Bernard-Soulier syndrome
(Redirected from Bernard-Soulier Disease)
| Bernard-Soulier syndrome | |
 | |
|---|---|
| Bernard-Soulier syndrome. (Image courtesy of Melih Aktan M.D.) | |
| ICD-10 | D69.1 |
| ICD-9 | 287.1 |
| OMIM | 231200 |
| DiseasesDB | 1356 |
| eMedicine | ped/230 |
| MeSH | D001606 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [3]
Synonyms and keywords:BSS, giant platelet syndrome; hemorrhagic parous thrombocytic dystrophy; macrothrombocytopenia, familial Bernard-Soulier type; platelet glycoprotein Ib deficiency; Von Willebrand factor receptor deficiency.
Overview
Bernard-Soulier syndrome (BSS) belongs to one the rare hereditary platelet disorders. Bernard-Soulier syndrome characteristically is defined by the presence of giant platelets and thrombocytopenia. Bernard-Soulier syndrome (BSS) was first discovered in 1948. Bernard-Soulier syndrome may be classified into 4 subtypes. Bernard-Soulier syndrome is the result of the absence or decreased expression of the GPIb/IX/V complex on the surface of the platelets. Bernard-Soulier syndrome may be caused by abnormality in the genes for glycoprotein Ib/IX/V. The prevalence of Bernard-Soulier syndrome is approximately 1 per 100,000 individuals worldwide. The initial laboratory test to be done is blood cell counts and blood smears. There are no established risk factors for Bernard-Soulier syndrome. There is sufficient evidence to recommend routine screening for Bernard-Soulier syndrome with newer technologies in current clinical practice. If left untreated, patients with Bernard-Soulier syndrome may progress to develop bleeding manifestations like mucocutaneous bleeding, which can be prolonged and severe. Patients with Bernard-Soulier syndrome usually remarkable for dysfunctional platelets. There is no specific treatment for Bernard-Soulier syndrome, the mainstay of therapy is supportive care.
Historical Perspective
- Bernard-Soulier syndrome (BSS)/ Hemorrhage parous thrombocytic dystrophy/ Congenital hemorrhagic parous thrombocytic dystrophy is very rare disease and it occurs less than 1 case per million population. It as few as only ~100 cases have been reported in the literature.[1]
- Bernard-Soulier syndrome (BSS) was first discovered in 1948 by Jean Bernard and Jean-Pierre Soulier who were French hematologists.[2]
- Bernard-Soulier syndrome (BSS) is an autosomal recessive disease and is often associated with consanguinity.[3][4]
- Nurden and Caen reported in 1975 that platelets in patients with BSS had absence of major surface membrane glycoprotein complex.[5][6][7]
Classification
Bernard Soulier syndrome is classified into 4 subtypes:[8][9][10][11][12][13]
| Phenotype | Genomic Location | Inheritance | Gene | Locus
MIM number |
|---|---|---|---|---|
| Bernard-Soulier syndrome, type A1 | 17p13.2 | Autosomal Recessive | GP1BA | 606672 |
| Bernard-Soulier syndrome, type B | 22q11.21 | Autosomal Recessive | GP1BB | 138720 |
| Bernard-Soulier syndrome, type C | 3q21.3 | Autosomal Recessive | GP9 | 173515 |
| Giant platelet disorder, isolated | 22q11.21 | Autosomal Recessive | GP1BB | 138720 |
Pathophysiology
- It is thought that Bernard-Soulier syndrome is the result of the absence or decreased expression of the GPIb/IX/V complex on the surface of the platelets.[14][15][16][17][18][19][20]
- The GPIb/IX/V complex is the receptor for von Willebrand factor (vWF).
- The GPIb/IX/V complex plays a very important role in hemostasis and thrombosis.[21][22]
- The GPIb/IX/V complex and von Willebrand factor (vWF) ensure normal primary hemostasis by initiating platelet adhesion at sites of vascular injury.[23]
- The GPIb/IX/V complex binds to von Willebrand factor (vWF). This makes the initial contact, or adhesion, of platelets to exposed vascular endothelium.[24]
- The GPIb/IX/V complex along with von Willebrand factor (vWF) also attach to ruptured plaques in damaged blood vessels.[25]
- This attachment to ruptured plaque in damaged blood vessels is particularly seen at high shear flow rates (>800s-1).[26][27][28]
- In the formation of deep venous thrombosis GPIb/IX/V complex along with von Willebrand factor (vWF) plays a very critical role.[29][30][31][32][33][34]
- GPIb-IX-V complex is multisubunit in nature consists of 4 subunits.
- Each of the 4 multisubunit is a member of the leucine-rich motif, which contains ~24 amino acid and are involved in such processes such as cell signaling, cell adhesion, and development.[35][36]
- In addition to its important role in binding to von Willebrand factor (vWF), this N-terminal domain of GPIbα is a pivotal binding site for multiple ligands mediating platelet interactions with matrix which are involved in thrombosis and inflammation.
