A Syndrome of Hypocalciuric Hypercalcemia Caused by Autoantibodies Directed at the Calcium-Sensing Receptor
Kifor O, Moore FD, Delaney M, Garber J, Hendy GN, Butters R, Gao P, Cantor TL, Kifor I, Brown EM, Wysolmerski J. A Syndrome of Hypocalciuric Hypercalcemia Caused by Autoantibodies Directed at the Calcium-Sensing Receptor. The Journal Of Clinical Endocrinology & Metabolism 2003, 88: 60-72. PMID: 12519831, DOI: 10.1210/jc.2002-020249.Peer-Reviewed Original ResearchMeSH KeywordsAdultAutoantibodiesBlood Physiological PhenomenaBlotting, WesternCalciumCell LineEnzyme ActivationExtracellular SpaceFemaleHumansHypercalcemiaImmunoglobulinsInositol PhosphatesMiddle AgedMitogen-Activated Protein KinasesParathyroid GlandsParathyroid HormonePedigreePeptide FragmentsReceptors, Calcium-SensingReceptors, Cell SurfaceSyndromeConceptsPTH-dependent hypercalcemiaFamilial hypocalciuric hypercalcemiaHeterozygous inactivating mutationsHypocalciuric hypercalcemiaPTH releaseParathyroid cellsCaR's extracellular domainPatient seraExtracellular amino terminusAnti-CaR antiserumNormocalcemic control subjectsHuman parathyroid cellsBovine parathyroid cellsCalcium-sensing receptorAnti-CAR antibodyCaR-transfected HEK293 cellsInactivating mutationEffect of serumExtracellular domainAntithyroid antibodiesAutoimmune manifestationsEndocrine dysfunctionControl subjectsBlood calciumCaR gene