Familial hypertryptasemia with associated mast cell activation syndrome
Open accessThe claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Some patients with HαT might meet the criteria for MCAS.
“Some patients might meet the criteria for MCAS [46,47].”
From Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders (2023) · cites this paper as [46]
The paper’s main text (page not provided) reports MCAS diagnoses in four members of a family with inherited hypertryptasemia, supporting the possibility that some affected patients meet MCAS criteria. It does not establish that those family members had HαT specifically, so the HαT-specific attribution is not fully supported. (LLM, conf=0.82)
Experimental — accuracy not yet measuredAn approximately two to three times higher prevalence of hereditary alpha-tryptasemia has been reported in two large cohorts of systemic mastocytosis patients, and hereditary alpha-tryptasemia concurrently occurring with MCAS has been reported.
“However, an approximately two to three times higher prevalence of H a T has been reported in two large cohorts of SM patients 25,129 ; also, H a T concurrently occurring with MCAS has been reported. 130,131”
From Selecting the Right Criteria and Proper Classification to Diagnose Mast Cell Activation Syndromes: A Critical Review (2021) · cites this paper as [131]
Split into 2 atoms — 0 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 1 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
Swerdlow, S. H. (2017) · Medical Entomology and Zoology · Cited by 12,933 · see citing works
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323 · see citing works
Valent, P., Akin, C., Arock, M., Brockow, K., Butterfield, J. H., Carter, M. C., Castells, M., Escribano, L., Hartmann, K., Lieberman, P., et al. (2012) · International Archives of Allergy and Immunology · doi:10.1159/000328760 · Cited by 654 · see citing works
Self-citationMast cell activation syndrome: Proposed diagnostic criteria
Akin, C., Valent, P., & Metcalfe, D. D. (2010) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2010.08.035 · Cited by 327 · see citing works
Self-citationÁlvarez-Twose, I., González de Olano, D., Sánchez-Muñoz, L., Matito, A., Esteban-López, M. I., Vega, A., Mateo, M. B., Alonso Díaz de Durana, M. D., de la Hoz, B., del Pozo Gil, M. D., et al. (2010) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2010.02.019 · Cited by 294 · see citing works
Akin, C., Scott, L. M., Kocabas, C. N., Kushnir-Sukhov, N., Brittain, E., Noel, P., & Metcalfe, D. D. (2007) · Blood · doi:10.1182/blood-2006-06-028100 · Cited by 240 · see citing works
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 · see citing works
Mast cell activation syndromes: definition and classification
Valent, P. (2013) · Allergy · doi:10.1111/all.12126 · Cited by 120 · see citing works
Familial Occurrence of Systemic Mast Cell Activation Disease
Molderings, G. J., Haenisch, B., Bogdanow, M., Fimmers, R., & Nöthen, M. M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0076241 · Cited by 94 · see citing works
Mastocytosis: a paradigmatic example of a rare disease with complex biology and pathology.
Valent, P. (2013) · Europe PMC (PubMed Central) · Cited by 55 · see citing works
Haenisch, B., Nöthen, M. M., & Molderings, G. J. (2012) · Immunology · doi:10.1111/j.1365-2567.2012.03627.x · Cited by 48 · see citing works
Sputum adiponectin as a marker for western red cedar asthma
Biagioni, B. J., Pui, M. M., Fung, E., et al. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2014.06.037 · Cited by 4 · see citing works
Flagged first, then by citations
Research works printed but not linked: 8
- Ali Assad N, Sood A. Leptin, adiponectin and pulmonary diseases. Biochimie 2012;94:2180-9.
- Shore SA, Terry RD, Flynt L, Xu A, Hug C. Adiponectin attenuates allergen-induced airway inflammation and hyperresponsiveness in mice. J Allergy Clin Immunol 2006;118:389-95.
- Medoff BD, Okamoto Y, Leyton P, Weng M, Sandall BP, Raher MJ, et al. Adiponectin deficiency increases allergic airway inflammation and pulmonary vascular remodeling. Am J Respir Crit Care Med 2009;41:397-406.
- Carlsten C, Dybuncio A, Pui MM, Chan-Yeung M. Respiratory impairment and systemic inflammation in cedar asthmatics removed from exposure. PLoS One 2013;8:e57166.
- Sood A, Qualls C, Seagrave J, Stidley C, Archibeque T, Berwick M, et al. Effect of specific allergen inhalation on serum adiponectin in human asthma. Chest 2009; 135:287-94.
- Sood A, Seagrave J, Herbert G, Harkins M, Alam Y, Chiavaroli A, et al. High sputum total adiponectin is associated with low odds for asthma. J Asthma 2014;51:459-66.
