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Published in: Current Allergy and Asthma Reports 8/2014

01-08-2014 | ANAPHYLAXIS AND DRUG ALLERGY (DA KHAN AND M CASTELLS, SECTION EDITORS)

Anaphylaxis as a Clinical Manifestation of Clonal Mast Cell Disorders

Authors: A. Matito, I. Alvarez-Twose, J. M. Morgado, L. Sánchez-Muñoz, A. Orfao, L. Escribano

Published in: Current Allergy and Asthma Reports | Issue 8/2014

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Abstract

Clonal mast cell disorders comprise a heterogeneous group of disorders characterized by the presence of gain of function KIT mutations and a constitutively altered activation-associated mast cell immunophenotype frequently associated with clinical manifestations related to the release of mast cells mediators. These disorders do not always fulfil the World Health Organization (WHO)-proposed criteria for mastocytosis, particularly when low-sensitive diagnostic approaches are performed. Anaphylaxis is a frequent presentation of clonal mast cell disorders, particularly in mastocytosis patients without typical skin lesions. The presence of cardiovascular symptoms, e.g., hypotension, occurring after a hymenoptera sting or spontaneously in the absence of cutaneous manifestations such as urticaria is characteristic and differs from the presentation of anaphylaxis in the general population without mastocytosis.
Literature
1.
go back to reference Johansson S, Bieber T, Dahl R, Friedmann PS, Lanier BQ, Lockey RF, et al. Revised nomenclature for allergy for global use: report of the Nomenclature Review Committee of the World Allergy Organization, October 2003. J Allergy Clin Immunol. 2004;113:832–6.PubMed Johansson S, Bieber T, Dahl R, Friedmann PS, Lanier BQ, Lockey RF, et al. Revised nomenclature for allergy for global use: report of the Nomenclature Review Committee of the World Allergy Organization, October 2003. J Allergy Clin Immunol. 2004;113:832–6.PubMed
2.
go back to reference Sampson HA, Munoz-Furlong A, Campbell RL, Adkinson Jr NF, Bock SA, Branum A, et al. Second symposium on the definition and management of anaphylaxis: summary report Second National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network symposium. J Allergy Clin Immunol. 2006;117:391–7.PubMed Sampson HA, Munoz-Furlong A, Campbell RL, Adkinson Jr NF, Bock SA, Branum A, et al. Second symposium on the definition and management of anaphylaxis: summary report Second National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network symposium. J Allergy Clin Immunol. 2006;117:391–7.PubMed
3.
go back to reference Simons FE. World Allergy Organization: World Allergy Organization survey on global availability of essentials for the assessment and management of anaphylaxis by allergy-immunology specialists in health care settings. Ann Allergy Asthma Immunol. 2010;104:405–12.PubMed Simons FE. World Allergy Organization: World Allergy Organization survey on global availability of essentials for the assessment and management of anaphylaxis by allergy-immunology specialists in health care settings. Ann Allergy Asthma Immunol. 2010;104:405–12.PubMed
4.••
go back to reference Simons FE, Ardusso LR, Bilo MB, El-Gamal YM, Ledford DK, Ring J, et al. World Allergy Organization anaphylaxis guidelines: summary. J Allergy Clin Immunol. 2011;127:587–93. Summary of global guidelines for anaphylaxis that review risk factors, assessment and management of anaphylaxis. PubMed Simons FE, Ardusso LR, Bilo MB, El-Gamal YM, Ledford DK, Ring J, et al. World Allergy Organization anaphylaxis guidelines: summary. J Allergy Clin Immunol. 2011;127:587–93. Summary of global guidelines for anaphylaxis that review risk factors, assessment and management of anaphylaxis. PubMed
5.
go back to reference Lee JK, Vadas P. Anaphylaxis: mechanisms and management. Clin Exp Allergy. 2011;41:923–38.PubMed Lee JK, Vadas P. Anaphylaxis: mechanisms and management. Clin Exp Allergy. 2011;41:923–38.PubMed
6.
go back to reference Panesar SS, Javad S, de Silva D, Nwaru BI, Hickstein L, Muraro A, et al. The epidemiology of anaphylaxis in Europe: a systematic review. Allergy. 2013;68:353–61. Panesar SS, Javad S, de Silva D, Nwaru BI, Hickstein L, Muraro A, et al. The epidemiology of anaphylaxis in Europe: a systematic review. Allergy. 2013;68:353–61.
7.
go back to reference Lieberman P, Camargo Jr CA, Bohlke K, Jick H, Miller RL, Sheikh A, et al. Epidemiology of anaphylaxis: findings of the American College of Allergy, Asthma and Immunology Epidemiology of Anaphylaxis Working Group. Ann Allergy Asthma Immunol. 2006;97:596–602.PubMed Lieberman P, Camargo Jr CA, Bohlke K, Jick H, Miller RL, Sheikh A, et al. Epidemiology of anaphylaxis: findings of the American College of Allergy, Asthma and Immunology Epidemiology of Anaphylaxis Working Group. Ann Allergy Asthma Immunol. 2006;97:596–602.PubMed
8.
go back to reference Ben-Shoshan M, Clarke AE. Anaphylaxis: past, present and future. Allergy. 2011;6:1–14. Ben-Shoshan M, Clarke AE. Anaphylaxis: past, present and future. Allergy. 2011;6:1–14.
9.
go back to reference Ma L, Danoff TM, Borish L. Case fatality and population mortality associated with anaphylaxis in the United States. J Allergy Clin Immunol. 2014;133:1075–83.PubMed Ma L, Danoff TM, Borish L. Case fatality and population mortality associated with anaphylaxis in the United States. J Allergy Clin Immunol. 2014;133:1075–83.PubMed
10.
go back to reference Tejedor Alonso MA, Moro MM, Mugica Garcia MV, Esteban HJ, Rosado IA, Vila AC, et al. Incidence of anaphylaxis in the city of Alcorcon (Spain): a population-based study. Clin Exp Allergy. 2012;42:578–89.PubMed Tejedor Alonso MA, Moro MM, Mugica Garcia MV, Esteban HJ, Rosado IA, Vila AC, et al. Incidence of anaphylaxis in the city of Alcorcon (Spain): a population-based study. Clin Exp Allergy. 2012;42:578–89.PubMed
11.
go back to reference Gibbison B, Sheikh A, McShane P, Haddow C, Soar J. Anaphylaxis admissions to UK critical care units between 2005 and 2009. Anaesthesia. 2012;67:833–9.PubMed Gibbison B, Sheikh A, McShane P, Haddow C, Soar J. Anaphylaxis admissions to UK critical care units between 2005 and 2009. Anaesthesia. 2012;67:833–9.PubMed
12.
go back to reference Simons FE, Ardusso LR, Dimov V, Ebisawa M, El-Gamal YM, Lockey RF, et al. World Allergy Organization Anaphylaxis Guidelines: 2013 update of the evidence base. Int Arch Allergy Immunol. 2013;162:193–204.PubMed Simons FE, Ardusso LR, Dimov V, Ebisawa M, El-Gamal YM, Lockey RF, et al. World Allergy Organization Anaphylaxis Guidelines: 2013 update of the evidence base. Int Arch Allergy Immunol. 2013;162:193–204.PubMed
13.
go back to reference Bonadonna P, Perbellini O, Passalacqua G, Caruso B, Colarossi S, Dal FD, et al. Clonal mast cell disorders in patients with systemic reactions to Hymenoptera stings and increased serum tryptase levels. J Allergy Clin Immunol. 2009;123:680–6.PubMed Bonadonna P, Perbellini O, Passalacqua G, Caruso B, Colarossi S, Dal FD, et al. Clonal mast cell disorders in patients with systemic reactions to Hymenoptera stings and increased serum tryptase levels. J Allergy Clin Immunol. 2009;123:680–6.PubMed
14.
go back to reference Metcalfe DD, Schwartz LB. Assessing anaphylactic risk? Consider mast cell clonality. J Allergy Clin Immunol. 2009;123:687–8.PubMedCentralPubMed Metcalfe DD, Schwartz LB. Assessing anaphylactic risk? Consider mast cell clonality. J Allergy Clin Immunol. 2009;123:687–8.PubMedCentralPubMed
15.
