Defective CD107a Surface Expression Heralds Munc13-4 Defect and Discriminates between Genetic Subtypes of Familial Hemophagocytic Lymphohistiocytosis (FHL).
Aricò M, Marcenaro S, Gallo F, Martini S, Santoro A, Griffiths G, Moretta L, Pende D. Defective CD107a Surface Expression Heralds Munc13-4 Defect and Discriminates between Genetic Subtypes of Familial Hemophagocytic Lymphohistiocytosis (FHL). Blood 2006, 108: 1248. DOI: 10.1182/blood.v108.11.1248.1248.Peer-Reviewed Original ResearchFamilial hemophagocytic lymphohistiocytosisNK cellsCD107a expressionFHL3 patientsNatural killerIL-2Genetic subtypesB-EBV cell linesCell surface CD107a expressionSurface expression of CD107aCases of HLHInvestigated natural killerSurface CD107a expressionExpression of CD107aNK cell populationCD56+ cellsNK cell defectPolyclonal NK cellsCentral nervous system alterationsLyse target cellsAnalysis of PBMCsCo-CultureInfiltration of lymphocytesNervous system alterationsMunc13-4 protein
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