A heterozygous RAB27A mutation associated with delayed cytolytic granule polarization and hemophagocytic lymphohistiocytosis

Journal of Immunology

Volumn 196, Issue 6, 2016, Pages 2492-2503

  Zhang, Mingce ^a   Bracaglia, Claudia ^b   Prencipe, Giusi ^b   Bemrich Stolz, Christina J ^c   Beukelman, Timothy ^a,d   Dimmitt, Reed A ^e   Chatham, W Winn ^d   Zhang, Kejian ^f   Li, Hao ^d   Walter, Mark R ^g   De Benedetti, Fabrizio ^b   Grom, Alexei A ^f   Cron, Randy Q ^a,d  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c University of Alabama at Birmingham   (United States)

^d The University of Alabama at Birmingham   (United States)

^e University of Alabama at Birmingham   (United States)

^f UNIVERSITY OF CINCINNATI   (United States)

^g University of Alabama at Birmingham   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GRANZYME B; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; MEMBRANE PROTEIN; MUNC13-4 PROTEIN; RAB27A PROTEIN; UNCLASSIFIED DRUG; RAB PROTEIN; RAB27A PROTEIN, HUMAN;

ARTICLE; CONJUGATION; CONTROLLED STUDY; CYTOLYSIS; DEGRANULATION; HEMOPHAGOCYTIC SYNDROME; HETEROZYGOTE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTANT; NATURAL KILLER CELL; POLARIZATION; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SYNAPSE; VIRUS EXPRESSION; WILD TYPE; ADOLESCENT; CASE REPORT; CELL GRANULE; CELL LINE; CONFOCAL MICROSCOPY; FEMALE; GENETIC TRANSDUCTION; GENETICS; IMMUNOLOGY; IMMUNOPRECIPITATION; MALE; METABOLISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; CELL DEGRANULATION; CELL LINE; CYTOPLASMIC GRANULES; FEMALE; HETEROZYGOTE; HUMANS; IMMUNOPRECIPITATION; KILLER CELLS, NATURAL; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MICROSCOPY, CONFOCAL; MUTATION, MISSENSE; RAB GTP-BINDING PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSDUCTION, GENETIC;

EID: 84962503767     PISSN: 00221767     EISSN: 15506606     Source Type: Journal    
DOI: 10.4049/jimmunol.1501284     Document Type: Article

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