Page 36 - 2021_02-Haematologica-web
P. 36
P. Nurden et al.
Hermansky-Pudlak syndrome type II.
Blood. 2006;108(1):81-87.
73. Sharda A, Kim SH, Jasuja R, et al. Defective
PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome. Blood. 2015;125(10):1633-1642.
74. Kaplan J, De Domenico I, McVey Ward D. Chediak-Higashi syndrome. Curr Opin Hematol. 2008;15(1):22-29.
75. Dawood BB, Lowe GC, Lordkipanidze M, et al. Evaluation of participants with sus- pected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel. Blood. 2012;120(5):5041-5049.
76. Rabbolini D, Connor D, Morel-Kopp MC, et al. An integrated approach to inherited platelet disorders: results from a research collaborative, the Sydney Platelet Group. Pathology. 2020;52(2):243-255.
77. Leo VC, Morgan NV, Bem D, et al. Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders. J Thromb Haemost. 2015;13(4): 643-650.
78. Gorski MM, Lecchi A, Femia EA, et al. Complications of whole-exome sequencing for causal gene discovery in primary platelet secretion defects. Haematologica. 2019;104 (10):2084-2090.
79. Sandrock K, Nakamura L, Vraetz T, Beutel K, Ehl S, Zieger B. Platelet secretion defect in patients with familial hemophagocytic lym- phohistiocytosis type 5 (FLH5). Blood. 2010;116(26):6148-6150.
80. Ye S, Karim ZA, Al Hawas R, Pessin JE, Filipovich AH, Whiteheart SW. Syntaxin-11 but not syntaxin-2 or syntaxin-4, is required for platelet secretion. Blood. 2012;120(12): 2484-2492.
81. Nakamura L, Bertling A, Brodde MF, et al.
First characterization of platelet secretion defect in patients with familial hemophago- cytic lymphohistiocytosis type 3 (FHL-3). Blood. 2015;125(2):412-414.
82. Fager Ferrari MF, Leinoe E, Rossing M, et al. Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding. Platelets. 2017;29(1):56-64.
83. Rao AK. Inherited defects in platelet signal- ing mechanisms. J Thromb Haemost. 2003;1(4):671-681.
84. Adler DH, Cogan JD, Phillips JA III, et al. Inherited human cPLA2 deficiency is associ- ated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dys- function. J Clin Invest. 2008;118(6):2121- 2131.
85.Faioni EM, Razzari C, Zuleta A, et al. Bleeding diathesis and gastro-duodenal ulcers in inherited cytosolic phospholipase- A2 alpha deficiency. Thromb Haemost. 2014;112(6):1182-1189.
86. Reed K, Tucker DE, Aloulou A, et al. Functional characterization of mutations in inherited human cPLA2 deficiency. Biochemistry. 2011;50(10):1731-1738.
87. Rolf N, Knoefler R, Bugert P, et al. Clinical and laboratory phenotypes associated with the aspirin-like defect: a study in 17 unrelat- ed families. Br J Haematol. 2009;144(3):416- 424.
88. Bastida JM, Lozano ML, Benito R, et al. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. Haematologica. 2018;103(1):148-162.
89. Chan MV, Hayman MA, Sivapalaratnam S, et al. Identification of a homozygous reces- sive variant in PTGS1 resulting in a congen- ital aspirin-like defect in platelet function. Haematologica. 2020 April 16. [Epub ahead of print]
90.Geneviève D, Proulle V, Isidor B, et al. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet. 2008;40(3):284-286.
91. Seligsohn U. Treatment of inherited platelet disorders. Haemophilia. 2012;18 (Suppl 4:)161-165.
92. Civaschi E, Klersy C, Melazzini F, et al. Analysis of 65 pregnacies in 24 women with five different forms of platelet function dis- orders. Br J Haematol. 2015;170(4):559-563.
93. Lambert MP. Inherited platelet disorders: A modern approach to evaluation and treat- ment. Hematol Oncol Clin North Am. 2019;33(3):471-487.
94. Freson K, Turro E. High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders. J Thromb Haemost. 2017;15(7):1262-1272.
95. Thaventhiran JED, Lango Allen H, Burren OS et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020;583(7814);90-95.
96. Westbury SK, Turro E, Greene D, et al. Human Phenotype Ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleed- ing and platelet disorders. Genome Med. 2015;7(1):36.
97. Greinacher A, Pecci A, Kunishima S, et al. Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders. J Thromb Haemost. 2017;15(7):1511-1521.
98. Greinacher A, Eekels JJM. Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it easier. Blood. 2019;133(23):2478-2483.
99. Rodeghiero F, Pabinger I, Ragni M, et al. Fundamentals for a systematic approach to mild and inherited bleeding disorders: An EHA concensus report. Hemasphere. 2019;3 (5):e286.
350
haematologica | 2021; 106(2)