- On activated platelets and endothelial cells other adhesive ligand include P-selectin, αMβ2 /CD11b/CD18.[37][38][39]
- The GPIb-IX-V complex plays very crucial role in coagulation especially in intrinsic pathway which has tendency to bind the receptors for thrombin, Factors XI and XII (having the shortest half life of all clotting factors), kininogen and at last to high molecular weight (HMW).[40][41]
- With the help of actin filaments, Phe568 and Trp570, GPIb-IX-V plays a crucial role in maintaining the platelets shape.[42]
- GPIb-IX-V/VWF adhesion was enhanced by NADPH (Nicotinamide adenine dinucleotide phosphate) oxidase, (p47 subunit), PI 3-kinase, Hic-5, TRAF4 (TNF receptor-associated factor 4) Lyn, and Syk (spleen tyrosine kinase) proteins.[43][44][45][46][47][48][49]
Causes
- Bernard-Soulier syndrome may be caused by abnormalities in the genes for glycoprotein Ib/IX/V.[50][51][52][53][54]
- The genes for glycoprotein Ib/IX/V encode for proteins that are usually found on the surface of platelets, the glycoprotein Ib/IX/V receptor.[55]
- Platelets do not adhere to damaged endothelium due to lack of receptors.
- Mutations are found in BP1b-alpha (MW 135 kDa), Gp1b-beta (MW 26 kDa) and GP9 (MW 20 kDa) but not on GP5 (MW 82 kDa).[56][57]
Differentiating Bernard-Soulier syndrome from Other Disease
- Bernard-Soulier syndrome must be differentiated from[58][59] [60] [61][62][63][64]
- Wiskott-Aldrich syndrome (small platelets)
- X-linked thrombocytopenia (small platelets)
- May-Hegglin syndrome (giant platelets)
- Sebastian syndrome (giant platelets)
- Fechtner syndrome (giant platelets)
- Epstein syndrome (giant platelets)
- Idiopathic thrombocytopenic purpura (ITP)- most commonly misdiagnosed BSS as ITP
Epidemiology and Demographics
- The prevalence of Bernard-Soulier syndrome is approximately 1 per 100,000 individuals worldwide.[65][66][67][68]
- Bernard-Soulier syndrome is very rare; until now only ~100 cases have been reported.
- The severity of Bernard-Soulier syndrome increases with age.
- Bernard-Soulier syndrome more commonly affects infants than children and older people.
- Bernard-Soulier syndrome usually affects individuals from Japan, Europe and North America.
- Males and females are affected with equal frequency.
- The majority of Bernard-Soulier syndrome cases are reported in whites of European ancestry.
Risk Factors
- There are no established risk factors for Bernard-Soulier syndrome.
- Autosomal recessive genetic pattern is characteristic of Bernard-Soulier syndrome.
- Bernard-Soulier syndrome patients can be carriers when they receive one normal gene and one abnormal gene.
- Risk of Bernard-Soulier syndrome in a child is 25% to 50% with each pregnancy when two carrier parents both pass the abnormal gene.
Screening
- There is sufficient evidence to recommend routine screening for Bernard-Soulier syndrome with newer technologies in current clinical practice like the following.[69][70]
PFA-100(Platelet Function Analyzer)
- The most common screening test used for screening the patients with BSS [71][72][73][74]
- PFA-100 helps in differentiate between
- In other bleeding disorders like storage pool disorders PFA-100 is less sensitive.
Ultegra
- Ultegra an automated whole blood assay.
- Ultegra is very easy to use and can be done at the bedside.
- Ultegra helps in measuring platelet aggregation based on how strong activated platelets binding to fibrinogen.
Natural History, Complications, and Prognosis
- If left untreated, patients with Bernard-Soulier syndrome may progress to develop bleeding manifestations like mucocutaneous bleeding, which can be prolonged and severe.[75]
- Common complications of Bernard-Soulier syndrome include ante, intra, or postpartum hemorrhage in pregnant patients.[76]
- Prognosis is generally good in patients with Bernard-Soulier syndrome is but it is largely based on the severity of the condition.
Diagnosis
Diagnostic Study of Choice
- The diagnostic study of choice for Bernard-Soulier syndrome is ristocetin-induced agglutination.[77][78][79][80]
- Ristocetin is a drug that increases adherence between VWF and GP1b, and this aggregation is not seen in Bernard-Soulier syndrome.
History and Symptoms
The majority of patients with Bernard-Soulier syndrome show the following symptoms: Common symptoms of Bernard-Soulier syndrome patients include:[81][82][83][84][85][86]
- Nosebleeds (Epistaxis)
- Prolonged bleeding time (in some cases it is more than 20 minutes)
- Easy bruising
- Severe Menorrhagia in females
- Heavy bleeding following minor injury
- Prolonged bleeding after surgery
- Gingival bleeding
- Cutaneous bleeding
- Petechiae
Less common symptoms of Bernard-Soulier syndrome include:[87][88][89]
- Occasionally patients present with:
- Bastrointestinal bleeding
- Bleeding after childbirth
- Blood in stool
- Blood in vomiting
- Bleeding without trauma
Physical Examination
Patients with Bernard-Soulier syndrome usually have:
Laboratory Findings
- The initial laboratory test to be done is blood cell counts and blood smears.[90][91][92][93][94][95][76][96]
- The diagnosis of Bernard-Soulier syndrome is based on the presence of a large platelets (diameter 4–10 μ m) with a rounded shape.
- One of the diagnostic criteria of Bernard-Soulier syndrome is prolonged bleeding time.