go back to reference Gonzalez de Olano D, de la Hoz B, Nunez-Lopez R, Sanchez-Munoz L, Cuevas M, Dieguez C, et al. Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA). Clin Exp Allergy. 2007;37:1547–55.PubMed Gonzalez de Olano D, de la Hoz B, Nunez-Lopez R, Sanchez-Munoz L, Cuevas M, Dieguez C, et al. Prevalence of allergy and anaphylactic symptoms in 210 adult and pediatric patients with mastocytosis in Spain: a study of the Spanish network on mastocytosis (REMA). Clin Exp Allergy. 2007;37:1547–55.PubMed
16.
go back to reference Brockow K, Jofer C, Behrendt H, Ring J. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy. 2008;63:226–32.PubMed Brockow K, Jofer C, Behrendt H, Ring J. Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy. 2008;63:226–32.PubMed
17.
go back to reference Alvarez-Twose I, Bonadonna P, Matito A, Zanotti R, Gonzalez-de-Olano D, Sanchez-Munoz L, et al. Systemic mastocytosis as a risk factor for severe Hymenoptera sting-induced anaphylaxis. J Allergy Clin Immunol. 2013;131:614–5.PubMed Alvarez-Twose I, Bonadonna P, Matito A, Zanotti R, Gonzalez-de-Olano D, Sanchez-Munoz L, et al. Systemic mastocytosis as a risk factor for severe Hymenoptera sting-induced anaphylaxis. J Allergy Clin Immunol. 2013;131:614–5.PubMed
18.
go back to reference Cox L, Larenas-Linnemann D, Lockey RF, Passalacqua G. Speaking the same language: the World Allergy Organization Subcutaneous Immunotherapy Systemic Reaction Grading System. J Allergy Clin Immunol. 2010;125:569–74. 574. Cox L, Larenas-Linnemann D, Lockey RF, Passalacqua G. Speaking the same language: the World Allergy Organization Subcutaneous Immunotherapy Systemic Reaction Grading System. J Allergy Clin Immunol. 2010;125:569–74. 574.
19.
go back to reference Alvarez-Twose I, GonzalezdeOlano D, Sanchez-Munoz L, Matito A, Esteban-Lopez MI, et al. Clinical, biological and molecular characteristics of systemic mast cell disorders presenting with severe mediator-related symptoms. J Allergy Clin Immunol. 2010;125:1269–78.PubMed Alvarez-Twose I, GonzalezdeOlano D, Sanchez-Munoz L, Matito A, Esteban-Lopez MI, et al. Clinical, biological and molecular characteristics of systemic mast cell disorders presenting with severe mediator-related symptoms. J Allergy Clin Immunol. 2010;125:1269–78.PubMed
21.
go back to reference Lieberman P, Nicklas RA, Oppenheimer J, Kemp SF, Lang DM, Bernstein DI, et al. The diagnosis and management of anaphylaxis practice parameter: 2010 update. J Allergy Clin Immunol. 2010;126:477–80.PubMed Lieberman P, Nicklas RA, Oppenheimer J, Kemp SF, Lang DM, Bernstein DI, et al. The diagnosis and management of anaphylaxis practice parameter: 2010 update. J Allergy Clin Immunol. 2010;126:477–80.PubMed
22.
go back to reference Castells M, Irani AM, Schwartz LB. Evaluation of human peripheral blood leukocytes for mast cell tryptase. J Immunol. 1987;138:2184–9.PubMed Castells M, Irani AM, Schwartz LB. Evaluation of human peripheral blood leukocytes for mast cell tryptase. J Immunol. 1987;138:2184–9.PubMed
23.
go back to reference Pallaoro M, Fejzo MS, Shayesteh L, Blount JL, Caughey GH. Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3. J Biol Chem. 1999;274:3355–62.PubMed Pallaoro M, Fejzo MS, Shayesteh L, Blount JL, Caughey GH. Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3. J Biol Chem. 1999;274:3355–62.PubMed
24.
go back to reference Caughey GH, Raymond WW, Blount JL, Hau LWT, Pallaoro M, Wolters PJ, et al. Characterization of human gamma-tryptases, novel members of the chromosome 16p mast cell tryptase and prostasin gene families. J Immunol. 2000;164:6566–75.PubMed Caughey GH, Raymond WW, Blount JL, Hau LWT, Pallaoro M, Wolters PJ, et al. Characterization of human gamma-tryptases, novel members of the chromosome 16p mast cell tryptase and prostasin gene families. J Immunol. 2000;164:6566–75.PubMed
25.
go back to reference Schwartz LB, Sakai K, Bradford TR, Ren S, Zweiman B, Worobec AS, et al. The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis. J Clin Invest. 1995;96:2702–10.PubMedCentralPubMed Schwartz LB, Sakai K, Bradford TR, Ren S, Zweiman B, Worobec AS, et al. The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis. J Clin Invest. 1995;96:2702–10.PubMedCentralPubMed
26.
go back to reference Schwartz LB, Yunginger JW, Miller J, Bokhari R, Dull D. Time course of appearance and disappearance of human mast cell tryptase in the circulation after anaphylaxis. J Clin Invest. 1989;83:1551–5.PubMedCentralPubMed Schwartz LB, Yunginger JW, Miller J, Bokhari R, Dull D. Time course of appearance and disappearance of human mast cell tryptase in the circulation after anaphylaxis. J Clin Invest. 1989;83:1551–5.PubMedCentralPubMed
27.
go back to reference Schwartz LB, Metcalfe DD, Miller JS, Earl H, Sullivan T. Tryptase levels as an indicator of mast-cell activation in systemic anaphylaxis and mastocytosis. N Engl J Med. 1987;316:1622–6.PubMed Schwartz LB, Metcalfe DD, Miller JS, Earl H, Sullivan T. Tryptase levels as an indicator of mast-cell activation in systemic anaphylaxis and mastocytosis. N Engl J Med. 1987;316:1622–6.PubMed
28.
go back to reference Sperr WR, El-Samahi A, Kundi M, Girschikofsky M, Winkler S, Lutz D, et al. Elevated tryptase levels selectively cluster in myeloid neoplasms: a novel diagnostic approach and screen marker in clinical haematology. Eur J Clin Invest. 2009;39:914–23.PubMed Sperr WR, El-Samahi A, Kundi M, Girschikofsky M, Winkler S, Lutz D, et al. Elevated tryptase levels selectively cluster in myeloid neoplasms: a novel diagnostic approach and screen marker in clinical haematology. Eur J Clin Invest. 2009;39:914–23.PubMed
29.
go back to reference Klion AD, Noel P, Akin C, Law MA, Gilliland DG, Cools J, et al. Elevated serum tryptase levels identify a subset of patients with a myeloproliferative variant of idiopathic hypereosinophilic syndrome associated with tissue fibrosis, poor prognosis, and imatinib responsiveness. Blood. 2003;101:4660–6.PubMed Klion AD, Noel P, Akin C, Law MA, Gilliland DG, Cools J, et al. Elevated serum tryptase levels identify a subset of patients with a myeloproliferative variant of idiopathic hypereosinophilic syndrome associated with tissue fibrosis, poor prognosis, and imatinib responsiveness. Blood. 2003;101:4660–6.PubMed
30.
go back to reference Ferrer M, Nunez-Cordoba JM, Luquin E, Grattan CE, De la Borbolla JM, Sanz ML, et al. Serum total tryptase levels are increased in patients with active chronic urticaria. Clin Exp Allergy. 2010;40:1760–6.PubMed Ferrer M, Nunez-Cordoba JM, Luquin E, Grattan CE, De la Borbolla JM, Sanz ML, et al. Serum total tryptase levels are increased in patients with active chronic urticaria. Clin Exp Allergy. 2010;40:1760–6.PubMed
31.
go back to reference Simon MR, Jan M, Yee J, Nori US, Hu J, Akin C, et al. Tryptase is not cleared by the kidneys into the urine. Int Arch Allergy Immunol. 2009;152:28–31.PubMedCentralPubMed Simon MR, Jan M, Yee J, Nori US, Hu J, Akin C, et al. Tryptase is not cleared by the kidneys into the urine. Int Arch Allergy Immunol. 2009;152:28–31.PubMedCentralPubMed
32.
go back to reference Gonzalez-Quintela A, Vizcaino L, Gude F, Rey J, Meijide L, Fernandez-Merino C, et al. Factors influencing serum total tryptase concentrations in a general adult population. Clin Chem Lab Med. 2010;48:701–6.PubMed Gonzalez-Quintela A, Vizcaino L, Gude F, Rey J, Meijide L, Fernandez-Merino C, et al. Factors influencing serum total tryptase concentrations in a general adult population. Clin Chem Lab Med. 2010;48:701–6.PubMed
33.
