New insights into the genetics of congenital neutropenia

Turkish Journal of Hematology

Volumn 26, Issue 1, 2009, Pages 1-8

  Özbek, Namik ^a,b  

^a BASKENT UNIVERSITY   (Turkey)

^b NONE   (Turkey)

Author keywords

Congenital neutropenia; Molecular basis; Myelopoiesis; RNA processing

Indexed keywords

ADAPTOR PROTEIN; ADAPTOR PROTEIN 3 B1; BRUTON TYROSINE KINASE; CD40 ANTIGEN; CD40 LIGAND; CHEMOKINE RECEPTOR CXCR4; ELASTASE II; GENE PRODUCT; GLUCOSE 6 PHOSPHATE TRANSLOCASE; GRANULOCYTE COLONY STIMULATING FACTOR RECEPTOR; LEUKOCYTE ELASTASE; LYSOSOMAL TRAFFICKING REGULATOR PROTEIN; MESSENGER RNA; PROTEIN COH1; PROTEIN GFI1; PROTEIN HAX1; PROTEIN SDBS; PROTEIN TAZ; PROTEIN WAS; RAB27A PROTEIN; RIBOSOME RNA; RNASE MITOCHONDRIAL RNA PROCESSING RNA; SMALL NUCLEAR RNA; STAT5 PROTEIN; UNCLASSIFIED DRUG;

APOPTOSIS; AUTOSOMAL RECESSIVE INHERITANCE; BARTH SYNDROME; CARTILAGE HAIR HYPOPLASIA; CHEDIAK HIGASHI SYNDROME; CHONDRODYSPLASIA; COHEN SYNDROME; CONGENITAL NEUTROPENIA; ENDOPLASMIC RETICULUM; ENZYME LOCALIZATION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 1; GRISCELLI SYNDROME; HUMAN; HYPER IGM SYNDROME; MALIGNANT TRANSFORMATION; MITOCHONDRIAL MEMBRANE POTENTIAL; MUTAGENESIS; MYELOPOIESIS; NEUTROPENIA; NEUTROPHIL; PATHOPHYSIOLOGY; PROTEIN FOLDING; REVIEW; RNA CLEAVAGE; RNA PROCESSING; SHWACHMAN SYNDROME; TRANSCRIPTION INITIATION; WHIM SYNDROME; X LINKED AGAMMAGLOBULINEMIA;

EID: 66949132214     PISSN: 13007777     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (64)

