The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Hereditary alpha-tryptasemia
Abstract
PURPOSE OF REVIEW: To discuss our evolving knowledge about the genetic variations in human tryptase and recent advances in associated clinical phenotypes. RECENT FINDINGS: Hereditary alpha-tryptasemia (HAT) is an autosomal dominant genetic trait and a common cause of elevated basal serum tryptase (BST) in Western populations. It is a risk factor for severe anaphylaxis and an established modifier of mast cell mediator-associated symptoms among patients with systemic mastocytosis (SM). SUMMARY: The unique properties of naturally occurring alpha/beta-tryptase heterotetramers may explain certain elements of phenotypes associated with HAT. Understanding the physiology of tryptases and how this may relate to the clinical features associated with HAT is the first step in identifying optimal medical management and targets for novel therapeutics.
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The prevalence of SM is around 10% in patients experiencing anaphylaxis after Hymenoptera sting and 5% of all cases of anaphylaxis.
“the prevalence on SM sets around 10% in patients experiencing anaphylaxis after Hymenoptera sting (21, 61) and 5% of all cases of anaphylaxis (62, 63).”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [21]
The prevalence of HαT is estimated at around 5% of the general population.
“The prevalence of HαT is estimated at around 5% of the general population.”
From Defining “Normal” basal serum tryptase levels: a context-dependent approach to improve diagnostics in systemic mastocytosis (2025) · cites this paper as [21]
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Cites
Lyons, J. J., Yu, X., Hughes, J. D., Le, Q. T., Jamil, A., Bai, Y., Ho, N., Zhao, M., Liu, Y., O'Connell, M. P., et al. (2016) · Nature Genetics · doi:10.1038/ng.3696 · Cited by 394
Lyons, J. J., Chovanec, J., O’Connell, M. P., Liu, Y., Šelb, J., Zanotti, R., Bai, Y., Kim, J., Le, Q. T., DiMaggio, T., et al. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2020.06.035 · Cited by 230
Self-citationEpidemiology, Prognosis, and Risk Factors in Mastocytosis
Brockow, K. (2014) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2014.01.003 · Cited by 198
Hallgren, J., & Pejler, G. (2006) · FEBS Journal · doi:10.1111/j.1742-4658.2006.05211.x · Cited by 190
Greiner, G., Sprinzl, B., Górska, A., Ratzinger, F., Gurbisz, M., Witzeneder, N., Schmetterer, K. G., Gisslinger, B., Uyanik, G., Hadzijusufovic, E., et al. (2021) · Blood · doi:10.1182/blood.2020006157 · Cited by 189
Lyons, J. J. (2018) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2018.04.003 · Cited by 179
Sakai, K., Ren, S., & Schwartz, L. B. (1996) · Journal of Clinical Investigation · doi:10.1172/jci118523 · Cited by 159
Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3
Pallaoro, M., Fejzo, M. S., Shayesteh, L., Blount, J. L., & Caughey, G. H. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.6.3355 · Cited by 146
Lyons, J. J., Sun, G., Stone, K. D., Nelson, C., Wisch, L., O'Brien, M., Jones, N., Lindsley, A., Komarow, H. D., Bai, Y., et al. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2013.11.039 · Cited by 136
Mast cell activation syndrome and mastocytosis: initial treatment options and long-term management
Castells, M., & Butterfield, J. (2019) · The Journal of Allergy and Clinical Immunology: In Practice · doi:10.1016/j.jaip.2019.02.002 · Cited by 135
Le, Q. T., Lyons, J. J., Naranjo, A. N., Olivera, A., Lazarus, R. A., Metcalfe, D. D., Milner, J. D., & Schwartz, L. B. (2019) · Journal of Experimental Medicine · doi:10.1084/jem.20190701 · Cited by 126
Schwartz, L. B., Min, H.-K., Ren, S., Xia, H.-Z., Hu, J., Zhao, W., Moxley, G., & Fukuoka, Y. (2003) · The Journal of Immunology · doi:10.4049/jimmunol.170.11.5667 · Cited by 120
Hereditary alpha-tryptasemia: UK prevalence and variability in disease expression
Robey, R. C., Wilcock, A., Bonin, H., Beaman, G., Myers, B., Grattan, C., Briggs, T. A., & Arkwright, P. D. (2020) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2020.05.057 · Cited by 119
An Allosteric Anti-tryptase Antibody for the Treatment of Mast Cell-Mediated Severe Asthma
Maun, H. R., Jackman, J. K., Choy, D. F., Loyet, K. M., Staton, T. L., Jia, G., Dressen, A., Hackney, J. A., Bremer, M. C. D., Walters, B. T., et al. (2019) · Cell · doi:10.1016/j.cell.2019.09.009 · Cited by 113
Youngblood, B. A., Brock, E. C., Leung, J., Falahati, R., Bryce, P. J., Bright, J. M., Williams, J. C., Shultz, L. D., Greiner, D. L., Brehm, M. A., et al. (2019) · International Archives of Allergy and Immunology · doi:10.1159/000501637 · Cited by 111
Tryptase as a polyfunctional component of mast cells
Atiakshin, D., Buchwalow, I., Samoilova, V. E., & Tiemann, M. (2018) · Histochemistry and Cell Biology · doi:10.1007/s00418-018-1659-8 · Cited by 101
Hereditary alpha tryptasemia is not associated with specific clinical phenotypes
Chollet, M. B., & Akin, C. (2022) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.06.017 · Cited by 90