- Holguin F, Rojas M, Brown LA, Fitzpatrick AM. Airway and plasma leptin and adiponectin in lean and obese asthmatics and controls. J Asthma 2011;48:217-23.
- Sood A, Cui X, Qualls C, Beckett WS, Gross MD, Steffes MW, et al. Association be- tween asthma and serum adiponectin concentration in women. Thorax 2008;63:877-82.
Cited by
Sorted by citations
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 · see citing works
Lyons, J. J. (2018) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2018.04.003 · Cited by 179 · see citing works
Mast cell proteases as pharmacological targets
Caughey, G. H. (2015) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2015.04.045 · Cited by 151 · see citing works
Therapeutic targeting of cathepsin C: from pathophysiology to treatment
Korkmaz, B., Caughey, G. H., Chapple, I., Gauthier, F., Hirschfeld, J., Jenne, D. E., Kettritz, R., Lalmanach, G., Lamort, A., Lauritzen, C., et al. (2018) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2018.05.011 · Cited by 141 · see citing works
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 · see citing works
Weiler, C. R., Austen, K. F., Akin, C., Barkoff, M. S., Bernstein, J. A., Bonadonna, P., Butterfield, J. H., Carter, M., Fox, C. C., Maitland, A., et al. (2019) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2019.08.023 · Cited by 123 · see citing works
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 · see citing works
Kucharik, A. H., & Chang, C. (2020) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-019-08755-8 · Cited by 122 · see citing works
Diagnosis of mast cell activation syndrome: a global "consensus-2"
Afrin, L. B., Ackerley, M. B., Bluestein, L. S., Brewer, J. H., Brook, J. B., Buchanan, A. D., Cuni, J. R., Davey, W. P., Dempsey, T. T., Dorff, S. R., et al. (2021) · Diagnosis · doi:10.1515/dx-2020-0005 · Cited by 115 · see citing works
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 · see citing works
Gülen, T., Akin, C., Bonadonna, P., Siebenhaar, F., Broesby-Olsen, S., Brockow, K., Niedoszytko, M., Nedoszytko, B., Oude Elberink, H. N. G., Butterfield, J. H., et al. (2021) · The Journal of Allergy and Clinical Immunology: In Practice · doi:10.1016/j.jaip.2021.06.011 · Cited by 83 · see citing works
“However, an approximately two to three times higher prevalence of HaT has been reported in two large cohorts of SM patients(25,129); also, HaT concurrently occurring with MCAS has been reported.(130,131) Therefore, more research is warranted to understand the relationship between HaT and MCAS.”
BackgroundThe serum tryptase test: an emerging robust biomarker in clinical hematology
Valent, P., Sperr, W. R., Sotlar, K., Reiter, A., Akin, C., Gotlib, J., Horny, H.-P., & Arock, M. (2014) · Expert Review of Hematology · doi:10.1586/17474086.2014.955008 · Cited by 83 · see citing works
Self-citationVitte, J., Sabato, V., Tacquard, C., Garvey, L. H., Michel, M., Mertes, P.-M., Ebo, D. G., Schwartz, L. B., & Castells, M. C. (2021) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2021.03.011 · Cited by 79 · see citing works
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 · see citing works
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 · see citing works
Frieri, M. (2015) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-015-8487-6 · Cited by 65 · see citing works
Boehm, T., Reiter, B., Ristl, R., Petroczi, K., Sperr, W., Stimpfl, T., Valent, P., & Jilma, B. (2019) · Allergy · doi:10.1111/all.13663 · Cited by 53 · see citing works
Self-citationMediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis
Brockow, K., Plata‐Nazar, K., Lange, M., Nedoszytko, B., Niedoszytko, M., & Valent, P. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22052684 · Cited by 48 · see citing works
Mast Cell Activation Syndrome: Tools for Diagnosis and Differential Diagnosis
Weiler, C. R. (2019) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2019.08.022 · Cited by 46 · see citing works
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 · see citing works
Bonamichi-Santos, R., Yoshimi-Kanamori, K., Giavina-Bianchi, P., & Aun, M. V. (2018) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2018.04.004 · Cited by 42 · see citing works