go back to reference Van der Linden P-WG, Hack CE, Poortman J, Vivié-Kipp YC, Struyvenberg A, Van der Zwan JK. Insect-sting challenge in 138 patients: relation between clinical severity of anaphylaxis and mast cell activation. J Allergy Clin Immunol. 1992;90:110–8.PubMed Van der Linden P-WG, Hack CE, Poortman J, Vivié-Kipp YC, Struyvenberg A, Van der Zwan JK. Insect-sting challenge in 138 patients: relation between clinical severity of anaphylaxis and mast cell activation. J Allergy Clin Immunol. 1992;90:110–8.PubMed
34.
go back to reference Haeberli G, Brönnimann M, Hunziker T, Müller U. Elevated basal serum tryptase and hymenoptera venom allergy: relation to severity of sting reactions and to safety and efficacy of venom immunotherapy. Clin Exp Allergy. 2003;33:1216–20.PubMed Haeberli G, Brönnimann M, Hunziker T, Müller U. Elevated basal serum tryptase and hymenoptera venom allergy: relation to severity of sting reactions and to safety and efficacy of venom immunotherapy. Clin Exp Allergy. 2003;33:1216–20.PubMed
35.
go back to reference Simons FE, Frew AJ, Ansotegui IJ, Bochner BS, Golden DB, Finkelman FD, et al. Risk assessment in anaphylaxis: current and future approaches. J Allergy Clin Immunol. 2007;120:S2–S24.PubMed Simons FE, Frew AJ, Ansotegui IJ, Bochner BS, Golden DB, Finkelman FD, et al. Risk assessment in anaphylaxis: current and future approaches. J Allergy Clin Immunol. 2007;120:S2–S24.PubMed
36.
go back to reference Brandt EB, Strait RT, Hershko D, Wang Q, Muntel EE, Scribner TA, et al. Mast cells are required for experimental oral allergen-induced diarrhea. J Clin Invest. 2003;112:1666–77.PubMedCentralPubMed Brandt EB, Strait RT, Hershko D, Wang Q, Muntel EE, Scribner TA, et al. Mast cells are required for experimental oral allergen-induced diarrhea. J Clin Invest. 2003;112:1666–77.PubMedCentralPubMed
37.
go back to reference Schwartz LB, Irani AM, Roller K, Castells MC, Schechter NM. Quantitation of histamine, tryptase, and chymase in dispersed human T and TC mast cells. J Immunol. 1987;138:2611–5.PubMed Schwartz LB, Irani AM, Roller K, Castells MC, Schechter NM. Quantitation of histamine, tryptase, and chymase in dispersed human T and TC mast cells. J Immunol. 1987;138:2611–5.PubMed
38.
go back to reference Sala-Cunill A, Cardona V, Labrador-Horrillo M, Luengo O, Esteso O, Garriga T, et al. Usefulness and limitations of sequential serum tryptase for the diagnosis of anaphylaxis in 102 patients. Int Arch Allergy Immunol. 2013;160:192–9.PubMed Sala-Cunill A, Cardona V, Labrador-Horrillo M, Luengo O, Esteso O, Garriga T, et al. Usefulness and limitations of sequential serum tryptase for the diagnosis of anaphylaxis in 102 patients. Int Arch Allergy Immunol. 2013;160:192–9.PubMed
39.
go back to reference Berroa F, Lafuente A, Javaloyes G, Ferrer M, Moncada R, Goikoetxea M, et al. The usefulness of plasma histamine and different tryptase cut-off points in the diagnosis of peranesthetic hypersensitivity reactions. Clin Exp Allergy. 2014;44:270–7.PubMed Berroa F, Lafuente A, Javaloyes G, Ferrer M, Moncada R, Goikoetxea M, et al. The usefulness of plasma histamine and different tryptase cut-off points in the diagnosis of peranesthetic hypersensitivity reactions. Clin Exp Allergy. 2014;44:270–7.PubMed
40.
go back to reference van Doormaal JJ, van der Veer E, van Voorst Vader PC, Kluin PM, Mulder AB, van der Heide S, et al. Tryptase and histamine metabolites as diagnostic indicators of indolent systemic mastocytosis without skin lesions. Allergy. 2012;67:683–90.PubMed van Doormaal JJ, van der Veer E, van Voorst Vader PC, Kluin PM, Mulder AB, van der Heide S, et al. Tryptase and histamine metabolites as diagnostic indicators of indolent systemic mastocytosis without skin lesions. Allergy. 2012;67:683–90.PubMed
41.
go back to reference Vadas P, Perelman B, Liss G. Platelet-activating factor, histamine, and tryptase levels in human anaphylaxis. J Allergy Clin Immunol. 2013;131:144–9.PubMed Vadas P, Perelman B, Liss G. Platelet-activating factor, histamine, and tryptase levels in human anaphylaxis. J Allergy Clin Immunol. 2013;131:144–9.PubMed
42.
go back to reference Akin C, Metcalfe DD. Mastocytosis and mast cell activation syndromes presenting as anaphylaxis. In: Castells MC, editor. Anaphylaxis and hypersensitivity reactions. New York: Humana Press; 2011. p. 245–56. Akin C, Metcalfe DD. Mastocytosis and mast cell activation syndromes presenting as anaphylaxis. In: Castells MC, editor. Anaphylaxis and hypersensitivity reactions. New York: Humana Press; 2011. p. 245–56.
43.
go back to reference Picard M, Giavina-Bianchi P, Mezzano V, Castells M. Expanding spectrum of mast cell activation disorders: monoclonal and idiopathic mast cell activation syndromes. Clin Ther. 2013;35:548–62.PubMed Picard M, Giavina-Bianchi P, Mezzano V, Castells M. Expanding spectrum of mast cell activation disorders: monoclonal and idiopathic mast cell activation syndromes. Clin Ther. 2013;35:548–62.PubMed
44.
go back to reference Ono E, Taniguchi M, Mita H, Fukutomi Y, Higashi N, Miyazaki E, et al. Increased production of cysteinyl leukotrienes and prostaglandin D2 during human anaphylaxis. Clin Exp Allergy. 2009;39:72–80.PubMed Ono E, Taniguchi M, Mita H, Fukutomi Y, Higashi N, Miyazaki E, et al. Increased production of cysteinyl leukotrienes and prostaglandin D2 during human anaphylaxis. Clin Exp Allergy. 2009;39:72–80.PubMed
45.
go back to reference Yang K, Guo XJ, Yan XB, Gao CR. Changes of prostaglandin D2, carboxypeptidase A3 and platelet activating factor in guinea pig in anaphylactic shock. Fa Yi Xue Za Zhi. 2012;28:175–8.PubMed Yang K, Guo XJ, Yan XB, Gao CR. Changes of prostaglandin D2, carboxypeptidase A3 and platelet activating factor in guinea pig in anaphylactic shock. Fa Yi Xue Za Zhi. 2012;28:175–8.PubMed
46.
go back to reference Raithel M, Zopf Y, Kimpel S, Naegel A, Molderings GJ, Buchwald F, et al. The measurement of leukotrienes in urine as diagnostic option in systemic mastocytosis. J Physiol Pharmacol. 2011;62:469–72.PubMed Raithel M, Zopf Y, Kimpel S, Naegel A, Molderings GJ, Buchwald F, et al. The measurement of leukotrienes in urine as diagnostic option in systemic mastocytosis. J Physiol Pharmacol. 2011;62:469–72.PubMed
47.
go back to reference Butterfield JH. Increased leukotriene E4 excretion in systemic mastocytosis. Prostaglandins Other Lipid Mediat. 2010;92:73–6.PubMed Butterfield JH. Increased leukotriene E4 excretion in systemic mastocytosis. Prostaglandins Other Lipid Mediat. 2010;92:73–6.PubMed
48.
go back to reference Teodosio C, Garcia-Montero AC, Jara-Acevedo M, Sanchez-Munoz L, Pedreira CE, Alvarez-Twose I, et al. Gene expression profile of highly purified bone marrow mast cells in systemic mastocytosis. J Allergy Clin Immunol. 2013;131:1213–24.PubMed Teodosio C, Garcia-Montero AC, Jara-Acevedo M, Sanchez-Munoz L, Pedreira CE, Alvarez-Twose I, et al. Gene expression profile of highly purified bone marrow mast cells in systemic mastocytosis. J Allergy Clin Immunol. 2013;131:1213–24.PubMed
49.
