GATA2 germline mutations impair GATA2 transcription, causing haploinsufficiency: Functional analysis of the p.Arg396Gln mutation

Journal of Immunology

Volumn 194, Issue 5, 2015, Pages 2190-2198

  Cortés Lavaud, Xabier ^a   Landecho, Manuel F ^b   Maicas, Miren ^a   Urquiza, Leire ^a   Merino, Juana ^b   Moreno Miralles, Isabel ^a   Odero, María D ^a  

^a UNIVERSITY OF NAVARRA   (Spain)

^b UNIVERSITY CLINIC OF NAVARRA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIVIRUS AGENT; CARDIOLIPIN ANTIBODY; CRYOGLOBULIN; DNA; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; LEVOFLOXACIN; PERFORIN; QUINOLONE; TRANSCRIPTION FACTOR GATA 2; GATA2 PROTEIN, HUMAN; PROTEIN BINDING;

ADULT; ANTIPHOSPHOLIPID SYNDROME; ARTICLE; ATYPICAL MYCOBACTERIOSIS; BONE MARROW BIOPSY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL DIFFERENTIATION; CHROMATIN IMMUNOPRECIPITATION; CONTROLLED STUDY; CYTOMEGALOVIRUS INFECTION; DNA BINDING; FEMALE; GATA2 GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GERMLINE MUTATION; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; IMMUNOPHENOTYPING; LARGE GRANULAR LYMPHOCYTE; LEUKOPENIA; LOSS OF FUNCTION MUTATION; LUCIFERASE ASSAY; MIDDLE AGED; MONOCYTOPENIA; MOUSE; NATURAL KILLER CELL; NONHUMAN; PNEUMONIA; PRIORITY JOURNAL; THROMBOCYTOPENIA; ALLELE; BINDING SITE; CHEMICAL STRUCTURE; COMPLICATION; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; IMMUNE DEFICIENCY; IMMUNOLOGY; MYCOBACTERIUM AVIUM COMPLEX; PATHOLOGY; PHENOTYPE; PROMOTER REGION; SIGNAL TRANSDUCTION; TUMOR CELL LINE;

ALLELES; BINDING SITES; CELL LINE, TUMOR; FEMALE; GATA2 TRANSCRIPTION FACTOR; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HAPLOINSUFFICIENCY; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MIDDLE AGED; MODELS, MOLECULAR; MYCOBACTERIUM AVIUM COMPLEX; MYCOBACTERIUM AVIUM-INTRACELLULARE INFECTION; PHENOTYPE; PROMOTER REGIONS, GENETIC; PROTEIN BINDING; SIGNAL TRANSDUCTION; TRANSCRIPTION, GENETIC;

EID: 84924362999     PISSN: 00221767     EISSN: 15506606     Source Type: Journal    
DOI: 10.4049/jimmunol.1401868     Document Type: Article

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