- Moderately prolonged bleeding time: 5–10 min
- Severely prolonged bleeding time: >20 min
- On blood smear manual counting is necessary as the large platelets are often mistaken as lymphocytes.
- FVIII-von Willebrand factor levels are measured.
- Aggregation responses to thrombin is decreased.
- In Bernard-Soulier syndrome patients we can observe the defect in prothrombin consumption.
- Defect in prothrombin consumption is due to effective binding of FXI due to a lack of GPIb and decrease in GPIb-fibrin-dependent thrombin.[97]
- CD42 a-d a monoclonal antibody detected in flow cytometry also helps in the diagnosis and confirmation of the diagnosis in the patients with Bernard-Soulier syndrome.
- Genetic testing also aids in diagnosing patients with Bernard-Soulier syndrome.
- Immunoblotting also helps in diagnosing patients with Bernard-Soulier syndrome.
- Other new tests like platelet glycoprotein analysis by SDS-polyacrylamide gel separation are still being studied.
Electrocardiogram
- There are no ECG findings associated with Bernard-Soulier syndrome.
X-ray
- There are no x-ray findings associated with Bernard-Soulier syndrome.
Echocardiography or Ultrasound
- There are no ultrasound findings associated with the Bernard-Soulier syndrome.
CT scan
- There are no CT scan findings associated with Bernard-Soulier syndrome.
MRI
- There are no MRI findings associated with the Bernard-Soulier syndrome.
Treatment
Medical Therapy
- There is no specific treatment for Bernard-Soulier syndrome; the mainstay of therapy is supportive care.
- Pharmacologic medical therapy is recommended among patients with bleeding episodes:[98]
Antifibrinolytic agents
- ε-aminocaproic acid
- Tranexamic acid
- Both are very effective in controlling the mucosal bleeding
Platelet transfusion
- Platelet transfusion is the alternative when the patient is undergoing any surgical procedure.[99]
Desmopressin acetate (DDAVP)
- Desmopressin helps in shorten the bleeding time by increasing the release of vWF from endothelium.[100]
- Desmopressin also helps in minor bleeding episodes.
- In patients who are suffering with congenital platelet disorders recombinant activated factor VII have been shown useful.
Surgery
- Surgical intervention is not recommended for the management of Bernard-Soulier syndrome.
Primary Prevention
- There are no established measures for the primary prevention of the Bernard-Soulier syndrome.
Secondary Prevention
- There are no established measures for the secondary prevention of Bernard-Soulier syndrome.
References
- ↑ Lanza, François (2006). Orphanet Journal of Rare Diseases. 1 (1): 46. doi:10.1186/1750-1172-1-46. ISSN 1750-1172. Missing or empty
|title=(help) - ↑ Lanza F (November 2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis. 1: 46. doi:10.1186/1750-1172-1-46. PMC 1660532. PMID 17109744.
- ↑ de la Salle C, Lanza F, Cazenave JP (1995). "Biochemical and molecular basis of Bernard-Soulier syndrome: a review". Nouv Rev Fr Hematol. 37 (4): 215–22. PMID 8904201.
- ↑ de la Salle C, Baas MJ, Lanza F, Schwartz A, Hanau D, Chevalier J, Gachet C, Briquel ME, Cazenave JP (February 1995). "A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I)". Br. J. Haematol. 89 (2): 386–96. PMID 7873390.
- ↑ Nurden, A. T.; Phillips, D. R.; George, J. N. (2006). "Platelet membrane glycoproteins: historical perspectives". Journal of Thrombosis and Haemostasis. 4 (1): 3–9. doi:10.1111/j.1538-7836.2005.01549.x. ISSN 1538-7933.
- ↑ Beardsley DS (1990). "Platelet membrane glycoproteins: role in primary hemostasis and component antigens". Yale J Biol Med. 63 (5): 469–75. PMC 2589352. PMID 2293505.
- ↑ Clemetson KJ, McGregor JL, James E, Dechavanne M, Lüscher EF (August 1982). "Characterization of the platelet membrane glycoprotein abnormalities in Bernard-Soulier syndrome and comparison with normal by surface-labeling techniques and high-resolution two-dimensional gel electrophoresis". J. Clin. Invest. 70 (2): 304–11. PMC 371237. PMID 6284798.
- ↑ Nurden A, Nurden P (July 2011). "Advances in our understanding of the molecular basis of disorders of platelet function". J. Thromb. Haemost. 9 Suppl 1: 76–91. doi:10.1111/j.1538-7836.2011.04274.x. PMID 21781244.
- ↑ Ramasamy I (January 2004). "Inherited bleeding disorders: disorders of platelet adhesion and aggregation". Crit. Rev. Oncol. Hematol. 49 (1): 1–35. PMID 14734152.
- ↑ Nurden AT, Nurden P (December 2001). "Inherited defects of platelet function". Rev Clin Exp Hematol. 5 (4): 314–34, quiz following 431. PMID 11844132.
- ↑ Lanza, François (2006). Orphanet Journal of Rare Diseases. 1 (1): 46. doi:10.1186/1750-1172-1-46. ISSN 1750-1172. Missing or empty
|title=(help) - ↑ Yagi M, Edelhoff S, Disteche CM, Roth GJ (December 1995). "Human platelet glycoproteins V and IX: mapping of two leucine-rich glycoprotein genes to chromosome 3 and analysis of structures". Biochemistry. 34 (49): 16132–7. PMID 8519770.