González‐de‐Olano, D., Navarro‐Navarro, P., Muñoz‐González, J. I., Sánchez‐Muñoz, L., Henriques, A., de‐Andrés‐Martín, A., Peralta‐Arjonilla, D., Mayado, A., Jara‐Acevedo, M., García‐Montero, A. C., et al. (2024) · Allergy · doi:10.1111/all.15911 · Cited by 38 · see citing works
Elevated Serum Tryptase in Non-Anaphylaxis Cases: A Concise Review
Lee, A. Y. S. (2020) · International Archives of Allergy and Immunology · doi:10.1159/000506199 · Cited by 36 · see citing works
Russell, N., Jennings, S., Jennings, B., Slee, V., Sterling, L., Castells, M., Valent, P., & Akin, C. (2019) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2018.07.032 · Cited by 31 · see citing works
Self-citationLipidomic analysis of urinary exosomes from hereditary α‐tryptasemia patients and healthy volunteers
Glover, S. C., Nouri, M., Tuna, K. M., Alvarez, L. B. M., Ryan, L. K., Shirley, J. F., Tang, Y., Denslow, N. D., & Alli, A. A. (2019) · FASEB BioAdvances · doi:10.1096/fba.2019-00030 · Cited by 28 · see citing works
Ebo, D. G., De Puysseleyr, L. P., Van Gasse, A. L., Elst, J., Poorten, M.-L. V. D., Faber, M. A., Mertens, C., Van Houdt, M., Hagendorens, M. M., Sermeus, L., et al. (2021) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2021.03.050 · Cited by 26 · see citing works
Alpha-tryptase as a risk-modifying factor for mast cell–mediated reactions
Shin, H., & Lyons, J. J. (2024) · Current Allergy and Asthma Reports · doi:10.1007/s11882-024-01136-y · Cited by 24 · see citing works
Molderings, G. J. (2016) · Translational research · doi:10.1016/j.trsl.2016.01.001 · Cited by 22 · see citing works
Ebo, D. G., Beyens, M. M. J., Heremans, K., van der Poorten, M. M., Gasse, A. L. V., Mertens, C. H., Houdt, M. V., Sabato, V., & Elst, J. (2022) · Current Pharmaceutical Design · doi:10.2174/1381612829666221025091827 · Cited by 21 · see citing works
Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders
Beyens, M., Toscano, A., Ebo, D., Gülen, T., & Sabato, V. (2023) · Diagnostics · doi:10.3390/diagnostics13243662 · Cited by 22 · see citing works
Arock, M., Sotlar, K., Gotlib, J. R., Sperr, W. R., Hartmann, K., Schwartz, L. B., Akin, C., Horny, H., & Valent, P. (2019) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2019.1703974 · Cited by 18 · see citing works
Mast Cell–Targeting Therapies in Mast Cell Activation Syndromes
Sabato, V., Beyens, M. M. J., Toscano, A., Gasse, A. L. V., & Ebo, D. G. (2024) · Current Allergy and Asthma Reports · doi:10.1007/s11882-023-01123-9 · Cited by 17 · see citing works
Insect Sting Anaphylaxis—Or Mastocytosis—Or Something Else?
Golden, D. B. K., & Carter, M. C. (2019) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2019.01.014 · Cited by 16 · see citing works
Mast cell activation syndrome: is anaphylaxis part of the phenotype? A systematic review
Sabato, V., Michel, M., Blank, U., Ebo, D. G., & Vitte, J. (2021) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000000768 · Cited by 16 · see citing works
Mastocytosis and related entities: A practical roadmap
Beyens, M., Elst, J., van der Poorten, M.-L., Van Gasse, A., Toscano, A., Verlinden, A., Vermeulen, K., Maes, M.-B., Oude Elberink, J. N. G. H., Ebo, D., et al. (2023) · Acta Clinica Belgica · doi:10.1080/17843286.2022.2137631 · Cited by 13 · see citing works
Mast Cell Activation Syndrome Update—A Dermatological Perspective
Mihele, D., Nistor, P., Bruma, G., Mitran, C. I., Mitran, M. I., Condrat, C. E., Țovaru, M., Tampa, M. Ş., & Georgescu, S. R. (2023) · Journal of Personalized Medicine · doi:10.3390/jpm13071116 · Cited by 12 · see citing works
Dreyfus, D. H. (2016) · Immunology and Allergy Clinics of North America · doi:10.1016/j.iac.2016.08.010 · Cited by 8 · see citing works
Mast Cell Activation Syndromes
Bonamichi-Santos, R., & Castells, M. (2016) · Current Treatment Options in Allergy · doi:10.1007/s40521-016-0100-6 · Cited by 9 · see citing works
Greenberger, P. A., & Metcalfe, D. D. (2019) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2018.11.019 · Cited by 6 · see citing works
Increased TPSAB1 Copy Number in a Family With Elevated Basal Serum Levels of Tryptase
