TY  - JOUR
T1  - Konjenital nötropeni: İki vaka sunumu
AU  - İnce Durhan, Banu
PY  - 2022
DA  - June
Y2  - 2022
JF  - Mersin Üniversitesi Sağlık Bilimleri Dergisi
JO  - Mersin Univ Saglık Bilim Derg
PB  - Mersin Üniversitesi
WT  - DergiPark
SN  - 1308-0830
SP  - 28
EP  - 31
VL  - 15
IS  - (Özel Sayı-1) 21. Mersin Pediatri Günleri Bildiri Kitabı
LA  - tr
AB  - Ağır konjenital nötropeni (AKN)  yaşamın ilk haftalarında ortaya çıkan ve bebeklik döneminden itibaren yaşamı tehdit eden bakteriyel enfeksiyonlar ile karakterize, mutlak nötrofil sayısının(MNS)
KW  - Konjenital
KW  - nötropeni
KW  - vaka
CR  - 1.	Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: Diagnosis, molecular bases and patient management. Orphanet J Rare Dis 2011;6:26.
CR  - 2.	Hauck F, Klein C. Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. Curr Opin Allergy Clin Immunol 2013; 13: 596-606.
CR  - 3.	Özbek N. Konjenital nötropenilere genetik bakış. TJH 2009; 26: 1-8.
CR  - 4.	Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 2009;144:459-67.
CR  - 5.	Kostmann R. İnfantile genetic agranulocytosis. Acta Pediatr Scand 1956; 45:1-78.
CR  - 6.	Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotypephenotype associations. Blood 2008; 111:4954–7.
CR  - 7.	Karaca NE, Aksu G, Gülez N, Azarsız E, Kavaklı K, Klein C, et al. Clinical, Laboratory and Molecular Approach to Ten Children with Congenital Neutropenia. J Pediat Res 2016;3:7-12.
CR  - 8.	Carlsson G, van’t Hooft I, Melin M, Entesarian M, Laurencikas E, Nennesmo I, et al. Central nervous system involvement in severe congenital neutropenia: Neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 2008; 264:388–400.
CR  - 9.	Dale DC, Bolyard AA, Schwinzer BG, Pracht G, Bonilla MA, Boxer L, et al. The severe chronic neutropenia international registry: 10- year follow-up report. Support Cancer Ther 2006;3:220-31.
CR  - 10.	Cottle TE, Fier CJ, Donadieu J, Kinsey SE. Risk and benefit of treatment of severe chronic neutropenia with granulocyte colony stimulating factor. Semin Hematol 2002; 39:134-40.
CR  - 11.	Rosenberg PS, Zeidler C, Bolyard AA, et al. Stable long term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol 2010; 150: 196-9.
CR  - 12.	James A Connelly 1, Sung W Choi, John E Levine. Hematopoietic stem cell transplantation for severe congenital neutropenia. Curr Opin Hematol. 2012 Jan;19(1):44-51.
UR  - https://dergipark.org.tr/tr/pub/mersinsbd/issue//1120637
L1  - https://dergipark.org.tr/tr/download/article-file/2444511
ER  -