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
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