Hernández-Hernández, L., Sanz, C., Marcos-Vadillo, E., Garcı́a-Sánchez, A., Moreno, E. S., Lorente, F., González‐de‐Olano, D., Davila, I. J., & Isidoro‐García, M. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.577081 · Cited by 5 · see citing works
Sexual Dimorphism in Allergic and Mast Cell-Associated Diseases
Kotha, A., Maldonado, T. D., Hamze, H., Hussain, Z. Y., Gobinathan, N., Yao, A. Z., Abudulkadir, M., Ching, J. M., & Ryan, J. J. (2026) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-026-09150-w · Cited by 2 · see citing works
Raccomandazioni sull'uso della triptasi nella diagnosi dell'anafilassi e della mastocitosi
Platzgummer, S., Caponi, L., Sargentini, V., Visentini, D., Brusca, I., Bizzaro, N., Pesce, G., Bagnasco, M., Deleonardi, G., Caruso, B., et al. (2019) · La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine · doi:10.23736/s1825-859x.19.00022-7 · Cited by 2 · see citing works
The Curious Case of Elevated Tryptase: Workup and Differential in Family of Four
Cochran, A. L., Coop, C. A., Neaves, B. I., & Wood, S. T. (2023) · Cureus · doi:10.7759/cureus.38065 · Cited by 2 · see citing works
Tryptase Increase without Mastocytosis or Anaphylaxis
Ledford, D. K., & Akin, C. (2017) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2016.12.017
A Difficult Case of Mastocytic Colitis with Elevated Tryptase
Schussler, E., & Lieberman, P. (2020) · The Journal of Allergy and Clinical Immunology In Practice · doi:10.1016/j.jaip.2020.04.060
To Evaluate the Efficacy of Vitamin-D as an Addon Therapy in Patients with Allergic Rhinitis
Reddy, R. N., Sruthi, V., Sharath Chandra Goud, C., & SOWMINI, K. (2020) · International Journal of Current Research and Review · doi:10.31782/ijcrr.2020.12185
Hereditary Alpha Tryptasemia: Survey of Concomitant Genetic Testing
Butterfield, J. H., Bhasin, A. K., Ishmael, L., & Squire, J. D. (2025) · International Archives of Allergy and Immunology · doi:10.1159/000544704
Mastocytosis in the Pediatric Patient
Giannetti, A., Neri, I., & Ricci, G. (2024) · Springer eBooks · doi:10.1007/978-3-031-71283-8_19
Chen, D., & George, T. I. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-10940-9.00021-6
Platzgummer, S., SIPMeL, A. N. D. G.-A., Onida, R., Bruno, L., Caponi, L., Anzivino, P., Conte, M., ZANONI, G., Ghisellini, S., Deleonardi, G., et al. (2026) · La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine · doi:10.23736/s1825-859x.25.00312-3
Premières étapes dans l'interaction hôte-pathogène : rôle de l'immunité locale et innée
Michel, M. (2022) · theses.fr (ABES) · doi:10.70675/4647f4d2zd802z40abza572z8ff228db523f
Hypersensitivity Reactions to Biologics: Advances in Diagnosis and Management
Yang, B. C. (2026) · Current Allergy and Asthma Reports · doi:10.1007/s11882-026-01298-x
- Authors
- Sabato, V., Van De Vijver, E., Hagendorens, M., Vrelust, I., Reyniers, E., Fransen, E., Bridts, C., De Clerck, L., Mortier, G., Valent, P., & Ebo, D.
- Affiliations
- University of Antwerp (BE)
- Antwerp University Hospital (BE)
- Ludwig Boltzmann Institute for Hematology and Oncology (AT)
- Corresponding author
- Ebo, Didier
- Venue
- Journal of Allergy and Clinical Immunology
- Publisher
- Elsevier BV
- Published
- 2014-12
- Volume
- 134
- Issue
- 6
- Pages
- 1448-1450.e3
- ISSN
- 0091-6749 (ISSN-L)
- OpenAlex
- W1990366558
- Cited by
- 52
- References
- 11
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 3 · 2023: 4 · 2022: 3 · 2021: 9 · 2020: 5 · 2019: 9 · 2018: 6 · 2017: 1 · 2016: 4 · 2015: 2 · 2014: 1
- FWCI
- 1.22
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Allergy and Clinical Immunology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
- Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- mast cell activation syndrome, systemic mastocytosis, serum tryptase, mast cell activation, mast cell disease, anaphylaxis, urticaria, flushing, diagnostic criteria
- MeSH terms
- Adolescent, Adult, Child, Preschool, Female, Genotype, Humans, Infant, Genetic Linkage, Male, Mastocytosis, Metabolic Diseases, Middle Aged, Pedigree, Tryptases, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