go back to reference Fukuoka Y, Xia HZ, Sanchez-Munoz LB, Dellinger AL, Escribano L, Schwartz LB. Generation of anaphylatoxins by human {beta}-tryptase from C3, C4, and C5. J Immunol. 2008;180:6307–16.PubMedCentralPubMed Fukuoka Y, Xia HZ, Sanchez-Munoz LB, Dellinger AL, Escribano L, Schwartz LB. Generation of anaphylatoxins by human {beta}-tryptase from C3, C4, and C5. J Immunol. 2008;180:6307–16.PubMedCentralPubMed
50.
go back to reference Galli SJ, Dvorak AM, Dvorak HF. Basophils and mast cells: morphologic insights into their biology, secretory patterns, and function. Prog Allergy. 1984;34:1–141.PubMed Galli SJ, Dvorak AM, Dvorak HF. Basophils and mast cells: morphologic insights into their biology, secretory patterns, and function. Prog Allergy. 1984;34:1–141.PubMed
51.
go back to reference Metzger H. The high affinity receptor for IgE on mast cells. Clin Exp Allergy. 1991;21:269–79.PubMed Metzger H. The high affinity receptor for IgE on mast cells. Clin Exp Allergy. 1991;21:269–79.PubMed
52.
go back to reference Nuñez R, Escribano L, Schernthaner G, Prados A, Rodriguez-Gonzalez R, Diaz-Agustin B, et al. Overexpression of complement receptors and related antigens on the surface of bone marrow mast cells in patients with systemic mastocytosis. Br J Haematol. 2002;120:257–65. Nuñez R, Escribano L, Schernthaner G, Prados A, Rodriguez-Gonzalez R, Diaz-Agustin B, et al. Overexpression of complement receptors and related antigens on the surface of bone marrow mast cells in patients with systemic mastocytosis. Br J Haematol. 2002;120:257–65.
53.
go back to reference Valent P, Bettelheim P. Cell surface structures on human basophils and mast cells: biochemical and functional characterization. Adv Immunol. 1992;52:333–423.PubMed Valent P, Bettelheim P. Cell surface structures on human basophils and mast cells: biochemical and functional characterization. Adv Immunol. 1992;52:333–423.PubMed
54.
go back to reference Katz HR, Raizman MB, Gartner CS, Scott HC, Benson AC, Austen KF. Secretory granule mediator release and generation of oxidative metabolites of arachidonic acid via Fc-IgG receptor bridging in mouse mast cells. J Immunol. 1991;148:868–71. Katz HR, Raizman MB, Gartner CS, Scott HC, Benson AC, Austen KF. Secretory granule mediator release and generation of oxidative metabolites of arachidonic acid via Fc-IgG receptor bridging in mouse mast cells. J Immunol. 1991;148:868–71.
55.
go back to reference Lobell RB, Arm JP, Raizman MB, Austen KF, Katz HR. Intracellular degradation of Fc gamma RIII in mouse bone marrow culture-derived progenitor mast cells prevents its surface expression and associated function. J Biol Chem. 1993;268:1207–12.PubMed Lobell RB, Arm JP, Raizman MB, Austen KF, Katz HR. Intracellular degradation of Fc gamma RIII in mouse bone marrow culture-derived progenitor mast cells prevents its surface expression and associated function. J Biol Chem. 1993;268:1207–12.PubMed
56.
go back to reference Lobell RB, Austen KF, Katz HR. FcgammaR-mediated endocytosis and expression of cell surface FcgammaRIIb1 and FcgammaRIIb2 by mouse bone marrow culture- derived progenitor mast cells. J Immunol. 1994;152:811–8.PubMed Lobell RB, Austen KF, Katz HR. FcgammaR-mediated endocytosis and expression of cell surface FcgammaRIIb1 and FcgammaRIIb2 by mouse bone marrow culture- derived progenitor mast cells. J Immunol. 1994;152:811–8.PubMed
57.
go back to reference Woolhiser MR, Brockow K, Metcalfe DD. Activation of human mast cells by aggregated IgG through FcgammaRI: additive effects of C3a. Clin Immunol. 2004;110:172–80.PubMed Woolhiser MR, Brockow K, Metcalfe DD. Activation of human mast cells by aggregated IgG through FcgammaRI: additive effects of C3a. Clin Immunol. 2004;110:172–80.PubMed
58.
go back to reference Malaviya R, Gao ZM, Thankavel K, Van der Merwe PA, Abraham SN. The mast cell tumor necrosis factor α response to FimH-expressing Escherichia coli is mediated by the glycosylphosphatidylinositol-anchored molecule CD48. Proc Natl Acad Sci U S A. 1999;96:8110–5.PubMedCentralPubMed Malaviya R, Gao ZM, Thankavel K, Van der Merwe PA, Abraham SN. The mast cell tumor necrosis factor α response to FimH-expressing Escherichia coli is mediated by the glycosylphosphatidylinositol-anchored molecule CD48. Proc Natl Acad Sci U S A. 1999;96:8110–5.PubMedCentralPubMed
59.
go back to reference Supajatura V, Ushio H, Nakao A, Okumura K, Ra C, Ogawa H. Protective roles of mast cells against enterobacterial infection are mediated by Toll-like receptor 4. J Immunol. 2001;167:2250–6.PubMed Supajatura V, Ushio H, Nakao A, Okumura K, Ra C, Ogawa H. Protective roles of mast cells against enterobacterial infection are mediated by Toll-like receptor 4. J Immunol. 2001;167:2250–6.PubMed
60.
go back to reference Gommerman JL, Oh DY, Zhou XN, Tedder TF, Maurer M, Galli SJ, et al. A role for CD21/CD35 and CD19 in responses to acute septic peritonitis: a potential mechanism for mast cell activation. J Immunol. 2000;165:6915–21.PubMed Gommerman JL, Oh DY, Zhou XN, Tedder TF, Maurer M, Galli SJ, et al. A role for CD21/CD35 and CD19 in responses to acute septic peritonitis: a potential mechanism for mast cell activation. J Immunol. 2000;165:6915–21.PubMed
61.
go back to reference Varadaradjalou S, Féger F, Thieblemont N, Ben Hamouda N, Pleau JM, Dy M, et al. Toll-like receptor 2 (TLR2) and TLR4 differentially activate human mast cells. Eur J Immunol. 2003;33:899–906.PubMed Varadaradjalou S, Féger F, Thieblemont N, Ben Hamouda N, Pleau JM, Dy M, et al. Toll-like receptor 2 (TLR2) and TLR4 differentially activate human mast cells. Eur J Immunol. 2003;33:899–906.PubMed
62.
go back to reference Boyce JA. Mast cells: beyond IgE. J Allergy Clin Immunol. 2003;111:24–33.PubMed Boyce JA. Mast cells: beyond IgE. J Allergy Clin Immunol. 2003;111:24–33.PubMed
63.
go back to reference Garcia-Montero AC, Jara-Acevedo M, Teodosio C, Sanchez ML, Nunez R, Prados A, et al. KIT mutation in mast cells and other bone marrow haematopoietic cell lineages in systemic mast cell disorders. A prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 2006;108:2366–72.PubMed Garcia-Montero AC, Jara-Acevedo M, Teodosio C, Sanchez ML, Nunez R, Prados A, et al. KIT mutation in mast cells and other bone marrow haematopoietic cell lineages in systemic mast cell disorders. A prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 2006;108:2366–72.PubMed
64.
go back to reference Orfao A, Garcia-Montero AC, Sanchez L, Escribano L. Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol. 2007;138:12–30.PubMed Orfao A, Garcia-Montero AC, Sanchez L, Escribano L. Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol. 2007;138:12–30.PubMed
65.
go back to reference Longley BJ, Reguera MJ, Ma Y. Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy. Leuk Res. 2001;25:571–6.PubMed Longley BJ, Reguera MJ, Ma Y. Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy. Leuk Res. 2001;25:571–6.PubMed
66.
go back to reference Afrin LB. Presentation, diagnosis and mangement of mast cell activation syndrome. In: Murray DB, editor. Mast cells: phenotypic features, biological functions and role in immunity. Hauppauge: Nova; 2013. p. 155–231. Afrin LB. Presentation, diagnosis and mangement of mast cell activation syndrome. In: Murray DB, editor. Mast cells: phenotypic features, biological functions and role in immunity. Hauppauge: Nova; 2013. p. 155–231.
