Editorial: Recent progress in understanding the congenital neutropenias

Current Opinion in Hematology

Volumn 17, Issue 1, 2010, Pages 1-2

  Dale, David C ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

APOPTOSIS; EDITORIAL; ENZYME DEFECT; GENE MUTATION; GLYCOGEN STORAGE DISEASE; HUMAN; NEUTROPENIA; PRIORITY JOURNAL;

HUMANS; NEUTROPENIA;

EID: 73849132992     PISSN: 10656251     EISSN: 15317048     Source Type: Journal    
DOI: 10.1097/MOH.0b013e328333d2b7     Document Type: Editorial

References (13)

1. Ward AC, Dale DC. Genetic and molecular diagnosis of severe congenital neutropenia. Curr Opin Hematol 2009; 16:9-13.
2. 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; 144:459-467.
3. Hutton JC, O'Brien RM. Glucose-6-phosphatase catalytic subunit gene family. J Biol Chem 2009; 284:29241-29245.
4. Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009; 360:32-43.
5. Haurie C, Dale DC, Mackey MC. Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models. Blood 1998; 92:2629-2640.
6. Carlsson G, Melin M, Dahl N, et al. Kostmann syndrome of infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatr 2007; 96:813-819.
7. Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007; 39:86-92.
8. Dale DC, Link DC. The many causes of severe congenital neutropenia. N Engl J Med 2009; 360:3-5.
9. Aprikyan AA, Kutyavin T, Stein S, et al. Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia. Exp Hematol 2003; 31:372-381.
10. Xia J, Link DC. Severe congenital neutropenia and the unfolded protein response. Curr Opin Hematol 2008; 15:1-7.
11. Beel K, Cotter MM, Blatny J, et al. A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. Br J Haematol 2009; 144:120-126.
12. Rosenberg PS, Alter BP, Link DC, et al. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol 2008; 140: 210-213.
13. Zeidler C, Donadieu J, Bolyard AA, et al. Update on the risk of leukemia in genetic subgroups of congenital neutropenia (CN): comparison of patients with known gene mutations (ELA2, HAX1, WAS, G6PC3, p14). Annu Program, Am Soc Hematol 2009 (in press).