- ↑ Yagi M, Edelhoff S, Disteche CM, Roth GJ (July 1994). "Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta". J. Biol. Chem. 269 (26): 17424–7. PMID 8021244.
- ↑ Lanza, François (2006). Orphanet Journal of Rare Diseases. 1 (1): 46. doi:10.1186/1750-1172-1-46. ISSN 1750-1172. Missing or empty
|title=(help) - ↑ Berndt, M. C.; Andrews, R. K. (2011). "Bernard-Soulier syndrome". Haematologica. 96 (3): 355–359. doi:10.3324/haematol.2010.039883. ISSN 0390-6078.
- ↑ Feghhi, Shirin; Munday, Adam D.; Tooley, Wes W.; Rajsekar, Shreya; Fura, Adriane M.; Kulman, John D.; López, Jose A.; Sniadecki, Nathan J. (2016). "Glycoprotein Ib-IX-V Complex Transmits Cytoskeletal Forces That Enhance Platelet Adhesion". Biophysical Journal. 111 (3): 601–608. doi:10.1016/j.bpj.2016.06.023. ISSN 0006-3495.
- ↑ Savage B, Almus-Jacobs F, Ruggeri ZM (September 1998). "Specific synergy of multiple substrate-receptor interactions in platelet thrombus formation under flow". Cell. 94 (5): 657–66. PMID 9741630.
- ↑ Clemetson KJ, Clemetson JM (September 1994). "Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease". Curr. Opin. Hematol. 1 (5): 388–93. PMID 9371310.
- ↑ Ando Y, Fusegawa H, Kawada T, Tanaka Y, Watanabe K, Kobayashi N (December 1989). "[Membrane glycoproteins of human platelets: structures, functions, and abnormalities in Glanzmann's thrombasthenia and Bernard-Soulier syndrome]". Rinsho Byori (in Japanese). 37 (12): 1344–52. PMID 2614964.
- ↑ Hayashi T, Suzuki K (2000). "Molecular pathogenesis of Bernard-Soulier syndrome". Semin. Thromb. Hemost. 26 (1): 53–9. PMID 10805283.
- ↑ Yan, Rong; Mo, Xi; Paredes, Angel M.; Dai, Kesheng; Lanza, Francois; Cruz, Miguel A.; Li, Renhao (2011). "Reconstitution of the Platelet Glycoprotein Ib-IX Complex in Phospholipid Bilayer Nanodiscs". Biochemistry. 50 (49): 10598–10606. doi:10.1021/bi201351d. ISSN 0006-2960.
- ↑ Baglia FA, Badellino KO, Li CQ, Lopez JA, Walsh PN (January 2002). "Factor XI binding to the platelet glycoprotein Ib-IX-V complex promotes factor XI activation by thrombin". J. Biol. Chem. 277 (3): 1662–8. doi:10.1074/jbc.M108319200. PMID 11696542.
- ↑ Clemetson KJ (March 2003). "Platelet receptors and their role in diseases". Clin. Chem. Lab. Med. 41 (3): 253–60. doi:10.1515/CCLM.2003.039. PMID 12705329.
- ↑ Feghhi S, Munday AD, Tooley WW, Rajsekar S, Fura AM, Kulman JD, López JA, Sniadecki NJ (August 2016). "Glycoprotein Ib-IX-V Complex Transmits Cytoskeletal Forces That Enhance Platelet Adhesion". Biophys. J. 111 (3): 601–608. doi:10.1016/j.bpj.2016.06.023. PMC 4982925. PMID 27508443.
- ↑ Romo GM, Dong JF, Schade AJ, Gardiner EE, Kansas GS, Li CQ, McIntire LV, Berndt MC, López JA (September 1999). "The glycoprotein Ib-IX-V complex is a platelet counterreceptor for P-selectin". J. Exp. Med. 190 (6): 803–14. PMC 2195629. PMID 10499919.
- ↑ Cranmer SL, Ulsemer P, Cooke BM, Salem HH, de la Salle C, Lanza F, Jackson SP (March 1999). "Glycoprotein (GP) Ib-IX-transfected cells roll on a von Willebrand factor matrix under flow. Importance of the GPib/actin-binding protein (ABP-280) interaction in maintaining adhesion under high shear". J. Biol. Chem. 274 (10): 6097–106. PMID 10037692.
- ↑ Wu YP, Vink T, Schiphorst M, van Zanten GH, IJsseldijk MJ, de Groot PG, Sixma JJ (June 2000). "Platelet thrombus formation on collagen at high shear rates is mediated by von Willebrand factor-glycoprotein Ib interaction and inhibited by von Willebrand factor-glycoprotein IIb/IIIa interaction". Arterioscler. Thromb. Vasc. Biol. 20 (6): 1661–7. PMID 10845886.
- ↑ Fredrickson BJ, Dong JF, McIntire LV, López JA (November 1998). "Shear-dependent rolling on von Willebrand factor of mammalian cells expressing the platelet glycoprotein Ib-IX-V complex". Blood. 92 (10): 3684–93. PMID 9808562.