67.
go back to reference Molderings GJ, Kolck UW, Scheurlen C, Bruss M, Homann J, von Kügelgen I. Multiple novel alterations in Kit tyrosine kinase in patients with gastrointestinally pronounced systemic mast cell activation disorder. Scand J Gastroenterol. 2007;42:1045–53.PubMed Molderings GJ, Kolck UW, Scheurlen C, Bruss M, Homann J, von Kügelgen I. Multiple novel alterations in Kit tyrosine kinase in patients with gastrointestinally pronounced systemic mast cell activation disorder. Scand J Gastroenterol. 2007;42:1045–53.PubMed
68.
go back to reference Molderings GJ, Meis K, Kolck UW, Homann J, Frieling T. Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects. Immunogenetics. 2010;62:721–7.PubMed Molderings GJ, Meis K, Kolck UW, Homann J, Frieling T. Comparative analysis of mutation of tyrosine kinase kit in mast cells from patients with systemic mast cell activation syndrome and healthy subjects. Immunogenetics. 2010;62:721–7.PubMed
69.
go back to reference Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, Nothen MM. Familial occurrence of systemic mast cell activation disease. PLoS ONE. 2013;8:e76241.PubMedCentralPubMed Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, Nothen MM. Familial occurrence of systemic mast cell activation disease. PLoS ONE. 2013;8:e76241.PubMedCentralPubMed
70.
go back to reference Klampfl T, Harutyunyan A, Berg T, Gisslinger B, Schalling M, Bagienski K, et al. Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression. Blood. 2011;118:167–76.PubMed Klampfl T, Harutyunyan A, Berg T, Gisslinger B, Schalling M, Bagienski K, et al. Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression. Blood. 2011;118:167–76.PubMed
71.
go back to reference Tefferi A, Vainchenker W. Myeloproliferative neoplasms: molecular pathophysiology, essential clinical understanding, and treatment strategies. J Clin Oncol. 2011;29:573–82.PubMed Tefferi A, Vainchenker W. Myeloproliferative neoplasms: molecular pathophysiology, essential clinical understanding, and treatment strategies. J Clin Oncol. 2011;29:573–82.PubMed
72.
go back to reference Valent P, Akin C, Escribano L, Fodinger M, Hartmann K, Brockow K, et al. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest. 2007;37:435–53.PubMed Valent P, Akin C, Escribano L, Fodinger M, Hartmann K, Brockow K, et al. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest. 2007;37:435–53.PubMed
73.
go back to reference Horny HP, Metcalfe DD, Bennet JM, Bain BJ, Akin C, Escribano L, et al. Mastocytosis. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, editors. WHO classification of tumours of haematopoietic and lymphoid tissues. IARC: Lyon; 2008. p. 54–63. Horny HP, Metcalfe DD, Bennet JM, Bain BJ, Akin C, Escribano L, et al. Mastocytosis. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, editors. WHO classification of tumours of haematopoietic and lymphoid tissues. IARC: Lyon; 2008. p. 54–63.
74.
go back to reference Akin C, Escribano L, Núñez R, García-Montero A, Angulo M, Orfao A, et al. Well-differentiated systemic mastocytosis: a new disease variant with mature mast cell phenotype and lack of codon 816 c-kit mutations. J Allergy Clin Immunol. 2004;113:S327. Akin C, Escribano L, Núñez R, García-Montero A, Angulo M, Orfao A, et al. Well-differentiated systemic mastocytosis: a new disease variant with mature mast cell phenotype and lack of codon 816 c-kit mutations. J Allergy Clin Immunol. 2004;113:S327.
75.
go back to reference Akin C, Fumo G, Yavuz AS, Lipsky PE, Neckers L, Metcalfe DD. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood. 2004;103:3222–5.PubMed Akin C, Fumo G, Yavuz AS, Lipsky PE, Neckers L, Metcalfe DD. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood. 2004;103:3222–5.PubMed
76.
go back to reference Teodosio C, Garcia-Montero AC, Jara-Acevedo M, Sanchez-Munoz L, Alvarez-Twose I, Nunez R, et al. Mast cells from different molecular and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes. J Allergy Clin Immunol. 2010;125:719–26.PubMed Teodosio C, Garcia-Montero AC, Jara-Acevedo M, Sanchez-Munoz L, Alvarez-Twose I, Nunez R, et al. Mast cells from different molecular and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes. J Allergy Clin Immunol. 2010;125:719–26.PubMed
77.
go back to reference Metcalfe DD. Clinical advances in mastocytosis: an interdisciplinary roundtable discussion. J Invest Dermatol. 1991;96:1S–65S. Metcalfe DD. Clinical advances in mastocytosis: an interdisciplinary roundtable discussion. J Invest Dermatol. 1991;96:1S–65S.
78.
go back to reference Florian S, Krauth MT, Simonitsch-Klupp I, Sperr WR, Fritsche-Polanz R, Sonneck K, et al. Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes. Int Arch Allergy Immunol. 2005;136:273–80.PubMed Florian S, Krauth MT, Simonitsch-Klupp I, Sperr WR, Fritsche-Polanz R, Sonneck K, et al. Indolent systemic mastocytosis with elevated serum tryptase, absence of skin lesions, and recurrent severe anaphylactoid episodes. Int Arch Allergy Immunol. 2005;136:273–80.PubMed
79.
go back to reference Sperr WR, Jordan JH, Baghestanian M, Kiener HP, Samorapoompichit P, Semper H, et al. Expression of mast cell tryptase by myeloblasts in a group of patients with acute myeloid leukemia. Blood. 2001;98:2200–9.PubMed Sperr WR, Jordan JH, Baghestanian M, Kiener HP, Samorapoompichit P, Semper H, et al. Expression of mast cell tryptase by myeloblasts in a group of patients with acute myeloid leukemia. Blood. 2001;98:2200–9.PubMed
80.
go back to reference Sperr WR, Stehberger B, Wimazal F, Baghestanian M, Schwartz LB, Kundi M, et al. Serum tryptase measurements in patients with myelodysplastic syndromes. Leuk Lymphoma. 2002;43:1097–105.PubMed Sperr WR, Stehberger B, Wimazal F, Baghestanian M, Schwartz LB, Kundi M, et al. Serum tryptase measurements in patients with myelodysplastic syndromes. Leuk Lymphoma. 2002;43:1097–105.PubMed
81.
go back to reference Valent P, Agis H, Sperr W, Sillaber C, Horny HP. Diagnostic and prognostic value of new biochemical and immunohistochemical parameters in chronic myeloid leukemia. Leuk Lymphoma. 2008;49:635–8.PubMed Valent P, Agis H, Sperr W, Sillaber C, Horny HP. Diagnostic and prognostic value of new biochemical and immunohistochemical parameters in chronic myeloid leukemia. Leuk Lymphoma. 2008;49:635–8.PubMed
82.
go back to reference Valent P, Akin C, Arock M, Brockow K, Butterfield JH, Carter MC, et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2012;157:215–25.PubMedCentralPubMed Valent P, Akin C, Arock M, Brockow K, Butterfield JH, Carter MC, et al. Definitions, criteria and global classification of mast cell disorders with special reference to mast cell activation syndromes: a consensus proposal. Int Arch Allergy Immunol. 2012;157:215–25.PubMedCentralPubMed
83.
go back to reference Escribano L, Orfao A, Villarrubia J, Martín F, Madruga JI, Cuevas M, et al. Sequential immunophenotypic analysis of mast cells in a case of systemic mast cell disease evolving to a mast cell leukemia. Cytometry. 1997;30:98–102.PubMed Escribano L, Orfao A, Villarrubia J, Martín F, Madruga JI, Cuevas M, et al. Sequential immunophenotypic analysis of mast cells in a case of systemic mast cell disease evolving to a mast cell leukemia. Cytometry. 1997;30:98–102.PubMed
84.
go back to reference Orfao A, Escribano L, Villarrubia J, Velasco JL, Cerveró C, Ciudad J, et al. Flow cytometric analysis of mast cells from normal and pathological human bone marrow samples. Identification and enumeration. Am J Pathol. 1996;149:1493–9.PubMedCentralPubMed Orfao A, Escribano L, Villarrubia J, Velasco JL, Cerveró C, Ciudad J, et al. Flow cytometric analysis of mast cells from normal and pathological human bone marrow samples. Identification and enumeration. Am J Pathol. 1996;149:1493–9.PubMedCentralPubMed
85.
go back to reference Escribano L, Navalón R, Núñez R, Díaz Agustín B, Bravo P. Flow cytometry immunophenotypic analysis of human mast cells. In: Robinson JP, Darzynkiewicz Z, Dean P, Orfao A, Rabinovitch P, Wheeless L, editors. Current protocols in cytometry. New York: John Wiley & Sons, Inc; 2000. p. 6.6.1–6.6.18. Escribano L, Navalón R, Núñez R, Díaz Agustín B, Bravo P. Flow cytometry immunophenotypic analysis of human mast cells. In: Robinson JP, Darzynkiewicz Z, Dean P, Orfao A, Rabinovitch P, Wheeless L, editors. Current protocols in cytometry. New York: John Wiley & Sons, Inc; 2000. p. 6.6.1–6.6.18.
