"RIV/00023736:_____/13:00010755" . "12"^^ . "V roce 2011 byla pops\u00E1na nov\u00E1 imunodeficience postihuj\u00EDc\u00ED transkrip\u010Dn\u00ED faktor GATA-2. Tento deficit byl zji\u0161t\u011Bn u n\u011Bkolika syndrom\u016F spojen\u00FDch s v\u00FDskytem myeloidn\u00EDch malignit \u2013 myelodysplastick\u00E9ho syndromu a akutn\u00ED myeloidn\u00ED leukemie (MDS/AML). Konkr\u00E9tn\u011B jde o tyto jednotky: DCML (Deficit dendritick\u00FDch bun\u011Bk, monocyt\u016F, B lymfocyt\u016F a NK bun\u011Bk), MonoMAC (monocytopenie, B a NK lymfopenie, plicn\u00ED alveol\u00E1rn\u00ED protein\u00F3za a zv\u00FD\u0161en\u00E1 n\u00E1chylnost k infekc\u00EDm vyvolan\u00FDch papilomaviry, herpesviry a avi\u00E1rn\u00EDmi kmeny mykobakteri\u00ED), Emberger\u016Fv syndrom (mnoho\u010Detn\u00E9 bradavice, senzorineur\u00E1ln\u00ED hluchota, m\u00EDrn\u00FD dysmorfismus); a famili\u00E1ln\u00ED MDS/AML bez dal\u0161\u00EDho zn\u00E1m\u00E9ho fenotypu. Pr\u016Fkaz GATA-2 deficitu by m\u011Bl v\u00E9st k d\u016Fsledn\u00E9 monitoraci posti\u017Een\u00ED krvetvorby a k \u010Dasn\u00E9 indikaci alogenn\u00ED transplantace hematopoetick\u00FDmi bu\u0148kami v p\u0159\u00EDpad\u011B klon\u00E1n\u00ED progrese (MDS/AML)."@cs . "Hub\u00E1\u010Dek, P." . . "Salzer, U." . "Deficit transkrip\u010Dn\u00EDho faktoru GATA-2: nov\u00E1 imunodeficience se \u0161irok\u00FDm fenotypov\u00FDm spektrem: prvn\u00ED pacienti diagnostikovan\u00ED v \u010Cesk\u00E9 republice a p\u0159ehled literatury"@cs . . . "I, S, V" . "RIV/00023736:_____/13:00010755!RIV14-MZ0-00023736" . . "2" . "Deficit of GATA-2 transcription factor: new immunodeficiency syndrome with broad phenotype: first patients diagnosed in the Czech Republic and review of the literature"@en . "B lymphocyte; dendritic cells; Emberger syndrome; GATA-2 deficiency"@en . "V roce 2011 byla pops\u00E1na nov\u00E1 imunodeficience postihuj\u00EDc\u00ED transkrip\u010Dn\u00ED faktor GATA-2. Tento deficit byl zji\u0161t\u011Bn u n\u011Bkolika syndrom\u016F spojen\u00FDch s v\u00FDskytem myeloidn\u00EDch malignit \u2013 myelodysplastick\u00E9ho syndromu a akutn\u00ED myeloidn\u00ED leukemie (MDS/AML). Konkr\u00E9tn\u011B jde o tyto jednotky: DCML (Deficit dendritick\u00FDch bun\u011Bk, monocyt\u016F, B lymfocyt\u016F a NK bun\u011Bk), MonoMAC (monocytopenie, B a NK lymfopenie, plicn\u00ED alveol\u00E1rn\u00ED protein\u00F3za a zv\u00FD\u0161en\u00E1 n\u00E1chylnost k infekc\u00EDm vyvolan\u00FDch papilomaviry, herpesviry a avi\u00E1rn\u00EDmi kmeny mykobakteri\u00ED), Emberger\u016Fv syndrom (mnoho\u010Detn\u00E9 bradavice, senzorineur\u00E1ln\u00ED hluchota, m\u00EDrn\u00FD dysmorfismus); a famili\u00E1ln\u00ED MDS/AML bez dal\u0161\u00EDho zn\u00E1m\u00E9ho fenotypu. Pr\u016Fkaz GATA-2 deficitu by m\u011Bl v\u00E9st k d\u016Fsledn\u00E9 monitoraci posti\u017Een\u00ED krvetvorby a k \u010Dasn\u00E9 indikaci alogenn\u00ED transplantace hematopoetick\u00FDmi bu\u0148kami v p\u0159\u00EDpad\u011B klon\u00E1n\u00ED progrese (MDS/AML)." . . "Deficit of GATA-2 transcription factor: new immunodeficiency syndrome with broad phenotype: first patients diagnosed in the Czech Republic and review of the literature"@en . "2"^^ . . "Hru\u0161\u00E1k, O." . . "Nov\u00E1kov\u00E1, M." . "Zemanov\u00E1, Z." . "\u0160ediv\u00E1, A." . . "Defects in the zinc-finger transcription factor GATA-2 gene have been recently identified in variable phenotypes associated with myeloid malignancies - myelodysplastic syndrome and acute myeloid leukaemia (MDS/AML): DCML (dendritic cell, monocyte, B-lymphocyte and NK-lymphocyte) deficiency or MonoMAC syndrome (monocytopenia with Mycobaterium avium complex infections), Emberger syndrome (early onset primary lymphoedema, multiple warts, sensorineural deafness, dysmorphism); and familial MDS/AML with no additional known phenotype. Establishment of the diagnosis of GATA-2 deficiency should lead to closer follow-up of the affected individuals and earlier allogeneic haematopoietic stem cell transplantation in case of clonal progression (MDS/AML)."@en . . . "Deficit transkrip\u010Dn\u00EDho faktoru GATA-2: nov\u00E1 imunodeficience se \u0161irok\u00FDm fenotypov\u00FDm spektrem: prvn\u00ED pacienti diagnostikovan\u00ED v \u010Cesk\u00E9 republice a p\u0159ehled literatury" . "Mejst\u0159\u00EDkov\u00E1, E." . "\u010Cern\u00E1, Z." . . "http://www.prolekare.cz/cesko-slovenska-pediatrie-clanek/deficit-transkripcniho-faktoru-gata-2-nova-imunodeficience-se-sirokym-fenotypovym-spektrem-prvni-pacienti-d-40766" . "15"^^ . . . "Deficit transkrip\u010Dn\u00EDho faktoru GATA-2: nov\u00E1 imunodeficience se \u0161irok\u00FDm fenotypov\u00FDm spektrem: prvn\u00ED pacienti diagnostikovan\u00ED v \u010Cesk\u00E9 republice a p\u0159ehled literatury" . "V\u00EDtek, Anton\u00EDn" . "[C8CD16D58E73]" . "Deficit transkrip\u010Dn\u00EDho faktoru GATA-2: nov\u00E1 imunodeficience se \u0161irok\u00FDm fenotypov\u00FDm spektrem: prvn\u00ED pacienti diagnostikovan\u00ED v \u010Cesk\u00E9 republice a p\u0159ehled literatury"@cs . "\u010Cerm\u00E1k, Jaroslav" . . "Svobodov\u00E1, T." . . "\u010Cesko-slovensk\u00E1 pediatrie" . "0069-2328" . "Sukov\u00E1, M." . . "68155" . . "68" . . "Grimov\u00E1, J." . "Janda, A." . "CZ - \u010Cesk\u00E1 republika" . . "Star\u00FD, J." .