- ↑ Brill A, Fuchs TA, Chauhan AK, Yang JJ, De Meyer SF, Köllnberger M, Wakefield TW, Lämmle B, Massberg S, Wagner DD (January 2011). "von Willebrand factor-mediated platelet adhesion is critical for deep vein thrombosis in mouse models". Blood. 117 (4): 1400–7. doi:10.1182/blood-2010-05-287623. PMC 3056477. PMID 20959603.
- ↑ Brill, A.; Fuchs, T. A.; Chauhan, A. K.; Yang, J. J.; De Meyer, S. F.; Kollnberger, M.; Wakefield, T. W.; Lammle, B.; Massberg, S.; Wagner, D. D. (2010). "von Willebrand factor-mediated platelet adhesion is critical for deep vein thrombosis in mouse models". Blood. 117 (4): 1400–1407. doi:10.1182/blood-2010-05-287623. ISSN 0006-4971.
- ↑ De Meyer, S. F.; Stoll, G.; Wagner, D. D.; Kleinschnitz, C. (2011). "von Willebrand Factor: An Emerging Target in Stroke Therapy". Stroke. 43 (2): 599–606. doi:10.1161/STROKEAHA.111.628867. ISSN 0039-2499.
- ↑ . doi:10.1161/CIRCRESAHA.117.311185/-/DC1. Missing or empty
|title=(help) - ↑ Biedermann, J. S.; Cannegieter, S. C.; Roest, M.; van der Meer, F. J. M.; Reitsma, P. H.; Kruip, M. J. H. A.; Lijfering, W. M. (2016). "Platelet reactivity in patients with venous thrombosis who use rosuvastatin: a randomized controlled clinical trial". Journal of Thrombosis and Haemostasis. 14 (7): 1404–1409. doi:10.1111/jth.13343. ISSN 1538-7933.
- ↑ Fuchs, T. A.; Brill, A.; Wagner, D. D. (2012). "Neutrophil Extracellular Trap (NET) Impact on Deep Vein Thrombosis". Arteriosclerosis, Thrombosis, and Vascular Biology. 32 (8): 1777–1783. doi:10.1161/ATVBAHA.111.242859. ISSN 1079-5642.
- ↑ Kobe B, Deisenhofer J (October 1994). "The leucine-rich repeat: a versatile binding motif". Trends Biochem. Sci. 19 (10): 415–21. PMID 7817399.
- ↑ Kobe B, Deisenhofer J (March 1995). "A structural basis of the interactions between leucine-rich repeats and protein ligands". Nature. 374 (6518): 183–6. doi:10.1038/374183a0. PMID 7877692.
- ↑ Romo, Gabriel M.; Dong, Jing-Fei; Schade, Alicia J.; Gardiner, Elizabeth E.; Kansas, Geoffrey S.; Li, Chester Q.; McIntire, Larry V.; Berndt, Michael C.; López, José A. (1999). "The Glycoprotein Ib-IX-V Complex Is a Platelet Counterreceptor for P-Selectin". The Journal of Experimental Medicine. 190 (6): 803–814. doi:10.1084/jem.190.6.803. ISSN 0022-1007.
- ↑ Romo GM, Dong JF, Schade AJ, Gardiner EE, Kansas GS, Li CQ, McIntire LV, Berndt MC, López JA (September 1999). "The glycoprotein Ib-IX-V complex is a platelet counterreceptor for P-selectin". J. Exp. Med. 190 (6): 803–14. PMC 2195629. PMID 10499919.
- ↑ Du, Xiaoping (2007). "Signaling and regulation of the platelet glycoprotein Ib–IX–V complex". Current Opinion in Hematology. 14 (3): 262–269. doi:10.1097/MOH.0b013e3280dce51a. ISSN 1065-6251.
- ↑ Li R, Emsley J (April 2013). "The organizing principle of the platelet glycoprotein Ib-IX-V complex". J. Thromb. Haemost. 11 (4): 605–14. doi:10.1111/jth.12144. PMC 3696474. PMID 23336709.
- ↑ Romo GM, Dong JF, Schade AJ, Gardiner EE, Kansas GS, Li CQ, McIntire LV, Berndt MC, López JA (September 1999). "The glycoprotein Ib-IX-V complex is a platelet counterreceptor for P-selectin". J. Exp. Med. 190 (6): 803–14. PMC 2195629. PMID 10499919.
- ↑ Arya M, Kolomeisky AB, Romo GM, Cruz MA, López JA, Anvari B (June 2005). "Dynamic force spectroscopy of glycoprotein Ib-IX and von Willebrand factor". Biophys. J. 88 (6): 4391–401. doi:10.1529/biophysj.104.046318. PMC 1305666. PMID 15764659.
- ↑ Shibanuma, Motoko; Mori, Kazunori; Nose, Kiyoshi (2012). "HIC-5: A Mobile Molecular Scaffold Regulating the Anchorage Dependence of Cell Growth". International Journal of Cell Biology. 2012: 1–8. doi:10.1155/2012/426138. ISSN 1687-8876.
- ↑ Feghhi S, Munday AD, Tooley WW, Rajsekar S, Fura AM, Kulman JD, López JA, Sniadecki NJ (August 2016). "Glycoprotein Ib-IX-V Complex Transmits Cytoskeletal Forces That Enhance Platelet Adhesion". Biophys. J. 111 (3): 601–608. doi:10.1016/j.bpj.2016.06.023. PMC 4982925. PMID 27508443.