86.
go back to reference Escribano L, Diaz-Agustin B, López A, López RN, García-Montero A, Almeida J, et al. Immunophenotypic analysis of mast cells in mastocytosis: when and how to do it. Proposals of the Spanish Network on Mastocytosis (REMA). Cytometry B Clin Cytom. 2004;58B:1–8. Escribano L, Diaz-Agustin B, López A, López RN, García-Montero A, Almeida J, et al. Immunophenotypic analysis of mast cells in mastocytosis: when and how to do it. Proposals of the Spanish Network on Mastocytosis (REMA). Cytometry B Clin Cytom. 2004;58B:1–8.
87.
go back to reference Sonneck K, Florian S, Mullauer L, Wimazal F, Fodinger M, Sperr WR, et al. Diagnostic and subdiagnostic accumulation of mast cells in the bone marrow of patients with anaphylaxis: monoclonal mast cell activation syndrome. Int Arch Allergy Immunol. 2006;142:158–64.PubMed Sonneck K, Florian S, Mullauer L, Wimazal F, Fodinger M, Sperr WR, et al. Diagnostic and subdiagnostic accumulation of mast cells in the bone marrow of patients with anaphylaxis: monoclonal mast cell activation syndrome. Int Arch Allergy Immunol. 2006;142:158–64.PubMed
88.
go back to reference Akin C, Scott LM, Kocabas CN, Kushnir-Sukhov N, Brittain E, Noel P, et al. Demonstration of an aberrant mast cell population with clonal markers in a subset of patients with “idiopathic” anaphylaxis. Blood. 2007;110:2331–3.PubMedCentralPubMed Akin C, Scott LM, Kocabas CN, Kushnir-Sukhov N, Brittain E, Noel P, et al. Demonstration of an aberrant mast cell population with clonal markers in a subset of patients with “idiopathic” anaphylaxis. Blood. 2007;110:2331–3.PubMedCentralPubMed
89.
go back to reference Valent P. Mast cell activation syndromes: definition and classification. Allergy. 2013;68:417–24.PubMed Valent P. Mast cell activation syndromes: definition and classification. Allergy. 2013;68:417–24.PubMed
90.
go back to reference Alvarez-Twose I, Zanotti R, Gonzalez-de-Olano D, Bonadonna P, Vega A, Matito A et al. Nonaggressive systemic mastocytosis (SM) without skin lesions associated with insect-induced anaphylaxis shows unique features versus other indolent SM. J Allergy Clin Immunol 2013 Alvarez-Twose I, Zanotti R, Gonzalez-de-Olano D, Bonadonna P, Vega A, Matito A et al. Nonaggressive systemic mastocytosis (SM) without skin lesions associated with insect-induced anaphylaxis shows unique features versus other indolent SM. J Allergy Clin Immunol 2013
91.
go back to reference Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A. 1995;92:10560–4.PubMedCentralPubMed Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A. 1995;92:10560–4.PubMedCentralPubMed
92.
go back to reference Longley BJ, Tyrrell L, Lu SZ, Ma YS, Langley K, Ding TG, et al. Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis. Establishment of clonality in a human mast cell neoplasm. Nature Genet. 1996;12:312–4.PubMed Longley BJ, Tyrrell L, Lu SZ, Ma YS, Langley K, Ding TG, et al. Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis. Establishment of clonality in a human mast cell neoplasm. Nature Genet. 1996;12:312–4.PubMed
93.
go back to reference Longley Jr BJ, Metcalfe DD, Tharp M, Wang XM, Tyrrell L, Lu SZ, et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci U S A. 1999;96:1609–14.PubMedCentralPubMed Longley Jr BJ, Metcalfe DD, Tharp M, Wang XM, Tyrrell L, Lu SZ, et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci U S A. 1999;96:1609–14.PubMedCentralPubMed
94.
go back to reference Yavuz AS, Lipsky PE, Yavuz S, Metcalfe DD, Akin C. Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. Blood. 2002;100:661–5.PubMed Yavuz AS, Lipsky PE, Yavuz S, Metcalfe DD, Akin C. Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. Blood. 2002;100:661–5.PubMed
95.
go back to reference Sotlar K, Escribano L, Landt O, Möhrle S, Herrero S, Torrelo A, et al. One-step detection of c-kit point mutations using PNA-mediated PCR-clamping and hybridization probes. Am J Pathol. 2003;162:737–46.PubMedCentralPubMed Sotlar K, Escribano L, Landt O, Möhrle S, Herrero S, Torrelo A, et al. One-step detection of c-kit point mutations using PNA-mediated PCR-clamping and hybridization probes. Am J Pathol. 2003;162:737–46.PubMedCentralPubMed
96.
go back to reference Jara-Acevedo M, Garca-Montero A, Teodosio C, Escribano L, Alvarez-Twose I, Sanchez-Munoz L, et al. Well-differentiated systemic mastocytosis (WDSM): a novel form of mastocytosis. Haematologica. 2008;93:91. Jara-Acevedo M, Garca-Montero A, Teodosio C, Escribano L, Alvarez-Twose I, Sanchez-Munoz L, et al. Well-differentiated systemic mastocytosis (WDSM): a novel form of mastocytosis. Haematologica. 2008;93:91.
97.
go back to reference Pullarkat VA, Bueso-Ramos C, Lai R, Kroft S, Wilson CS, Pullarkat ST, et al. Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: analysis of clinicopathologic features and activating c-kit mutations. Am J Hematol. 2003;73:12–7.PubMed Pullarkat VA, Bueso-Ramos C, Lai R, Kroft S, Wilson CS, Pullarkat ST, et al. Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: analysis of clinicopathologic features and activating c-kit mutations. Am J Hematol. 2003;73:12–7.PubMed
98.
go back to reference Pignon JM, Giraudier S, Duquesnoy P, Jouault H, Imbert M, Vainchenker W, et al. A new c-kit mutation in a case of aggressive mast cell disease. Br J Haematol. 1997;96:374–6.PubMed Pignon JM, Giraudier S, Duquesnoy P, Jouault H, Imbert M, Vainchenker W, et al. A new c-kit mutation in a case of aggressive mast cell disease. Br J Haematol. 1997;96:374–6.PubMed
100.
go back to reference Sanchez-Matas I, Matito A, Gonzalez de Olano D, Alvarez-Twose I, Sanchez-Munoz L, de la Hoz Caballer B, et al. Prevalence of hypersensitivity reactions to nonsteroidal anti-inflamatory drugs in 212 patients with mastocytosis in Spain. Allergy. 2009;64:574–5. Sanchez-Matas I, Matito A, Gonzalez de Olano D, Alvarez-Twose I, Sanchez-Munoz L, de la Hoz Caballer B, et al. Prevalence of hypersensitivity reactions to nonsteroidal anti-inflamatory drugs in 212 patients with mastocytosis in Spain. Allergy. 2009;64:574–5.
101.
go back to reference Matito A, Alvarez-Twose I, Sanchez-Munoz L, Manzanero M, Escribano L. Frequency of mast cells-mediator related symptoms during anesthesia in patients with mastocytosis: a retrospective study in 148 risk procedures with anesthesia by the Spanish Network on Mastocytosis (REMA). Allergy. 2010;65:345–6. Matito A, Alvarez-Twose I, Sanchez-Munoz L, Manzanero M, Escribano L. Frequency of mast cells-mediator related symptoms during anesthesia in patients with mastocytosis: a retrospective study in 148 risk procedures with anesthesia by the Spanish Network on Mastocytosis (REMA). Allergy. 2010;65:345–6.