Genetic deficiency of human mast cell a‐tryptase
Soto, D., Malmsten, C., Blount, J. L., Muilenburg, D. J., & Caughey, G. H. (2002) · Clinical & Experimental Allergy · doi:10.1046/j.1365-2222.2002.01416.x · Cited by 89
Clinical characteristics and risk profile of patients with elevated baseline serum tryptase
Fellinger, C., Hemmer, W., Wöhrl, S., Sesztak‐Greinecker, G., Jarisch, R., & Wantke, F. (2014) · Allergologia et Immunopathologia · doi:10.1016/j.aller.2014.05.002 · Cited by 89
The Crystal Structure of Human α1-Tryptase Reveals a Blocked Substrate-binding Region
Marquardt, U., Zettl, F., Huber, R., Bode, W., & Sommerhoff, C. P. (2002) · Journal of Molecular Biology · doi:10.1016/s0022-2836(02)00625-3 · Cited by 85
Giannetti, M. P., Weller, E., Bormans, C., Novak, P., Hamilton, M. J., & Castells, M. (2021) · Annals of Allergy, Asthma & Immunology · doi:10.1016/j.anai.2021.01.016 · Cited by 84
Trivedi, N. N., Tamraz, B., Chu, C., Kwok, P., & Caughey, G. H. (2009) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2009.07.026 · Cited by 75
Sabato, V., Chovanec, J., Faber, M., Milner, J. D., Ebo, D., & Lyons, J. J. (2018) · Journal of Clinical Immunology · doi:10.1007/s10875-018-0506-y · Cited by 73
The Genetic Basis and Clinical Impact of Hereditary Alpha-Tryptasemia
Luskin, K. T., White, A. A., & Lyons, J. J. (2021) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2021.03.005 · Cited by 67
Clinical relevance of inherited genetic differences in human tryptases
Glover, S. C., Carter, M. C., Korošec, P., Bonadonna, P., Schwartz, L. B., Milner, J. D., Caughey, G. H., Metcalfe, D. D., & Lyons, J. J. (2021) · Annals of Allergy, Asthma & Immunology · doi:10.1016/j.anai.2021.08.009 · Cited by 64
Mast cell tryptases in allergic inflammation and immediate hypersensitivity
Lyons, J. J., & Yi, T. (2021) · Current Opinion in Immunology · doi:10.1016/j.coi.2021.04.001 · Cited by 55
Sprinzl, B., Greiner, G., Uyanik, G., Arock, M., Haferlach, T., Sperr, W. R., Valent, P., & Hoermann, G. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22052458 · Cited by 51
Giannetti, M. P., Akin, C., Hufdhi, R., Hamilton, M. J., Weller, E., van Anrooij, B., Lyons, J. J., Hornick, J. L., Pinkus, G., Castells, M., et al. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2020.11.017 · Cited by 43
Hereditary alpha-tryptasemia: a commonly inherited modifier of anaphylaxis
Wu, R., & Lyons, J. J. (2021) · Current Allergy and Asthma Reports · doi:10.1007/s11882-021-01010-1 · Cited by 43
Arock, M., Hoermann, G., Sotlar, K., Hermine, O., Sperr, W. R., Hartmann, K., Brockow, K., Akin, C., Triggiani, M., Broesby‐Olsen, S., et al. (2022) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2022.04.004 · Cited by 42
Immunology and clinical manifestations of non-clonal mast cell activation syndrome
Cardet, J.-C., Castells, M. C., & Hamilton, M. J. (2013) · Current Allergy and Asthma Reports · doi:10.1007/s11882-012-0326-8 · Cited by 39
Konnikova, L., Robinson, T. O., Owings, A. H., Shirley, J. F., Davis, E. M., Tang, Y., Wall, S. M., Li, J., Hasan, M., Gharaibeh, R. Z., et al. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.04.004 · Cited by 30
Clinical response to omalizumab in patients with hereditary α-tryptasemia
Alvarez, L. B. M., Barker, R., Nelson, C. G., DiMaggio, T., Stone, K. D., Milner, J. D., Rosenthal, J. A., Petroni, D., Glover, S. C., & Lyons, J. J. (2019) · Annals of Allergy Asthma & Immunology · doi:10.1016/j.anai.2019.09.026 · Cited by 29
O’Connell, M. P., & Lyons, J. J. (2022) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000000813 · Cited by 20
Vazquez, M., Chovanec, J. F., Kim, J., DiMaggio, T., Milner, J. D., Francomano, C. A., Gurnett, C. A., Ritelli, M., Colombi, M., & Lyons, J. J. (2022) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2022.100094 · Cited by 13
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Metadata
- Authors
- Bonadonna, P., Nalin, F., & Olivieri, F.
- Affiliations
- University of Verona (IT)
- Azienda Ospedaliera Universitaria Integrata Verona (IT)
- Corresponding author
- Bonadonna, Patrizia
- Venue
- Current Opinion in Allergy & Clinical Immunology
- Published
- 2022-08-04
- Volume
- 22
- Issue
- 5
- Pages
- 277-282
- ISSN
- 1473-6322 (ISSN-L)
- 1528-4050
- OpenAlex
- W4292451766
- Cited by
- 18
- References
- 35
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 3 · 2023: 2 · 2022: 2
- FWCI
- 0.37
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Opinion in Allergy and Clinical Immunology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
- Health Sciences › Medicine › Immunology and Allergy › Food Allergy and Anaphylaxis Research
- Health Sciences › Medicine › Pharmacology (medical) › Drug-Induced Adverse Reactions
- Keywords
- hereditary alpha-tryptasemia, tryptase, serum tryptase, anaphylaxis, systemic mastocytosis, mast cell mediators, autosomal dominant inheritance, genetic variants
- MeSH terms
- Mast Cell Activation Syndrome, Anaphylaxis, Humans, Mast Cells, Mastocytosis, Mastocytosis, Systemic, Tryptases
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