Defective cytotoxic lymphocyte degranulation in syntaxin-11–deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients

• Published in: Blood Vol. 110; no. 6; pp. 1906 - 1915
• Main Authors: Bryceson, Yenan T., Rudd, Eva, Zheng, Chengyun, Edner, Josefine, Ma, Daoxin, Wood, Stephanie M., Bechensteen, Anne Grete, Boelens, Jaap J., Celkan, Tiraje, Farah, Roula A., Hultenby, Kjell, Winiarski, Jacek, Roche, Paul A., Nordenskjöld, Magnus, Henter, Jan-Inge, Long, Eric O., Ljunggren, Hans-Gustaf
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 15.09.2007; American Society of Hematology
• Series: Immunobiology
• Subjects: Adult; Blotting, Western; Cell Proliferation; Child, Preschool; Cytokines - metabolism; Female; Gene Expression Regulation; Homeodomain Proteins - genetics; Homeodomain Proteins - metabolism; Humans; Immunobiology; Infant; Intracellular Signaling Peptides and Proteins - genetics; Intracellular Signaling Peptides and Proteins - metabolism; Killer Cells, Natural - cytology; Killer Cells, Natural - metabolism; LIM Domain Proteins; LIM-Homeodomain Proteins; Lymphocyte Subsets; Lymphocytes - cytology; Lymphocytes - metabolism; Lymphohistiocytosis, Hemophagocytic - genetics; Lymphohistiocytosis, Hemophagocytic - metabolism; Lymphohistiocytosis, Hemophagocytic - pathology; Male; Membrane Glycoproteins - genetics; Membrane Glycoproteins - metabolism; Membrane Proteins - genetics; Membrane Proteins - metabolism; Muscle Proteins - genetics; Muscle Proteins - metabolism; Mutation - genetics; Perforin; Pore Forming Cytotoxic Proteins - genetics; Pore Forming Cytotoxic Proteins - metabolism; Qa-SNARE Proteins - genetics; Qa-SNARE Proteins - metabolism; Reverse Transcriptase Polymerase Chain Reaction; Transcription Factors - genetics; Transcription Factors - metabolism

Familial hemophagocytic lymphohistiocytosis (FHL) is typically an early onset, fatal disease characterized by a sepsislike illness with cytopenia, hepatosplenomegaly, and deficient lymphocyte cytotoxicity. Disease-causing mutations have been identified in genes encoding perforin (PRF1/FHL2), Munc13-...