- ↑ Arthur JF, Shen Y, Gardiner EE, Coleman L, Murphy D, Kenny D, Andrews RK, Berndt MC (January 2011). "TNF receptor-associated factor 4 (TRAF4) is a novel binding partner of glycoprotein Ib and glycoprotein VI in human platelets". J. Thromb. Haemost. 9 (1): 163–72. doi:10.1111/j.1538-7836.2010.04091.x. PMID 20946164.
- ↑ Carrim N, Walsh TG, Consonni A, Torti M, Berndt MC, Metharom P (2014). "Role of focal adhesion tyrosine kinases in GPVI-dependent platelet activation and reactive oxygen species formation". PLoS ONE. 9 (11): e113679. doi:10.1371/journal.pone.0113679. PMC 4240642. PMID 25415317.
- ↑ Arthur, J. F.; Shen, Y.; Gardiner, E. E.; Coleman, L.; Kenny, D.; Andrews, R. K.; Berndt, M. C. (2011). "TNF receptor-associated factor 4 (TRAF4) is a novel binding partner of glycoprotein Ib and glycoprotein VI in human platelets". Journal of Thrombosis and Haemostasis. 9 (1): 163–172. doi:10.1111/j.1538-7836.2010.04091.x. ISSN 1538-7933.
- ↑ Chapman NM, Houtman JC (August 2014). "Functions of the FAK family kinases in T cells: beyond actin cytoskeletal rearrangement". Immunol. Res. 59 (1–3): 23–34. doi:10.1007/s12026-014-8527-y. PMC 4125427. PMID 24816556.
- ↑ Berg NN, Ostergaard HL (August 1997). "T cell receptor engagement induces tyrosine phosphorylation of FAK and Pyk2 and their association with Lck". J. Immunol. 159 (4): 1753–7. PMID 9257837.
- ↑ Ruggeri ZM (July 2003). "Von Willebrand factor, platelets and endothelial cell interactions". J. Thromb. Haemost. 1 (7): 1335–42. PMID 12871266.
- ↑ Ulsemer P, Strassel C, Baas MJ, Salamero J, Chasserot-Golaz S, Cazenave JP, De La Salle C, Lanza F (September 2001). "Biosynthesis and intracellular post-translational processing of normal and mutant platelet glycoprotein GPIb-IX". Biochem. J. 358 (Pt 2): 295–303. PMC 1222061. PMID 11513727.
- ↑ Hickey MJ, Deaven LL, Roth GJ (November 1990). "Human platelet glycoprotein IX. Characterization of cDNA and localization of the gene to chromosome 3". FEBS Lett. 274 (1–2): 189–92. PMID 2253772.
- ↑ Lanza F, Morales M, de La Salle C, Cazenave JP, Clemetson KJ, Shimomura T, Phillips DR (October 1993). "Cloning and characterization of the gene encoding the human platelet glycoprotein V. A member of the leucine-rich glycoprotein family cleaved during thrombin-induced platelet activation". J. Biol. Chem. 268 (28): 20801–7. PMID 8407908.
- ↑ Lopez JA, Chung DW, Fujikawa K, Hagen FS, Davie EW, Roth GJ (April 1988). "The alpha and beta chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence". Proc. Natl. Acad. Sci. U.S.A. 85 (7): 2135–9. PMC 279943. PMID 3353370.
- ↑ Clemetson KJ (March 2003). "Platelet receptors and their role in diseases". Clin. Chem. Lab. Med. 41 (3): 253–60. doi:10.1515/CCLM.2003.039. PMID 12705329.
- ↑ Lopez JA, Chung DW, Fujikawa K, Hagen FS, Papayannopoulou T, Roth GJ (August 1987). "Cloning of the alpha chain of human platelet glycoprotein Ib: a transmembrane protein with homology to leucine-rich alpha 2-glycoprotein". Proc. Natl. Acad. Sci. U.S.A. 84 (16): 5615–9. PMC 298913. PMID 3303030.
- ↑ Wenger RH, Wicki AN, Kieffer N, Adolph S, Hameister H, Clemetson KJ (December 1989). "The 5' flanking region and chromosomal localization of the gene encoding human platelet membrane glycoprotein Ib alpha". Gene. 85 (2): 517–24. PMID 2628181.
- ↑ Balduini CL, Cattaneo M, Fabris F, Gresele P, Iolascon A, Pulcinelli FM, Savoia A (May 2003). "Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine". Haematologica. 88 (5): 582–92. PMID 12745278.
- ↑ Noris P, Pecci A, Di Bari F, Di Stazio MT, Di Pumpo M, Ceresa IF, Arezzi N, Ambaglio C, Savoia A, Balduini CL (October 2004). "Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients". Haematologica. 89 (10): 1219–25. PMID 15477207.
- ↑ Balduini CL, Iolascon A, Savoia A (August 2002). "Inherited thrombocytopenias: from genes to therapy". Haematologica. 87 (8): 860–80. PMID 12161364.
- ↑ Doubek M, Smejkal P, Dostálová V, Trnavská I, Buliková A, Brychtová Y, Mayer J (2003). "[Hereditary thrombocytopenia. Differential diagnosis of a case]". Cas. Lek. Cesk. (in Czech). 142 (11): 683–6. PMID 14689830.
