Inherited bone marrow failure syndrome “Shwachman-Diamond Syndrome”

Ingram DA, Mead LE, Tanaka H, Meade V, Fenoglio A, Mortell K, et al. Identification of a novel hierarchy of endothelial progenitor cells using human peripheral and umbilical cord blood. Blood. 2004;104:2752-60.

Levesque JP, Winkler IG. Hierarchy of immature hematopoietic cells related to blood flow and niche. Curr Opin Hematol. 2011;18:220-5.

Majeti R, Park CY, Weissman IL. Identification of a hierarchy of multipotent hematopoietic progenitors in human cord blood. Cell Stem Cell. 2007;1:635-45.

Notta F, Zandi S, Takayama N, Dobson S, Gan OI, Wilson G, et al. Distinct routes of lineage development reshape the human blood hierarchy across ontogeny. Science. 2016;351:aab2116.

Shwachman H, Diamond LK, Oski FA, Khaw KT. The Syndrome of Pancreatic Insufficiency and Bone Marrow Dysfunction. J Pediatr. 1964;65:645-63.

Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33:97-101.

Aggett PJ, Cavanagh NP, Matthew DJ, Pincott JR, Sutcliffe J, Harries JT. Shwachman's syndrome. A review of 21 cases. Arch Dis Child. 1980;55:331-47.

Leung EW, Rujkijyanont P, Beyene J, Wei K, Abdelhaleem M, Freedman MH, et al. Shwachman-Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis. Br J Haematol. 2006;133:558-61.

Rujkijyanont P, Adams SL, Beyene J, Dror Y. Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing. Br J Haematol. 2009;145:806-15.

Rujkijyanont P, Beyene J, Wei K, Khan F, Dror Y. Leukaemia-related gene expression in bone marrow cells from patients with the preleukaemic disorder Shwachman-Diamond syndrome. Br J Haematol. 2007;137:537-44.

Rujkijyanont P, Watanabe K, Ambekar C, Wang H, Schimmer A, Beyene J, et al. SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway. Haematologica. 2008;93:363-71.

Dror Y, Freedman MH. Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. Blood. 1999;94:3048-54.

Dror Y, Durie P, Ginzberg H, Herman R, Banerjee A, Champagne M, et al. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol. 2002;30:659-69.

Ikuse T, Kudo T, Arai K, Fujii Y, Ida S, Ishii T, et al. Shwachman-Diamond syndrome: Nationwide survey and systematic review in Japan. Pediatr Int. 2018;60:719-26.

Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev. 2010;24:101-22.

Savilahti E, Rapola J. Frequent myocardial lesions in Shwachman's syndrome. Eight fatal cases among 16 Finnish patients. Acta Paediatr Scand. 1984;73:642-51.

Nelson AS, Myers KC. Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome. Hematol Oncol Clin North Am. 2018;32:687-700.

Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011;1242:40-55.

Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, et al. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr. 1999;135:81-8.

Alter BP, Giri N, Savage SA, Rosenberg PS. Telomere length in inherited bone marrow failure syndromes. Haematologica. 2015;100:49-54.

Dror Y, Ginzberg H, Dalal I, Cherepanov V, Downey G, Durie P, et al. Immune function in patients with Shwachman-Diamond syndrome. Br J Haematol. 2001;114:712-7.

Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018;103:30-9.

Bar C, Huber N, Beier F, Blasco MA. Therapeutic effect of androgen therapy in a mouse model of aplastic anemia produced by short telomeres. Haematologica. 2015;100:1267-74.

Calado RT, Yewdell WT, Wilkerson KL, Regal JA, Kajigaya S, Stratakis CA, et al. Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells. Blood. 2009;114:2236-43.

Yeap BB, Knuiman MW, Divitini ML, Hui J, Arscott GM, Handelsman DJ, et al. Epidemiological and Mendelian Randomization Studies of Dihydrotestosterone and Estradiol and Leukocyte Telomere Length in Men. J Clin Endocrinol Metab. 2016;101:1299-306.

Maggio M, Snyder PJ, Ceda GP, Milaneschi Y, Luci M, Cattabiani C, et al. Is the haematopoietic effect of testosterone mediated by erythropoietin? The results of a clinical trial in older men. Andrology. 2013;1:24-8.

Alter BP. Inherited bone marrow failure syndromes: considerations pre- and posttransplant. Hematology Am Soc Hematol Educ Program. 2017;2017:88-95.

Bonfim C. Special pre- and posttransplant considerations in inherited bone marrow failure and hematopoietic malignancy predisposition syndromes. Hematology Am Soc Hematol Educ Program. 2020;2020:107-14.