102.
go back to reference Stoevesandt J, Hain J, Kerstan A, Trautmann A. Over- and underestimated parameters in severe Hymenoptera venom-induced anaphylaxis: cardiovascular medication and absence of urticaria/angioedema. J Allergy Clin Immunol. 2012;130:698–704.PubMed Stoevesandt J, Hain J, Kerstan A, Trautmann A. Over- and underestimated parameters in severe Hymenoptera venom-induced anaphylaxis: cardiovascular medication and absence of urticaria/angioedema. J Allergy Clin Immunol. 2012;130:698–704.PubMed
103.••
go back to reference Alvarez-Twose I, Gonzalez-de-Olano D, Sanchez-Munoz L, Matito A, Jara-Acevedo M, Teodosio C, et al. Validation of the REMA score for predicting mast cell clonality and systemic mastocytosis in patients with systemic mast cell activation symptoms. Int Arch Allergy Immunol. 2011;157:275–80. Evaluation of the scoring model proposed by the Spanish Network on Mastocytosis (REMA) to predict for clonal mast cell disorders and systemic mastocytosis in patients presenting with mast cell mediator-related symptoms in the absence of skin lesions of mastocytosis. PubMed Alvarez-Twose I, Gonzalez-de-Olano D, Sanchez-Munoz L, Matito A, Jara-Acevedo M, Teodosio C, et al. Validation of the REMA score for predicting mast cell clonality and systemic mastocytosis in patients with systemic mast cell activation symptoms. Int Arch Allergy Immunol. 2011;157:275–80. Evaluation of the scoring model proposed by the Spanish Network on Mastocytosis (REMA) to predict for clonal mast cell disorders and systemic mastocytosis in patients presenting with mast cell mediator-related symptoms in the absence of skin lesions of mastocytosis. PubMed
104.
go back to reference Gonzalez-de-Olano D, Alvarez-Twose I, Matito A, Sanchez-Munoz L, Kounis NG, Escribano L. Mast cell activation disorders presenting with cerebral vasospasm-related symptoms: a “Kounis-like” syndrome? Int J Cardiol. 2011;150:210–1.PubMed Gonzalez-de-Olano D, Alvarez-Twose I, Matito A, Sanchez-Munoz L, Kounis NG, Escribano L. Mast cell activation disorders presenting with cerebral vasospasm-related symptoms: a “Kounis-like” syndrome? Int J Cardiol. 2011;150:210–1.PubMed
105.
go back to reference Kounis NG, Zavras GM. Histamine-induced coronary artery spasm: the concept of allergic angina. Br J Clin Pract. 1991;45:121–8.PubMed Kounis NG, Zavras GM. Histamine-induced coronary artery spasm: the concept of allergic angina. Br J Clin Pract. 1991;45:121–8.PubMed
106.
go back to reference Alvarez-Twose I, Vano-Galvan S, Sanchez-Munoz L, Morgado JM, Matito A, Torrelo A, et al. Increased serum baseline tryptase levels and extensive skin involvement are predictors for the severity of mast cell activation episodes in children with mastocytosis. Allergy. 2012;67:813–21.PubMedCentralPubMed Alvarez-Twose I, Vano-Galvan S, Sanchez-Munoz L, Morgado JM, Matito A, Torrelo A, et al. Increased serum baseline tryptase levels and extensive skin involvement are predictors for the severity of mast cell activation episodes in children with mastocytosis. Allergy. 2012;67:813–21.PubMedCentralPubMed
107.
go back to reference Bankova LG, Walter JE, Iyengar SR, Lorenzo ME, Hornick JL, Castells MC. Generalized bullous eruption after routine vaccination in a child with diffuse cutaneous mastocytosis. J Allergy Clin Immunol Pract. 2013;1:94–6.PubMed Bankova LG, Walter JE, Iyengar SR, Lorenzo ME, Hornick JL, Castells MC. Generalized bullous eruption after routine vaccination in a child with diffuse cutaneous mastocytosis. J Allergy Clin Immunol Pract. 2013;1:94–6.PubMed
108.•
go back to reference Escribano L, Orfao A. Anaphylaxis in mastocytosis. In: Castells M, editor. Anaphylaxis and hypersensitivity reactions: from molecular markers to rapid desensitization. New York: Humana Press; 2011. p. 257–69. Review of anaphylaxis in mastocytosis. Escribano L, Orfao A. Anaphylaxis in mastocytosis. In: Castells M, editor. Anaphylaxis and hypersensitivity reactions: from molecular markers to rapid desensitization. New York: Humana Press; 2011. p. 257–69. Review of anaphylaxis in mastocytosis.
109.
go back to reference Escribano L, Akin C, Castells M, Orfao A, Metcalfe D. Mastocytosis: current concepts in diagnosis and treatment. Ann Hematol. 2002;81:677–90.PubMed Escribano L, Akin C, Castells M, Orfao A, Metcalfe D. Mastocytosis: current concepts in diagnosis and treatment. Ann Hematol. 2002;81:677–90.PubMed
110.
go back to reference Escribano L, Akin C, Castells M, Schwartz LB. Current options in the treatment of mast cell mediator-related symptoms in mastocytosis. Inflamm Allergy Drug Targets. 2006;5:61–77.PubMed Escribano L, Akin C, Castells M, Schwartz LB. Current options in the treatment of mast cell mediator-related symptoms in mastocytosis. Inflamm Allergy Drug Targets. 2006;5:61–77.PubMed
111.
go back to reference Casale TB, Stokes JR. Future forms of immunotherapy. JACI. 2011;127:8–15. Casale TB, Stokes JR. Future forms of immunotherapy. JACI. 2011;127:8–15.
112.
go back to reference Engler RJ, Davis WS. Rush Hymenoptera venom immunotherapy: successful treatment in a patient with systemic mast cell disease. J Allergy Clin Immunol. 1994;94:556–9.PubMed Engler RJ, Davis WS. Rush Hymenoptera venom immunotherapy: successful treatment in a patient with systemic mast cell disease. J Allergy Clin Immunol. 1994;94:556–9.PubMed
113.
go back to reference Fricker M, Helbling A, Schwartz L, Müller U. Hymenoptera sting anaphylaxis and urticaria pigmentosa: clinical findings and results of venom immunotherapy in ten patients. J Allergy Clin Immunol. 1997;100:11–5.PubMed Fricker M, Helbling A, Schwartz L, Müller U. Hymenoptera sting anaphylaxis and urticaria pigmentosa: clinical findings and results of venom immunotherapy in ten patients. J Allergy Clin Immunol. 1997;100:11–5.PubMed
114.
go back to reference Bonadonna P, Zanotti R, Caruso B, Castellani L, Perbellini O, Colarossi S, et al. Allergen specific immunotherapy is safe and effective in patients with systemic mastocytosis and Hymenoptera allergy. J Allergy Clin Immunol. 2008;121:256–7.PubMed Bonadonna P, Zanotti R, Caruso B, Castellani L, Perbellini O, Colarossi S, et al. Allergen specific immunotherapy is safe and effective in patients with systemic mastocytosis and Hymenoptera allergy. J Allergy Clin Immunol. 2008;121:256–7.PubMed
115.
go back to reference Gonzalez de Olano D, Alvarez-Twose I, Esteban-Lopez MI, Sanchez-Munoz L, de Durana MD, Vega A, et al. Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxis. J Allergy Clin Immunol. 2008;121:519–26.PubMed Gonzalez de Olano D, Alvarez-Twose I, Esteban-Lopez MI, Sanchez-Munoz L, de Durana MD, Vega A, et al. Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxis. J Allergy Clin Immunol. 2008;121:519–26.PubMed
116.
go back to reference Gonzalez de Olano D, Alvarez-Twose I, Vega A, Orfao A, Escribano L. Venom immunotherapy in patients with mastocytosis and hymenoptera venom anaphylaxis. Immunotherapy. 2011;3:637–51.PubMed Gonzalez de Olano D, Alvarez-Twose I, Vega A, Orfao A, Escribano L. Venom immunotherapy in patients with mastocytosis and hymenoptera venom anaphylaxis. Immunotherapy. 2011;3:637–51.PubMed
117.