1. Shende A. Disorders of white blood cells. In: Lanzkowsky P, editor. Manual of Pediatric Hematology and Oncology. 4th ed. California: Elsevier, 2005:209-49.
2. Kostmann R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl 1956;45(Suppl 105):1-78.
3. Dinauer MC. The phagocyte system and disorders of granulopoiesis and granulocyte function. In: Nathan DG, Orkin SH, Ginsburg D, Look AT, editors. Nathan and Oski's Hematology of Infancy and Childhood. 6th ed. Philadelphia: Saunders, 2003:923-1010.
4. Zeidler C. Congenital neutropenias. Hematology 2005;10 (Suppl 1):306-11.
5. Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, Sherkat R, Aghamohammadi A, Yeganeh M, Mahmoudi M, Mahjoub F, Germeshausen M, Grudzien M, Horwitz MS, Klein C, Farhoudi A. The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol 2007;27:525-33.
6. Leale M. Recurrent furunculosis in an infant showing an unusual blood picture. JAMA 1910;54:1854-5.
7. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000;96:2317-22.
8. Boxer LA, Stein S, Buckley D, Bolyard AA, Dale DC. Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. J Pediatr 2006;148:633-6.
9. Ancliff PJ, Gale RE, Watts MJ, Liesner R, Hann IM, Strobel S, Linch DC. Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. Blood 2002;100:707-9.
10. Bellanne-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood 2004; 103:4119-25.
11. Lane AA, Ley TJ. Neutrophil elastase cleaves PML-RAR-alpha and is important for the development of acute promyelocytic leukemia in mice. Cell 2003;115:305-18.
12. Belaaouaj A, McCarthy R, Baumann M, Gao Z, Ley TJ, Abraham SN, Shapiro SD. Mice lacking neutrophil elastase reveal impaired host defense against gram negative bacterial sepsis. Nat Med 1998;4:615-8.
13. Horwitz M, Benson KF, Duan Z, Li FQ, Person RE. Hereditary neutropenia: dogs explain human neutrophil elastase mutations. Trends Mol Med 2004;10:163-70.
14. 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;3:11-21.
15. Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki HA, Eliopoulos G, Kaufman C, Bertolone SJ, Nakamoto B, Papayannopoulou T, Grimes HL, Horwitz M. Mutations in protooncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003;34:308-12.
16. Duan Z, Horwitz M. Targets of the transcriptional repressor oncoprotein Gfi-1. Proc Natl Acad Sci U S A 2003;100:5932-7.
17. Köllner I, Sodeik B, Schreek S, Heyn H, von Neuhoff N, Germeshausen M, Zeidler C, Krüger M, Schlegelberger B, Welte K, Beger C. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood 2006;108:493-500.
18. Xia J, Link DC. Severe congenital neutropenia and the unfolded protein response. Curr Opin Hematol 2008;15:1-7.
19. Ron D, Walter P. Signal integration in the endoplasmic reticulum unfolded protein response. Nat Rev Mol Cell Biol 2007;8:519-29.
20. Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 1999;23:433-6.
21. Krance RA, Spruce WE, Forman SJ, Rosen RB, Hecht T, Hammond WP, Blume KG. Human cyclic neutropenia transferred by allogeneic bone marrow grafting. Blood 1982;60:1263-6.
22. Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007;109:1817-24.
23. Leitch HA, Levy JG. Reversal of CAMAL mediated alterations of normal and leukemic in vitro myelopoiesis using inhibitors of proteolytic activity. Leukemia 1994;8:605-11.
24. El Ouriaghli F, Fujiwara H, Melenhorst JJ, Sconocchia G, Hensel N, Barrett AJ. Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis. Blood 2003;101:1752-8.
25. Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007;39:86-92.
26. Suzuki Y, Demoliere C, Kitamura D, Takeshita H, Deuschle U, Watanabe T. HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases. J Immunol 1997;158:2736-44.
27. Skokowa J, Cario G, Uenalan M, Schambach A, Germeshausen M, Battmer K, Zeidler C, Lehmann U, Eder M, Baum C, Grosschedl R, Stanulla M, Scherr M, Welte K. LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med 2006;12:1191-7.
28. Love JJ, Li X, Case DA, Giese K, Grosschedl R, Wright PE. Structural basis for DNA bending by the architectural transcription factor LEF-1. Nature 1995;376:791-5.
29. Rosenberg PS, Alter BP, Bolyard AA Bonilla MA, Boxer LA, Cham B, Fier C, Freedman M, Kannourakis G, Kinsey S, Schwinzer B, Zeidler C, Welte K, Dale DC; Severe Chronic Neutropenia International Registry. The incidence of leukemia and mortality from sepsis in patients with severe CN receiving long-term G-CSF therapy. Blood 2006;107:4628-35.
30. Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood 2004; 103:4119-25.
31. Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, Ballmaier M, Grimbacher B, Welte K, Klein C. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008;111:4954-7.