- ↑ Balduini CL, Savoia A (December 2012). "Genetics of familial forms of thrombocytopenia". Hum. Genet. 131 (12): 1821–32. doi:10.1007/s00439-012-1215-x. PMID 22886561.
- ↑ Bellucci S (February 1997). "Megakaryocytes and inherited thrombocytopenias". Baillieres Clin. Haematol. 10 (1): 149–62. PMID 9154320.
- ↑ Balduini CL, Savoia A, Seri M (June 2013). "Inherited thrombocytopenias frequently diagnosed in adults". J. Thromb. Haemost. 11 (6): 1006–19. doi:10.1111/jth.12196. PMID 23510089.
- ↑ Lanza, François (2006). Orphanet Journal of Rare Diseases. 1 (1): 46. doi:10.1186/1750-1172-1-46. ISSN 1750-1172. Missing or empty
|title=(help) - ↑ Lanza, François (2006). Orphanet Journal of Rare Diseases. 1 (1): 46. doi:10.1186/1750-1172-1-46. ISSN 1750-1172. Missing or empty
|title=(help) - ↑ Lanza F (November 2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis. 1: 46. doi:10.1186/1750-1172-1-46. PMC 1660532. PMID 17109744.
- ↑ Sumitha E, Jayandharan GR, David S, Jacob RR, Sankari Devi G, Bargavi B, Shenbagapriya S, Nair SC, Abraham A, George B, Viswabandya A, Mathews V, Chandy M, Srivastava A (August 2011). "Molecular basis of Bernard-Soulier syndrome in 27 patients from India". J. Thromb. Haemost. 9 (8): 1590–8. doi:10.1111/j.1538-7836.2011.04417.x. PMID 21699652.
- ↑ Cattaneo M, Lecchi A, Agati B, Lombardi R, Zighetti ML (November 1999). "Evaluation of platelet function with the PFA-100 system in patients with congenital defects of platelet secretion". Thromb. Res. 96 (3): 213–7. PMID 10588464.
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- ↑ Favaloro EJ (March 2001). "Utility of the PFA-100 for assessing bleeding disorders and monitoring therapy: a review of analytical variables, benefits and limitations". Haemophilia. 7 (2): 170–9. PMID 11260277.
- ↑ Favaloro EJ (September 2002). "Clinical application of the PFA-100". Curr. Opin. Hematol. 9 (5): 407–15. PMID 12172459.
- ↑ Favaloro EJ (November 2008). "Clinical utility of the PFA-100". Semin. Thromb. Hemost. 34 (8): 709–33. doi:10.1055/s-0029-1145254. PMID 19214910.
- ↑ Marshall PW, Williams AJ, Dixon RM, Growcott JW, Warburton S, Armstrong J, Moores J (August 1997). "A comparison of the effects of aspirin on bleeding time measured using the Simplate method and closure time measured using the PFA-100, in healthy volunteers". Br J Clin Pharmacol. 44 (2): 151–5. PMC 2042813. PMID 9278200.
- ↑ Boeckelmann D, Hengartner H, Greinacher A, Nowak-Göttl U, Sachs UJ, Peter K, Sandrock-Lang K, Zieger B (September 2017). "Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype". Blood Cells Mol. Dis. 67: 69–74. doi:10.1016/j.bcmd.2017.01.010. PMID 28131619.
- ↑ 76.0 76.1 Greinacher A, Zellner A, Brangenberg R, Kiefel V, Mueller-Eckhardt C (June 1993). "[Bernard-Soulier syndrome. An important differential diagnosis in chronic thrombocytopenia with bleeding complications]". Monatsschr Kinderheilkd (in German). 141 (6): 483–6. PMID 8336744.
- ↑ Jenkins, C S; Phillips, D R; Clemetson, K J; Meyer, D; Larrieu, M J; Lüscher, E F (1976). "Platelet membrane glycoproteins implicated in ristocetin-induced aggregation. Studies of the proteins on platelets from patients with Bernard-Soulier syndrome and von Willebrand's disease". Journal of Clinical Investigation. 57 (1): 112–124. doi:10.1172/JCI108251. ISSN 0021-9738.
- ↑ Kelsey, H; Christopoulos, C; Gray, A A; Machin, S J (1994). "Acquired pseudo-pseudo Bernard-Soulier syndrome complicating Gaucher's disease". Journal of Clinical Pathology. 47 (2): 162–165. doi:10.1136/jcp.47.2.162. ISSN 0021-9746.
- ↑ Li C, Martin SE, Roth GJ (November 1995). "The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha". Blood. 86 (10): 3805–14. PMID 7579348.
- ↑ de la Salle C, Baas MJ, Lanza F, Schwartz A, Hanau D, Chevalier J, Gachet C, Briquel ME, Cazenave JP (February 1995). "A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I)". Br. J. Haematol. 89 (2): 386–96. PMID 7873390.
- ↑ Kirchmaier CM, Pillitteri D (2010). "Diagnosis and Management of Inherited Platelet Disorders". Transfus Med Hemother. 37 (5): 237–246. doi:10.1159/000320257. PMC 2980508. PMID 21113246.
- ↑ Diz-Kucukkaya, R. (2013). "Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome". Hematology. 2013 (1): 268–275. doi:10.1182/asheducation-2013.1.268. ISSN 1520-4391.
