Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome

European Journal of Haematology

Volumn 95, Issue 4, 2015, Pages 308-315

  Mercuri, Angela ^a   Cannata, Elisa ^a   Perbellini, Omar ^b   Cugno, Chiara ^a   Balter, Rita ^a   Zaccaron, Ada ^a   Tridello, Gloria ^a   Pizzolo, Giovanni ^b   De Bortoli, Massimiliano ^a   Krampera, Mauro ^b   Cipolli, Marco ^a   Cesaro, Simone ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

Flow cytometry; Immunophenotyping; Leukemia; Shwachman Bodian Diamond Syndrome (SBDS); Stem cells

Indexed keywords

CD34 ANTIGEN; LEUKOCYTE ANTIGEN;

ADOLESCENT; ADULT; ANTIGEN EXPRESSION; ARTICLE; BONE MARROW CELL; CELL LINEAGE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FLOW CYTOMETRY; GRANULOCYTE; HEMATOPOIESIS; HEMATOPOIETIC CELL; HUMAN; IMMUNOPHENOTYPING; MALE; MONOCYTE; MYELOID PROGENITOR CELL; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHWACHMAN SYNDROME; BONE MARROW; BONE MARROW DISEASES; CASE CONTROL STUDY; CELL DIFFERENTIATION; CYTOLOGY; EXOCRINE PANCREATIC INSUFFICIENCY; GENETICS; HEMATOPOIETIC STEM CELL; INFANT; KARYOTYPE; LIPOMATOSIS; METABOLISM; MUTATION; PATHOLOGY; YOUNG ADULT;

ADOLESCENT; ADULT; ANTIGENS, CD; BONE MARROW; BONE MARROW CELLS; BONE MARROW DISEASES; CASE-CONTROL STUDIES; CELL DIFFERENTIATION; CELL LINEAGE; CHILD; CHILD, PRESCHOOL; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; FLOW CYTOMETRY; HEMATOPOIESIS; HEMATOPOIETIC STEM CELLS; HUMANS; IMMUNOPHENOTYPING; INFANT; KARYOTYPE; LIPOMATOSIS; MALE; MUTATION; YOUNG ADULT;

EID: 84941260087     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/ejh.12490     Document Type: Article

References (25)

1. Shwachman H, Diamond LK, Oski FA, Khaw KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 1964;65:645-63.
2. Mäkitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet 2004;65:101-12.
3. Smith OP, Hann IM, Chessells JM, Reeves BR, Milla P. Haematological abnormalities in Shwachman-Diamond syndrome. Br J Haematol 1996;94:279-84.
4. Dror Y, Durie P, Ginzberg H, Herman R, Banerjee A, Champagne 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.
5. 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.
6. Zhang S, Shi M, Hui CC, Rommens JM. Loss of the mouse ortholog of the Shwachman Diamond Syndrome gene (Sbds) results in early embryonic lethality. Mol Cell Biol 2006;26:6656-63.
7. Finch AJ, Hilcenko C, Basse N, etal. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev 2011;25:917-29.
8. Austin KM, Gupta ML Jr, Coats SA, Tulpule A, Mostoslavsky G, Balazs AB, Mulligan RC, Daley G, Pellman D, Shimamura A. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest 2008;118:1511-8.
9. Rujkijyanont P, Watanabe K, Ambekar C, Wang H, Schimmer A, Beyene J, Dror Y. SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway. Haematologica 2008;93:363-71.
10. Watanabe K, Ambekar C, Wang H, Ciccolini A, Schimmer AD, Dror Y. SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane. Apoptosis 2009;14:77-89.
11. Orelio C, Kuijpers TW. Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics. Haematologica 2009;94:409-13.
12. Leung R, Cuddy K, Wang Y, Rommens J, Glogauer M. Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis. Blood 2011;117:2044-53.
13. Ginzberg H, Shin J, Ellis L, etal. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999;135:81-8.
14. Dror Y, Ginzberg H, Dalal I, Cherepanov V, Downey G, Durie P, Roifman CM, Freedman MH. Immune function in patients with Shwachman-Diamond syndrome. Br J Haematol 2001;114:712-7.
15. Dror Y, Freedman MH. Shwachman-Diamond syndrome: an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty microenvironment. Blood 1999;94:3048-54.
16. André V, Longoni D, Bresolin S, etal. Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects. Blood Cancer J 2012;2:e94 1-7.
17. Stetler-Stevenson M, Ahmad E, Barnett D, etal. (eds). Clinical Flow Cytometric Analysis of Neoplastic Hematolymphoid Cells; Approved Guideline-Second Edition. CLSI document H43-A2 (ISBN 1-56238-635-2). Wayne, PA: Clinical and Laboratory Standards Institute; 2007.
18. Chávez-González A, Dorantes-Acosta E, Moreno-Lorenzana D, Alvarado-Moreno A, Arriaga-Pizano L, Mayani H. Expression of CD90, CD96, CD117, and CD123 on DifferentHematopoietic Cell Populations from Pediatric Patients with AcuteMyeloid Leukemia. Arch Med Res 2014;45:343-50.
19. Fajtova M, Kovarikova A, Svec P, Kankuri E, Sedlak J. Immunophenotypic profile of nucleated erythroid progenitors during maturation in regenerating bone marrow. Leuk Lymphoma 2013;54:2523-30.
20. Wood B. Multicolor immunophenotyping: human immune system hematopoiesis. In: Darzynkiewicz Z, Roederer M, Tanke HJ, eds. Methods in Cell Biology, Vol. 75. Cytometry, 4th edn. San Diego, CA: Elsevier Academic Press; 2004: 559-76.
21. Blair A, Sutherland HJ. Primitive acute myeloid leukemia cells with long-term proliferative ability in vitro and in vivo lack surface expression of c-kit (CD117). Exp Hematol 2000;28:660-71.
22. Pierelli L, Scambia G, Bonanno G, etal. CD34+/CD105+ cells are enriched in primitive circulating progenitors residing in the G0 phase of the cell cycle and contain all bone marrow and cord blood CD34+/CD38low/- precursors. Br J Haematol 2000;108:610-20.
23. Heinrich MC, Dooley DC, Keeble WW. Transforming growth factor beta 1 inhibits expression of the gene products for steel factor and its receptor (c-kit). Blood 1995;85:1769-80.
24. Yamaguchi M, Fujimura K, Toga H, Khwaja A, Okamura N, Chopra R. Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors. Exp Hematol 2007;35:579-86.
25. Raaijmakers MH, Mukherjee S, Guo S, etal. Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia. Nature 2010;464:852-85.