Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis
Meazza R, Tuberosa C, Cetica V, Falco M, Parolini S, Grieve S, Griffiths G, Sieni E, Marcenaro S, Micalizzi C, Montin D, Fagioli F, Moretta A, Mingari M, Moretta L, Notarangelo L, Bottino C, Aricò M, Pende D. Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis. Journal Of Allergy And Clinical Immunology 2014, 134: 1381-1387.e7. PMID: 24985396, PMCID: PMC7611500, DOI: 10.1016/j.jaci.2014.04.043.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAntigens, CDChildChild, PreschoolFemaleHumansInfantIntracellular Signaling Peptides and ProteinsKiller Cells, NaturalLeukocytes, MononuclearLymphohistiocytosis, HemophagocyticLymphoproliferative DisordersMaleMutationReceptors, ImmunologicSignaling Lymphocytic Activation Molecule Associated ProteinSignaling Lymphocytic Activation Molecule FamilyYoung AdultConceptsX-linked lymphoproliferative disease 1Signaling lymphocytic activation molecule-associated proteinSignaling lymphocytic activation molecule-associated protein expressionHemophagocytic lymphohistiocytosisSH2D1A mutationsNatural killerNK cellsSAP expressionPeripheral blood NK cellsMutation analysisRange of healthy controlsBlood NK cellsNK cell levelsImpaired natural killerCohort of patientsEBV-infected cellsDefective killingCellular cytotoxicityHealthy controlsDiagnostic evaluationLife-threateningSH2D1ADisease 1Prompt identificationPatients
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply