Page 2095 - Williams Hematology ( PDFDrive )

2070 Part XII: Hemostasis and Thrombosis Chapter 120: Hereditary Qualitative Platelet Disorders 2071

443. Rao AK: Hereditary disorders of platelet secretion and signal transduction, in Hemosta- 471. Freson K, Hoylaerts MF, Jaeken J, et al: Genetic variation of the extra-large stimulatory
sis and Thrombosis: Basic Principles and Clinical Practice, 5th ed, edited by RW Colman, G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for
VJ Marder, AW Clowes, JN George, SZ Goldhaber, pp 961–974. Lippincott Williams & bleeding. Thromb Haemost 86:733–738, 2001.
Wilkins, Philadelphia, 2006. 472. Freson K, Thys C, Wittevrongel C, et al: Pseudohypoparathyroidism type Ib with dis-
444. Rao AK, Jalagadugula G, Sun L: Inherited defects in platelet signaling mechanisms. turbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets. Hum Mol
Semin Thromb Hemost 30:525–535, 2004. Genet 11:2741–2750, 2002.
445. Cattaneo M: Inherited platelet-based bleeding disorders. J Thromb Haemost 1: 1628– 473. Patel YM, Patel K, Rahman S, et al: Evidence for a role for Galphai1 in mediating weak
1636, 2003. agonist-induced platelet aggregation in human platelets: Reduced Galphai1 expression
446. Rao AK: Inherited platelet function disorders: Overview and disorders of granules, and defective Gi signaling in the platelets of a patient with a chronic bleeding disorder.
secretion, and signal transduction. Hematol Oncol Clin North Am 27:585–611, 2013. Blood 101:4828–4835, 2003.
447. Hirata T, Ushikubi F, Kakizuka A, et al: Two thromboxane A2 receptor isoforms in 474. Dawood BB, Lowe GC, Lordkipanidze M, et al: Evaluation of participants with sus-
human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to pected heritable platelet function disorders including recommendation and validation
Arg60 to Leu mutation. J Clin Invest 97:949–956, 1996. of a streamlined agonist panel. Blood 120:5041–5049, 2012.
448. Hirata T, Kakizuka A, Ushikubi F, et al: Arg60 to Leu mutation of the human throm- 475. Canault M, Ghalloussi D, Grosdidier C, et al: Human CalDAG-GEFI gene
boxane A2 receptor in a dominantly inherited bleeding disorder. J Clin Invest 94: (RASGRP2) mutation affects platelet function and causes severe bleeding. J Exp Med
1662–1667, 1994. 211:1349–1362, 2014.
449. Higuchi W, Fuse I, Hattori A, Aizawa Y: Mutations of the platelet thromboxane A2 476. Lages B, Weiss HJ: Heterogeneous defects of platelet secretion and responses to weak
(TXA2) receptor in patients characterized by the absence of TXA2-induced platelet agonists in patients with bleeding disorders. Br J Haematol 68:53–62, 1988.
aggregation despite normal TXA2 binding activity. Thromb Haemost 82:1528–1531, 477. Koike K, Rao AK, Holmsen H, Mueller PS: Platelet secretion defect in patients with the
1999. attention deficit disorder and easy bruising. Blood 63:427–433, 1984.
450. Mumford AD, Dawood BB, Daly ME, et al: A novel thromboxane A2 receptor D304N 478. Yang X, Sun L, Gabbeta J, Rao AK: Platelet activation with combination of ionophore
variant that abrogates ligand binding in a patient with a bleeding diathesis. Blood A23187 and a direct protein kinase C activator induces normal secretion in patients
115:363–369, 2010. with impaired receptor mediated secretion and abnormal signal transduction. Thromb
451. Gachet C: P2 receptors, platelet function and pharmacological implications. Thromb Res 88:317–328, 1997.
Haemost 99:466–472, 2008. 479. Yang X, Sun L, Ghosh S, Rao AK: Human platelet signaling defect characterized by
452. Cattaneo M, Lecchi A, Randi AM, et al: Identification of a new congenital defect of impaired production of inositol-1,4,5-triphosphate and phosphatidic acid and dimin-
platelet function characterized by severe impairment of platelet responses to adenosine ished Pleckstrin phosphorylation: Evidence for defective phospholipase C activation.
diphosphate. Blood 80:2787–2796, 1992. Blood 88:1676–1683, 1996.