32. Sloand EM, Yong AS, Ramkissoon S, Solomou E, Bruno TC, Kim S, Fuhrer M, Kajigaya S, Barrett AJ, Young NS. Granulocyte colony-stimulating factor preferentially stimulates proliferation of monosomy 7 cells bearing the isoform IV receptor. Proc Natl Acad Sci U S A 2006;103:14483-8.
33. Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood 2007;109:93-9.
34. Liu F, Kunter G, Krem MM, Eades WC, Cain JA, Tomasson MH, Hennighausen L, Link DC. Csf3r mutations in mice confer a strong clonal HSC advantage via activation of Stat5. J Clin Invest 2008;118:946-55.
35. Shwachman H, Diamond LK, Oski FA, Khaw KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 1964;65:645-63.
36. Bodian M, Sheldon W, Lightwood R. Congenital hypoplasia of the exocrine pancreas. Acta Paediatr 1964;53:282-93.
37. Shimamura A. Shwachman-Diamond syndrome. Semin Hematol 2006;43:178-88.
38. Aggett PJ, Harries JT, Harvey BA, Soothill JF. An inherited defect of neutrophil mobility in Shwachman syndrome. J Pediatr 1979;94:391-4.
39. Dror Y, Durie P, Ginzberg H, Herman R, Banerjee A, Champange M, Shannon K, Malkin D, Freedman MH. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol 2002;30:659-69.
40. Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005;45:892-901.
41. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003;33:97-101.
42. Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet 2004;114:345-8.
43. Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ. Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond syndrome. J Biol Chem 2005;280:19221-9.
44. Savchenko A, Krogan N, Cort JR, Evdokimova E, Lew JM, Yee AA, Sanchez-Pulido L, Andrade MA, Bochkarev A, Watson JD, Kennedy MA, Greenblatt J, Hughes T, Arrowsmith CH, Rommens JM, Edwards AM. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem 2005;280:19213-20.
45. Venkatasubramani N, Mayer AN. A zebrafish model for the Shwachman-Diamond syndrome (SDS). Pediatr Res 2008;63:348-52.
46. McKusick VA, Eldridge R, Hostetler JA, Ruangwit U, Egeland JA. Dwarfism in the Amish. II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 1965;116:285-326.
47. Mäkitie O, Sulisalo T, de la Chapelle A, Kaitila I. Cartilage-hair hypoplasia. J Med Genet 1995;32:39-43.
48. Lux SE, Johnston RB Jr, August CS, Say B, Penchaszadeh VB, Rosen FS, McKusick VA. Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. N Engl J Med 1970;282:231-6.
49. How cells read the genome from DNA to protein. In: Alberts B, Johnson A, Lewis J, Raff M, Roberts K, Walter P, editors. Molecular Biology of the Cell. 5th ed. New York: Garland Science, 2002: 329-410.
50. Martin AN, Li Y. RNase MRP RNA and human genetic diseases. Cell Res 2007;17:219-26.
51. Cai T, Aulds J, Gill T, Cerio M, Schmitt ME. The Saccharomyces cerevisiae RNase mitochondrial RNA processing is critical for cell cycle progression at the end of mitosis. Genetics 2002;161:1029-42.
52. Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet 2007;81:519-29.
53. Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O, Kaitila I. Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP. Eur J Hum Genet 2002;10:439-47.
54. Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F, Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A. Severely incapacitating mutations in patients with extreme short stature identify RNA processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet 2005;77:795-806.
55. Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van Den Oord JJ, Verhoef GE, Boogaerts MA, Fryns JP, You D, Rosen MK, Vandenberghe P. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001;27:313-7.
56. Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb Haemost 2001;86:233-45.
57. Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GC, Clayton-Smith J. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 2003;40:233-41.
58. Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. Am J Hum Genet 2002;71:407-14.
59. Schlame M, Ren M. Barth syndrome, a human disorder of cardiolipin metabolism. FEBS Lett 2006;580:5450-5.
60. Buckley RH. Seminal article with commentaries: agammaglobulinemia. Pediatrics 1998;102:PS213-PS215.
61. Balabanian K, Lagane B, Pablos JL, Laurent L, Planchenault T, Verola O, Lebbe C, Kerob D, Dupuy A, Hermine O, Nicolas JF, Latger-Cannard V, Bensoussan D, Bordigoni P, Baleux F, Le Deist F, Virelizier JL, Arenzana-Seisdedos F, Bachelerie F. WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. Blood 2005;105:2449-57.
62. Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, Bedell MA, Edelhoff S, Disteche CM, Simoneaux DK, Fanslow WC, Belmont J, Spriggs MK. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 1993;259:990-3.
63. Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Nat Acad Sci 2001;98:12614-9.
64. Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY. The gene for glycogen-storage disease type 1b maps to chromosome 11q23. Am J Hum Genet 1998;62:400-5.