H e m a t o lo g y E d u c a t io n - European Hematology Association

Currently the epistatic relationships between these
variant proteins and their role in governing differentiation
and homeostasis of neutrophil granulocytes remain
obscure. Cross-species perspectives may open novel
horizons in our understanding of life and death of neutrophil
granulocytes. 7,27
References
1. Ehrlich P, Methodologische Beiträge zur Physiologie und
Pathologie der verschiedenen Formen der Leukocyten. Z Klin
Med. 1879;1:553-60.
2. Metschnikoff E, Arb. Zool. Inst. Univ. Wien u. Zool. Stat.
Triest. 1884; 5:141-68.
3. Brown PK, A fatal case of acute primary infectious pharyngitis
with extreme leukopenia. Am Med. 1902;3:649-52.
4. Schultz W. Über eigenartige Halserkrankungen. Dtsch Med
Wochenschr. 1922;8:1495-8.
5. Kostmann R. Hereditär reticulos - en ny systemsjukdom.
Svenska Laekartidningen. 1950;47:2861-8.
6. Kostmann R. Infantile genetic agaranulocytosis; agranulocytosis
infantilis hereditaria. Acta Paediatr Suppl. 1956;45:1-78.
7. Klein C. Genetic Defects in Severe Congenital Neutropenia:
Emerging Insights into Life andDeath of Human Neutrophil
Granulocytes. Annu Rev Immunol. 2011;29:399-413
8. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC.
Mutations in ELA2, encoding neutrophil elastase, define a 21day
biological clock in cyclic haematopoiesis. Nat Genet.
1999;23(4):433-6.
9. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C,
Bonilla MA, et al. Mutations in the gene encoding neutrophil
elastase in congenital and cyclic neutropenia. Blood.
2000;96(7):2317-22.
10. Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME,
Salipante SJ. Neutrophil elastase in cyclic and severe congenital
neutropenia. Blood. 2007;109(5):1817-24.
11. Ron D, Walter P. Signal integration in the endoplasmic reticulum
unfolded protein response. Nat Rev Mol Cell Biol.
2007;8(7):519-29.
12. Grenda DS, Murakami M, Ghatak J, Xia J, Boxer LA, Dale D,
et al. Mutations of the ELA2 gene found in patients with
severe congenital neutropenia induce the unfolded protein
response and cellular apoptosis. Blood, 2007;110(13):4179-87.
13. Kollner I, Sodeik B, Schreek S, Heyn H, von Neuhoff N,
Germeshausen M, et al. Mutations in neutrophil elastase causing
congenital neutropenia lead to cytoplasmic protein accumulation
and induction of the unfolded protein response.
Blood, 2006;108(2):493-500.
14. Klein C, Grudzien M, Appaswamy G, Germeshausen M,
Sandrock I, Schaffer AA, et al., HAX1 deficiency causes autosomal
recessive severe congenital neutropenia (Kostmann disease).
Nat Genet. 2007;39(1):86-92.
15. 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
genotype-phenotype associations. Blood. 2008;111(10):4954-7.
16. Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki
HA, et al. Mutations in proto-oncogene GFI1 cause human
neutropenia and target ELA2. Nat Genet. 2003;34(3):308-12.
17. Phelan JD, Shroyer NF, Cook T, Gebelein B, Grimes HL. Gfi1cells
and circuits: unraveling transcriptional networks of development
and disease. Curr Opin Hematol. 2010;17(4):300-7.
18. Heyd F, ten Dam G, Moroy T. Auxiliary splice factor U2AF26
and transcription factor Gfi1 cooperate directly in regulating
CD45 alternative splicing. Nat Immunol. 2006;7(8):859-67.
19. Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van
Den Oord JJ, et al. Constitutively activating mutation in WASP
causes X-linked severe congenital neutropenia. Nat Genet.
2001;27(3):313-7.
20. Moulding DA, Blundell MP, Spiller DG, White MR, Cory GO,
Calle Y, et al. Unregulated actin polymerization by WASp
causes defects of mitosis and cytokinesis in X-linked neutropenia.
J Exp Med. 2007;204(9):2213-24.
21. Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van
Schaftingen E. Sequence of a putative glucose 6-phosphate
translocase, mutated in glycogen storage disease type Ib. FEBS
Lett. 1997;419(2-3):235-8.
22. Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U,
Diestelhorst J, et al. A syndrome with congenital neutropenia
and mutations in G6PC3. N Engl J Med. 2009;360(1):32-43.
London, United Kingdom, June 9-12, 2011
23. Dell’Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA,
Bonifacino JS. Altered trafficking of lysosomal proteins in
Hermansky-Pudlak syndrome due to mutations in the beta 3A
subunit of the AP-3 adaptor. Mol Cell. 1999;3(1):11-21.
24. Clericuzio C, Hoyme HE, Asse JM. Immune deficient poikiloderma:
A new genodermatosis. Am J Hum Genet. 1991;49
(Suppl):A661.
25. Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D,
Calabria A, et al. Targeted next-generation sequencing
appoints c16orf57 as clericuzio-type poikiloderma with neutropenia
gene. Am J Hum Genet. 2010;86(1):72-6.
26. Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD,
McLean WH, et al. Identification of a novel C16orf57 mutation
in Athabaskan patients with Poikiloderma with
Neutropenia. Am J Med Genet. 2011 155:337-42
27. Schaffer AA, Klein C. Genetic heterogeneity in severe congenital
neutropenia: how many aberrant pathways can kill a neutrophil?
Curr Opin Allergy Clin Immunol. 2007;7(6):481-94.
28. Tkalcevic J, Novelli M, Phylactides M, Iredale JP, Segal AW,
Roes J. Impaired immunity and enhanced resistance to endotoxin
in the absence of neutrophil elastase and cathepsin G.
Immunity. 2000;12(2):201-10.
29. Grenda DS, Johnson SE, Mayer JR, McLemore ML, Benson KF,
Horwitz M, et al. Mice expressing a neutrophil elastase mutation
derived from patients with severe congenital neutropenia
have normal granulopoiesis. Blood. 2002;100(9):3221-8.
30. Chao JR, Parganas E, Boyd K, Hong CY, Opferman JT, Ihle JN.
Hax1-mediated processing of HtrA2 by Parl allows survival of
lymphocytes and neurons. Nature. 2008;452(7183):98-102.
31. Zarebski A, Velu CS, Baktula AM, Bourdeau T, Horman SR, Basu
S, et al. Mutations in growth factor independent-1 associated
with human neutropenia block murine granulopoiesis through
colony stimulating factor-1. Immunity. 2008;28(3):370-80.
32. Hock H, Hamblen MJ, Rooke HM, Traver D, Bronson RT,
Cameron S, et al. Intrinsic requirement for zinc finger transcription
factor Gfi-1 in neutrophil differentiation. Immunity.
2003;18(1):109-20.
33. Snapper SB, Rosen FS, Mizoguchi E, Cohen P, Khan W, Liu CH,
et al. Wiskott-Aldrich syndrome protein-deficient mice reveal a
role for WASP in T but not B cell activation. Immunity. 1998;
9(1):81-91.
34. Westerberg LS, Meelu P, Baptista M, Eston MA, Adamovich
DA, Cotta-de-Almeida V, et al. Activating WASP mutations
associated with X-linked neutropenia result in enhanced actin
polymerization, altered cytoskeletal responses, and genomic
instability in lymphocytes. J Exp Med. 2010;207(6):1145-52.
35. Lee, HJ, Pyo JO, Oh Y, Kim HJ, Hong SH, Jeon YJ, et al. AK2 activates
a novel apoptotic pathway through formation of a complex
with FADD and caspase-10. Nat Cell Biol. 2007;9(11):1303-10.
36. Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump
EM, et al. Reticular dysgenesis (aleukocytosis) is caused by
mutations in the gene encoding mitochondrial adenylate
kinase 2. Nat Genet. 2009;41(1):101-5.
37. Fujisawa K, Murakami R, Horiguchi T, Noma T, Adenylate
kinase isozyme 2 is essential for growth and development of
Drosophila melanogaster. Comp Biochem Physiol B Biochem
Mol Biol. 2009;153(1):29-38.
38. Cheung YY, Kim SY, Yiu WH, Pan CJ, Jun HS, Ruef RA, et al.
Impaired neutrophil activity and increased susceptibility to
bacterial infection in mice lacking glucose-6-phosphatasebeta.
J Clin Invest. 2007;117(3):784-93.
39. Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, et
al. Mutations associated with neutropenia in dogs and
humans disrupt intracellular transport of neutrophil elastase.
Nat Genet. 2003;35(1):90-6.
40. Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis
S, et al. Mutations in RAB27A cause Griscelli syndrome associated
with haemophagocytic syndrome. Nat Genet. 2000;
25(2):173-6.
41. Wilson SM, Yip R, Swing DA, O’Sullivan TN, Zhang Y, Novak
EK, et al. A mutation in Rab27a causes the vesicle transport
defects observed in ashen mice. Proc Natl Acad Sci U S A.
2000;97(14):7933-8.
42. Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC,
Blaydes SM, et al. Identification of the homologous beige and
Chediak-Higashi syndrome genes. Nature. 1996;382(6588):262-5.
43. Nagele U, Anastasiadis AG, Merseburger AS, Hennenlotter J,
Horstmann M, Sievert KD, et al. Surgical approach in patients
with T4 bladder cancer as primary treatment: Disaster or option
with improved quality of life. Indian J Urol. 2008;24(1):95-8.
44. Perou CM, Moore KJ, Nagle DL, Misumi DJ, Woolf EA,
McGrail SH, et al. Identification of the murine beige gene by
YAC complementation and positional cloning. Nat Genet.
1996;13(3):303-8.
Hematology Education: the education programme for the annual congress of the European Hematology Association | 2011; 5(1) | 149 |