Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations

Pediatric Blood and Cancer

Volumn 60, Issue 7, 2013, Pages 1215-1222

  Stepensky, Polina ^a   Bartram, Jack ^b   Barth, Thomas F ^c   Lehmberg, Kai ^d   Walther, Paul ^e   Amann, Kerstin ^f   Philips, Alan D ^g   Beringer, Ortraud ^c   Zur Stadt, Udo ^d   Schulz, Ansgar ^c   Amrolia, Persis ^b   Weintraub, Michael ^a   Debatin, Klaus Michael ^c   Hoenig, Manfred ^c   Posovszky, Carsten ^c  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY HOSPITAL ULM   (Germany)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e UNIVERSITY OF ULM   (Germany)

^f UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^g ROYAL FREE HOSPITAL   (United Kingdom)

Author keywords

Hemophagocytic; Intractable diarrhea; Lymphohistiocytosis; Microvilluos disease; MUNC18 2; Renal tubular dysfunction; Syntaxin binding protein 2

Indexed keywords

COMMON ACUTE LYMPHOBLASTIC LEUKEMIA ANTIGEN; CYTOKINE; FERRITIN; INTERLEUKIN 2 RECEPTOR ALPHA; MEMBRANE PROTEIN; SYNTAXIN BINDING PROTEIN 2; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ABDOMINAL DISTENSION; ANEMIA; ARTICLE; CELL MEMBRANE; CELL MIGRATION; CHILD; CLINICAL ARTICLE; DEHYDRATION; DIARRHEA; DISSEMINATED INTRAVASCULAR CLOTTING; EPITHELIUM CELL; FAILURE TO THRIVE; FEMALE; FERRITIN BLOOD LEVEL; FEVER; GENE MUTATION; GENITAL CANDIDIASIS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHAGOCYTIC SYNDROME; HEPATOSPLENOMEGALY; HUMAN; HYPERTRIGLYCERIDEMIA; HYPOFIBRINOGENEMIA; HYPONATREMIA; IMMUNOELECTRON MICROSCOPY; IMMUNOHISTOCHEMISTRY; INFANT; KIDNEY BIOPSY; KIDNEY TUBULE DISORDER; LEUKOCYTOSIS; LYMPHOCYTOPENIA; LYMPHOCYTOSIS; MALE; METABOLIC ACIDOSIS; NATURAL KILLER CELL; NEWBORN; PANCYTOPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEPSIS; SPLENOMEGALY; THROMBOCYTOPENIA; TRIACYLGLYCEROL BLOOD LEVEL; VOMITING;

CELL MEMBRANE; EPITHELIAL CELLS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INFANT, NEWBORN; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUNC18 PROTEINS; MUTATION; PEDIGREE; PROTEIN TRANSPORT;

EID: 84878262297     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24475     Document Type: Article

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