviewed Original ResearchConceptsHepatitis B virusHepatitis C virusViral infectionSeroprevalence of HCVBlood-borne viral infectionsHuman T-lymphotropic virus type IShort-term injectorsHuman immunodeficiency virusSexual risk reduction interventionInjection drug usersIllicit drug injectorsRisk reduction interventionsVirus type IHepatitis CHepatitis BHIV infectionImmunodeficiency virusPrimary preventionC virusB virusHuman immunodeficiencyDrug injectionSequential cohortsDrug injectorsLymphotropic virus
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