- ↑ Berndt, M. C.; Andrews, R. K. (2011). "Bernard-Soulier syndrome". Haematologica. 96 (3): 355–359. doi:10.3324/haematol.2010.039883. ISSN 0390-6078.
- ↑ Lanza, François (2006). Orphanet Journal of Rare Diseases. 1 (1): 46. doi:10.1186/1750-1172-1-46. ISSN 1750-1172. Missing or empty
|title=(help) - ↑ Bragadottir, Gudrun; Birgisdottir, Elisabet R.; Gudmundsdottir, Brynja R.; Hilmarsdottir, Bylgja; Vidarsson, Brynjar; Magnusson, Magnus K.; Larsen, Ole Halfdan; Sorensen, Benny; Ingerslev, Jorgen; Onundarson, Pall T. (2015). "Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome-A case control study". American Journal of Hematology. 90 (2): 149–155. doi:10.1002/ajh.23891. ISSN 0361-8609.
- ↑ Berndt MC, Fournier DJ, Castaldi PA (July 1989). "Bernard-Soulier syndrome". Baillieres Clin. Haematol. 2 (3): 585–607. PMID 2550101.
- ↑ Kirchmaier CM, Pillitteri D (2010). "Diagnosis and Management of Inherited Platelet Disorders". Transfus Med Hemother. 37 (5): 237–246. doi:10.1159/000320257. PMC 2980508. PMID 21113246.
- ↑ Berndt, M. C.; Andrews, R. K. (2011). "Bernard-Soulier syndrome". Haematologica. 96 (3): 355–359. doi:10.3324/haematol.2010.039883. ISSN 0390-6078.
- ↑ Bragadottir, Gudrun; Birgisdottir, Elisabet R.; Gudmundsdottir, Brynja R.; Hilmarsdottir, Bylgja; Vidarsson, Brynjar; Magnusson, Magnus K.; Larsen, Ole Halfdan; Sorensen, Benny; Ingerslev, Jorgen; Onundarson, Pall T. (2015). "Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome-A case control study". American Journal of Hematology. 90 (2): 149–155. doi:10.1002/ajh.23891. ISSN 0361-8609.
- ↑ Nichols WL, Kaese SE, Gastineau DA, Otteman LA, Bowie EJ (May 1989). "Bernard-Soulier syndrome: whole blood diagnostic assays of platelets". Mayo Clin. Proc. 64 (5): 522–30. PMID 2725065.
- ↑ Bunescu A, Lindahl T, Solum NO, Schulman S, Larsson A, Lundahl J, Egberg N (December 1994). "Partial expression of GP Ib measured by flow cytometry in two patients with Bernard-Soulier syndrome". Thromb. Res. 76 (5): 441–50. PMID 7900092.
- ↑ De Marco L, Fabris F, Casonato A, Fabris P, Dal Ben MG, Barbato A, Girolami A (1986). "Bernard-Soulier syndrome: diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients". Acta Haematol. 75 (4): 203–8. doi:10.1159/000206125. PMID 3096050.
- ↑ Poulsen LO, Johansen P, Jensen MK, Freund L (December 1989). "Differentiation between Bernard-Soulier syndrome and immune thrombocytopenia by immunostaining of peripheral blood". J. Clin. Pathol. 42 (12): 1296–7. PMC 502064. PMID 2693494.
- ↑ Berndt MC, Fournier DJ, Castaldi PA (July 1989). "Bernard-Soulier syndrome". Baillieres Clin. Haematol. 2 (3): 585–607. PMID 2550101.
- ↑ Kirchmaier CM, Pillitteri D (September 2010). "[Congenital thrombocytopathies]". Internist (Berl) (in German). 51 (9): 1109–14, 1116–7. doi:10.1007/s00108-010-2596-3. PMID 20725709.
- ↑ Nurden AT, Fiore M, Pillois X, Nurden P (March 2009). "Genetic testing in the diagnostic evaluation of inherited platelet disorders". Semin. Thromb. Hemost. 35 (2): 204–12. doi:10.1055/s-0029-1220328. PMID 19408193.
- ↑ Baglia FA, Badellino KO, Li CQ, Lopez JA, Walsh PN (January 2002). "Factor XI binding to the platelet glycoprotein Ib-IX-V complex promotes factor XI activation by thrombin". J. Biol. Chem. 277 (3): 1662–8. doi:10.1074/jbc.M108319200. PMID 11696542.
- ↑ Nurden P, Nurden AT (February 2008). "Congenital disorders associated with platelet dysfunctions". Thromb. Haemost. 99 (2): 253–63. doi:10.1160/TH07-09-0568. PMID 18278172.
- ↑ Fisher, Marlene; Chapman, Jeremy R.; Ting, Alan; Morris, Peter J. (1985). "Alloimmunisation to HLA Antigens following Transfusion
with Leucocyte-Poor and Purified Platelet Suspensions". Vox Sanguinis. 49 (5): 331–335. doi:10.1159/000466401. ISSN 0042-9007. line feed character in
|title=at position 55 (help) - ↑ Waldenström E, Holmberg L, Axelsson U, Winqvist I, Nilsson IM (March 1991). "Bernard-Soulier syndrome in two Swedish families: effect of DDAVP on bleeding time". Eur. J. Haematol. 46 (3): 182–7. PMID 1901273.