Analyses of the prf1 gene in individuals with hemophagocytic lymphohystiocytosis reveal the common haplotype R54C/A91V in colombian unrelated families associated with late onset disease

Journal of Clinical Immunology

Volumn 32, Issue 4, 2012, Pages 670-680

  Sánchez, Isaura P ^a   Leal Esteban, Lucía C ^a   Álvarez Álvarez, Jesús A ^a   Pérez Romero, Camilo A ^a   Orrego, Julio C ^a   Serna, Malyive L ^b   Coll, Yadira ^a,c   Caicedo, Yolanda ^d   Pardo Díaz, Edwin ^d   Zimmer, Jacques ^e   Bleesing, Jack J ^f   Franco, José L ^a   Trujillo Vargas, Claudia M ^a  

^a UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^b Pediatric Service of Hematology Oncology   (Colombia)

^c Section of Neuro oncology   (Colombia)

^d UNIVERSIDAD DEL VALLE   (Colombia)

^e LUXEMBOURG INSTITUTE OF HEALTH   (Luxembourg)

^f CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Familial hemophagocytic lymphohistiocytosis type 2; NK cells; Perforin; PRF1 gene

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; AMIKACIN; AMPHOTERICIN B; ASPARTATE AMINOTRANSFERASE; CEFEPIME; CEFTRIAXONE; CORTICOSTEROID; COTRIMOXAZOLE; FLUCONAZOLE; GAMMA GLUTAMYLTRANSFERASE; GENOMIC DNA; GENTAMICIN; IMMUNOGLOBULIN G; MEROPENEM; PERFORIN; PIPERACILLIN PLUS TAZOBACTAM; PYRIMETHAMINE; SULFADOXINE; TUBERCULOSTATIC AGENT; VANCOMYCIN;

ARTICLE; ASTHENIA; ATAXIA; BONE MARROW BIOPSY; CASE REPORT; CHILD; CHILDHOOD; COLOMBIA; CONTROLLED STUDY; CORD BLOOD STEM CELL TRANSPLANTATION; COUGHING; CYTOTOXICITY; EPSTEIN BARR VIRUS INFECTION; ERYTHROPHAGOCYTOSIS; FEMALE; FEVER; FLOW CYTOMETRY; GENE; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHAGOCYTIC SYNDROME; HEPATOSPLENOMEGALY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERFERRITINEMIA; HYPOFIBRINOGENEMIA; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOPHENOTYPING; INFANT; LABORATORY TEST; LEUKOPENIA; LYMPH NODE BIOPSY; LYMPHOCYTE COUNT; MALE; MASTOIDITIS; MYCOBACTERIUM TUBERCULOSIS; NEUTROPENIA; NUCLEOTIDE SEQUENCE; NYSTAGMUS; ONSET AGE; PANCYTOPENIA; PERCEPTION DEAFNESS; PNEUMONIA; PRESCHOOL CHILD; PRF1 GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REMISSION; SCHOOL CHILD; SPLENOMEGALY; THROMBOCYTOPENIA; THRUSH; TONIC CLONIC SEIZURE; TOXOPLASMOSIS; TREATMENT DURATION; TRIACYLGLYCEROL BLOOD LEVEL; TUBERCULOSIS; UVEITIS; VIRUS LOAD; WHEEZING;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; COLOMBIA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFANT; KILLER CELLS, NATURAL; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS; MUTATION; PORE FORMING CYTOTOXIC PROTEINS;

EID: 84863982295     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-012-9680-5     Document Type: Article

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