2023
Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review
Bondarenko A, Boyarchuk O, Sakovich I, Polyakova E, Migas A, Kupchinskaya A, Opalinska A, Reich A, Volianska L, Hilfanova A, Lapiy F, Chernyshova L, Volokha A, Zabara D, Belevtsev M, Shman T, Kukharenko L, Goltsev M, Dubouskaya T, Hancharou A, Ji W, Lakhani S, Lucas C, Aleinikova O, Sharapova S. Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review. Clinical Case Reports 2023, 11: e7791. PMID: 37601427, PMCID: PMC10432584, DOI: 10.1002/ccr3.7791.Peer-Reviewed Original ResearchCD18 expressionLAD-1Effector cytotoxic T cellsPyoderma gangrenosum-like lesionsHematopoietic stem cell transplantationGangrenosum-like lesionsRespiratory tract infectionsStem cell transplantationInflammatory skin diseaseCytotoxic T cellsImmune system imbalanceType 1 deficiencyYears of ageLeukocyte adhesion deficiency (LAD) IWhole-exome sequencingAutosomal recessive disorderAutoinflammatory complicationsInfectious manifestationsTract infectionsCell transplantationRare conditionT cellsOral cavitySkin diseasesClinical cases
2021
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
Hashem H, Bucciol G, Ozen S, Unal S, Bozkaya IO, Akarsu N, Taskinen M, Koskenvuo M, Saarela J, Dimitrova D, Hickstein DD, Hsu AP, Holland SM, Krance R, Sasa G, Kumar AR, Müller I, de Sousa MA, Delafontaine S, Moens L, Babor F, Barzaghi F, Cicalese MP, Bredius R, van Montfrans J, Baretta V, Cesaro S, Stepensky P, Benedicte N, Moshous D, Le Guenno G, Boutboul D, Dalal J, Brooks JP, Dokmeci E, Dara J, Lucas CL, Hambleton S, Wilson K, Jolles S, Koc Y, Güngör T, Schnider C, Candotti F, Steinmann S, Schulz A, Chambers C, Hershfield M, Ombrello A, Kanakry JA, Meyts I. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients. Journal Of Clinical Immunology 2021, 41: 1633-1647. PMID: 34324127, PMCID: PMC8452581, DOI: 10.1007/s10875-021-01098-0.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine DeaminaseAdolescentAdultAgammaglobulinemiaBone Marrow Failure DisordersChildChild, PreschoolFemaleGraft vs Host DiseaseHematopoietic Stem Cell TransplantationHumansIntercellular Signaling Peptides and ProteinsKaplan-Meier EstimateMaleRetrospective StudiesSevere Combined ImmunodeficiencyTreatment OutcomeYoung AdultConceptsHematopoietic cell transplantationBone marrow failureImmune cytopeniasOverall survivalRefractory cytopeniaGVHD-free relapse-free survivalOutcomes of HCTNecrosis factor blockadeNew vascular eventsRelapse-free survivalTreatment of choiceAdenosine deaminase 2ADA2 enzyme activityInherited inborn errorFinal transplantVascular eventsMedian agePrimary outcomeDADA2 patientsRetrospective studyCell transplantationImmunological phenotypeDefinitive cureEffective treatmentCytopenias
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