Novel syntaxin 11 gene (STX11) mutation in three argentinean patients with hemophagocytic lymphohistiocytosis

Journal of Clinical Immunology

Volumn 30, Issue 2, 2010, Pages 330-337

  Danielian, Silvia ^a   Basile, Natalia ^a   Rocco, Carlos ^a   Prieto, Emma ^a   Rossi, Jorge ^a   Barsotti, Darío ^a   Roche, Paul A ^b   Bernasconi, Andrea ^a   Oleastro, Matías ^a   Zelazko, Marta ^a   Braier, Jorge ^a  

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^b NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Familial hemophagocytic lymphohistiocytosis; Founder mutation; Primary immunodeficiency; Syntaxin 11 gene

Indexed keywords

ANTIBIOTIC AGENT; MEMBRANE PROTEIN; SYNTAXIN 11; UNCLASSIFIED DRUG;

ARGENTINA; ARTICLE; CASE REPORT; CHILD; CODON; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENOTYPE; HAPLOTYPE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; MICROSATELLITE MARKER; PARENT; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ARGENTINA; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INFANT; INFECTION; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; NEUTROPENIA; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; QA-SNARE PROTEINS; SEQUENCE DELETION;

EID: 77953542025     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-009-9350-4     Document Type: Article

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