453. Nurden P, Savi P, Heilmann E, et al: An inherited bleeding disorder linked to a defective 480. Lee SB, Rao AK, Lee KH, et al: Decreased expression of phospholipase C-beta 2
interaction between ADP and its receptor on platelets. Its influence on glycoprotein isozyme in human platelets with impaired function. Blood 88:1684–1691, 1996.
IIb-IIIa complex function. J Clin Invest 95:1612–1622, 1995. 481. Sun L, Mao G, Rao AK: Association of CBFA2 mutation with decreased platelet PKC-
454. Shiraga M, Miyata S, Kato H, et al: Impaired platelet function in a patient with P2Y12 theta and impaired receptor-mediated activation of GPIIb-IIIa and pleckstrin phos-
deficiency caused by a mutation in the translation initiation codon. J Thromb Haemost phorylation: Proteins regulated by CBFA2 play a role in GPIIb-IIIa activation. Blood
3:2315–2323, 2005. 103:948–954, 2004.
455. Daly ME, Dawood BB, Lester WA, et al: Identification and characterization of a novel 482. Lages B, Weiss HJ: Impairment of phosphatidylinositol metabolism in a patient with a
P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the bleeding disorder associated with defects of initial platelet responses. Thromb Haemost
European MCMDM-1VWD study. Blood 113:4110–4113, 2009. 59:175–179, 1988.
456. Cattaneo M: The platelet P2Y12 receptor for adenosine diphosphate: Congenital and 483. Speiser-Ellerton S, Weiss HJ: Studies on platelet protein phosphorylation in patients
drug-induced defects. Blood 117: 2102–2012, 2011. with impaired responses to platelet agonists. J Lab Clin Med 115:104–111, 1990.
457. Cattaneo M, Zighetti ML, Lombardi R, et al: Molecular bases of defective signal trans- 484. Mao GF, Vaidyula VR, Kunapuli SP, Rao AK: Lineage-specific defect in gene expression
duction in the platelet P2Y12 receptor of a patient with congenital bleeding. Proc Natl in human platelet phospholipase C-beta2 deficiency. Blood 99:905–911, 2002.
Acad Sci U S A 100:1978–1983, 2003. 485. Holmsen H, Walsh PN, Koike K, et al: Familial bleeding disorder associated with deficien-
458. Cattaneo M, Lombardi R, Zighetti ML, et al: Deficiency of (33)P-2MeS-ADP binding cies in platelet signal processing and glycoproteins. Br J Haematol 67:335–344, 1987.
sites on platelets with secretion defect, normal granule stores and normal thromboxane 486. Cartwright J, Hampton KK, Macneil S, et al: A haemorrhagic platelet disorder associ-
A2 production. Thromb Haemost 77:986–990, 1997. ated with altered stimulus-response coupling and abnormal membrane phospholipid
459. Cattaneo M, Lecchi A, Lombardi R, et al: Platelets from a patient heterozygous for the composition. Br J Haematol 88:129–136, 1994.
defect of P2(CYC) receptors for ADP have a secretion defect despite normal thrombox- 487. Fuse I, Mito M, Hattori A, et al: Defective signal transduction induced by thromboxane
ane A(2) production and normal granule stores: Further evidence that some cases of A2 in a patient with a mild bleeding disorder: Impaired phospholipase C activation
platelet “primary secretion defect” are heterozygous for a defect of P2(CYC) receptors. despite normal phospholipase A2 activation. Blood 81:994–1000, 1993.
Arterioscler Thromb Vasc Biol 20:E101–E106, 2000. 488. Mitsui T: Defective signal transduction through the thromboxane A2 receptor in a
460. Hollopeter G, Jantzen HM, Vincent D, et al: Identification of the platelet ADP receptor patient with a mild bleeding disorder. Deficiency of the inositol 1,4,5-triphosphate
targeted by antithrombotic drugs. Nature 409:202–207, 2001. formation despite normal G-protein activation. Thromb Haemost 77:991–995, 1997.
461. Remijn JA, Ijsseldijk MJ, Strunk AL, et al: Novel molecular defect in the platelet ADP 489. Gabbeta J, Yang X, Sun L, et al: Abnormal inside-out signal transduction-dependent
receptor P2Y12 of a patient with haemorrhagic diathesis. Clin Chem Lab Med 45: activation of glycoprotein IIb-IIIa in a patient with impaired pleckstrin phosphoryla-
187–189, 2007. tion. Blood 87:1368–1376, 1996.
462. Cunningham MR, Nisar SP, Cooke AE, et al: Differential endosomal sorting of a novel 490. Song WJ, Sullivan MG, Legare RD, et al: Haploinsufficiency of CBFA2 causes famil-
P2Y12 purinoreceptor mutant. Traffic 14:585–598, 2013. ial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat
463. Oury C, Toth-Zsamboki E, Van Geet C, et al: A natural dominant negative P2X1 Genet 23:166–175, 1999.
receptor due to deletion of a single amino acid residue. J Biol Chem 275:22611–22614, 491. Sun L, Gorospe JR, Hoffman EP, Rao AK: Decreased platelet expression of myosin
2000. regulatory light chain polypeptide (MYL9) and other genes with platelet dysfunction
464. Scrutton MC, Clare KA, Hutton RA, Bruckdorfer KR: Depressed responsiveness to and CBFA2/RUNX1 mutation: Insights from platelet expression profiling. J Thromb
adrenaline in platelets from apparently normal human donors: A familial trait. Br J Haemost 5:146–154, 2007.
Haematol 49:303–314, 1981. 492. Rendu F, Breton-Gorius J, Trugnan G, et al: Studies on a new variant of the Hermansky-
465. Rao AK, Willis J, Kowalska MA, et al: Differential requirements for platelet aggregation Pudlak syndrome: Qualitative, ultrastructural, and functional abnormalities of the platelet-
and inhibition of adenylate cyclase by epinephrine. Studies of a familial platelet alpha dense bodies associated with a phospholipase A defect. Am J Hematol 4:387–399, 1978.
2-adrenergic receptor defect. Blood 71:494–501, 1988. 493. Adler DH, Cogan JD, Phillips JA, et al: Inherited human cPLA(2alpha) deficiency is
466. Tamponi G, Pannocchia A, Arduino C, et al: Congenital deficiency of alpha-2- associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and plate-
adrenoceptors on human platelets: Description of two cases. Thromb Haemost 58: let dysfunction. J Clin Invest 2008.
1012–1016, 1987. 494. Faioni EM, Razzari C, Zulueta A, et al: Bleeding diathesis and gastro-duodenal ulcers
467. Pelczar-Wissner CJ, McDonald EG, Sussman II: Absence of platelet activating factor in inherited cytosolic phospholipase-A2 alpha deficiency. Thromb Haemost 112:1182–
(PAF) mediated platelet aggregation: A new platelet defect. Am J Hematol 16:419–422, 1189, 2014.
1984. 495. Malmsten C, Hamberg M, Svensson J, Samuelsson B: Physiological role of an endoper-
468. Gabbeta J, Yang X, Kowalska MA, et al: Platelet signal transduction defect with oxide in human platelets: Hemostatic defect due to platelet cyclo-oxygenase deficiency.
Galpha subunit dysfunction and diminished Galphaq in a patient with abnormal plate- Proc Natl Acad Sci U S A 72:1446–1450, 1975.
let responses. Proc Natl Acad Sci U S A 94:8750–8755, 1997. 496. Lagarde M, Byron PA, Vargaftig BB, Dechavanne M: Impairment of platelet thrombox-
469. Rao AK, Koike K, Willis J, et al: Platelet secretion defect associated with impaired lib- ane A2 generation and of the platelet release reaction in two patients with congenital
eration of arachidonic acid and normal myosin light chain phosphorylation. Blood deficiency of platelet cyclo-oxygenase. Br J Haematol 38:251–266, 1978.
64:914–921, 1984. 497. Pareti FI, Mannucci PM, D’Angelo A, et al: Congenital deficiency of thromboxane and
470. Gabbeta J, Vaidyula VR, Dhanasekaran DN, Rao AK: Human platelet Gaq deficiency is prostacyclin. Lancet 1:898–901, 1980.
associated with decreased Gaq gene expression in platelets but not neutrophils. Thromb 498. Rak K, Boda Z: Haemostatic balance in congenital deficiency of platelet cyclo- oxygenase.
Haemost 87:129–133, 2002. Lancet 2:44, 1980.

Kaushansky_chapter 120_p2039-2072.indd 2070 9/21/15 2:22 PM