go back to reference Bonadonna P, Gonzalez de Olano D, Zanotti R, Riccio A, De Ferrari L, Lombardo C, et al. Venom immunotherapy in patients with clonal mast cell disorders: efficacy, safety, and practical considerations. J Allergy Clin Immunol Pract. 2013;1:474–8.PubMed Bonadonna P, Gonzalez de Olano D, Zanotti R, Riccio A, De Ferrari L, Lombardo C, et al. Venom immunotherapy in patients with clonal mast cell disorders: efficacy, safety, and practical considerations. J Allergy Clin Immunol Pract. 2013;1:474–8.PubMed
118.
go back to reference Dubois AE. Mastocytosis and hymenoptera allergy. Curr Opin Allergy Clin Immunol. 2004;4:291–5.PubMed Dubois AE. Mastocytosis and hymenoptera allergy. Curr Opin Allergy Clin Immunol. 2004;4:291–5.PubMed
119.
go back to reference Elberink JNGO, De Monchy JGR, Kors JW, Van Doormaal JJ, Dubois AEJ. Fatal anaphylaxis after a yellow jacket sting, despite venom immunotherapy, in two patients with mastocytosis. J Allergy Clin Immunol. 1997;99:153–4. Elberink JNGO, De Monchy JGR, Kors JW, Van Doormaal JJ, Dubois AEJ. Fatal anaphylaxis after a yellow jacket sting, despite venom immunotherapy, in two patients with mastocytosis. J Allergy Clin Immunol. 1997;99:153–4.
120.
go back to reference Golden DB, Moffitt J, Nicklas RA, Freeman T, Graft DF, Reisman RE, et al. Stinging insect hypersensitivity: a practice parameter update 2011. J Allergy Clin Immunol. 2011;127:852–4.PubMed Golden DB, Moffitt J, Nicklas RA, Freeman T, Graft DF, Reisman RE, et al. Stinging insect hypersensitivity: a practice parameter update 2011. J Allergy Clin Immunol. 2011;127:852–4.PubMed
121.
go back to reference Rueff F, Placzek M, Przybilla B. Mastocytosis and Hymenoptera venom allergy. Curr Opin Allergy Clin Immunol. 2006;6:284–8.PubMed Rueff F, Placzek M, Przybilla B. Mastocytosis and Hymenoptera venom allergy. Curr Opin Allergy Clin Immunol. 2006;6:284–8.PubMed
122.
go back to reference Carter MC, Robyn JA, Bressler PB, Walker JC, Shapiro GG, Metcalfe DD. Omalizumab for the treatment of unprovoked anaphylaxis in patients with systemic mastocytosis. J Allergy Clin Immunol. 2007;119:1550–1.PubMed Carter MC, Robyn JA, Bressler PB, Walker JC, Shapiro GG, Metcalfe DD. Omalizumab for the treatment of unprovoked anaphylaxis in patients with systemic mastocytosis. J Allergy Clin Immunol. 2007;119:1550–1.PubMed
123.
go back to reference Douglass JA, Carroll K, Voskamp A, Bourke P, Wei A, O’Hehir RE. Omalizumab is effective in treating systemic mastocytosis in a nonatopic patient. Allergy. 2010;65:926–7.PubMed Douglass JA, Carroll K, Voskamp A, Bourke P, Wei A, O’Hehir RE. Omalizumab is effective in treating systemic mastocytosis in a nonatopic patient. Allergy. 2010;65:926–7.PubMed
124.
go back to reference Matito A, Blazquez-Goñi C, Morgado JM, Alvarez-Twose I, Mollejo M, Sanchez-Munoz L, et al. Short-term omalizumab treatment in an adolescent with cutaneous mastocytosis. Ann Allergy Asthma Immunol. 2013;111:425–6.PubMed Matito A, Blazquez-Goñi C, Morgado JM, Alvarez-Twose I, Mollejo M, Sanchez-Munoz L, et al. Short-term omalizumab treatment in an adolescent with cutaneous mastocytosis. Ann Allergy Asthma Immunol. 2013;111:425–6.PubMed
126.
go back to reference Kluin-Nelemans HC, Jansen JH, Breukelman H, Wolthers BG, Kluin PM, Kroon HM, et al. Response to interferon alfa-2b in a patient with systemic mastocytosis. N Engl J Med. 1992;326:619–23.PubMed Kluin-Nelemans HC, Jansen JH, Breukelman H, Wolthers BG, Kluin PM, Kroon HM, et al. Response to interferon alfa-2b in a patient with systemic mastocytosis. N Engl J Med. 1992;326:619–23.PubMed
127.
go back to reference Wimazal F, Geissler P, Shnawa P, Sperr WR, Valent P. Severe life-threatening or disabling anaphylaxis in patients with systemic mastocytosis: a single-center experience. Int Arch Allergy Immunol. 2012;157:399–405.PubMed Wimazal F, Geissler P, Shnawa P, Sperr WR, Valent P. Severe life-threatening or disabling anaphylaxis in patients with systemic mastocytosis: a single-center experience. Int Arch Allergy Immunol. 2012;157:399–405.PubMed
128.•
go back to reference Alvarez-Twose I, Morgado JM, Sanchez-Munoz L, Garcia-Montero A, Mollejo M, Orfao A, et al. Current state of biology and diagnosis of clonal mast cell diseases in adults. Int J Lab Hematol. 2012;34:445–60. Description of the rationale usage of the most sensitive diagnostic techniques available to improve the diagnosis, classification and prognostic stratification of clonal mast cell disorders. PubMed Alvarez-Twose I, Morgado JM, Sanchez-Munoz L, Garcia-Montero A, Mollejo M, Orfao A, et al. Current state of biology and diagnosis of clonal mast cell diseases in adults. Int J Lab Hematol. 2012;34:445–60. Description of the rationale usage of the most sensitive diagnostic techniques available to improve the diagnosis, classification and prognostic stratification of clonal mast cell disorders. PubMed
129.
go back to reference Carter MC, Uzzaman A, Scott LM, Metcalfe DD, Quezado Z. Pediatric mastocytosis: routine anesthetic management for a complex disease. Anesth Analg. 2008;107:422–7.PubMedCentralPubMed Carter MC, Uzzaman A, Scott LM, Metcalfe DD, Quezado Z. Pediatric mastocytosis: routine anesthetic management for a complex disease. Anesth Analg. 2008;107:422–7.PubMedCentralPubMed
130.
go back to reference Ahmad N, Evans P, Lloyd-Thomas AR. Anesthesia in children with mastocytosis—a case based review. Paediatr Anaesth. 2009;19:97–107.PubMed Ahmad N, Evans P, Lloyd-Thomas AR. Anesthesia in children with mastocytosis—a case based review. Paediatr Anaesth. 2009;19:97–107.PubMed
131.
go back to reference Matito A, Bartolome-Zavala B, Alvarez-Twose I, Sanchez-Matas I, Escribano L. IgE-mediated anaphylaxis to Hippobosca equina in a patient with systemic mastocytosis. Allergy. 2009;65:1058–9.PubMed Matito A, Bartolome-Zavala B, Alvarez-Twose I, Sanchez-Matas I, Escribano L. IgE-mediated anaphylaxis to Hippobosca equina in a patient with systemic mastocytosis. Allergy. 2009;65:1058–9.PubMed
132.
go back to reference Reiter N, Reiter M, Altrichter S, Becker S, Kristensen T, Broesby-Olsen S, et al. Anaphylaxis caused by mosquito allergy in systemic mastocytosis. Lancet. 2013;382:1380.PubMed Reiter N, Reiter M, Altrichter S, Becker S, Kristensen T, Broesby-Olsen S, et al. Anaphylaxis caused by mosquito allergy in systemic mastocytosis. Lancet. 2013;382:1380.PubMed
Metadata
Title
Anaphylaxis as a Clinical Manifestation of Clonal Mast Cell Disorders
Authors
A. Matito
I. Alvarez-Twose
J. M. Morgado
L. Sánchez-Muñoz
A. Orfao
L. Escribano
Publication date
01-08-2014
Publisher
Springer US
Published in
Current Allergy and Asthma Reports / Issue 8/2014
Print ISSN: 1529-7322
Electronic ISSN: 1534-6315
DOI
https://doi.org/10.1007/s11882-014-0450-8

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