Article
Allergy
Leander P. De Puysseleyr, Didier G. Ebo, Jessy Elst, Margaretha A. Faber, Marie-Line Van der Poorten, Athina L. Van Gasse, Chris H. Bridts, Christel Mertens, Michel Van Houdt, Margo M. Hagendorens, Anke Verlinden, Katrien Vermeulen, Marie-Berthe Maes, Zwi N. Berneman, Vito Sabato
Summary: In patients with severe anaphylaxis but no mastocytosis in the skin and baseline serum tryptase less than 30 ng/mL, detection of the KIT D816V mutation in peripheral blood may not be very helpful in diagnosing primary mast cell disorders.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Article
Allergy
Charles F. Schuler, Sofija Volertas, Dilawar Khokhar, Huseyin Yuce, Lu Chen, Onur Baser, Jenny M. Montejo, Cem Akin
Summary: Using an insurance claims database and a retrospective study at the University of Michigan, it was found that the prevalence of HVA in the US is lower than previously reported, while the prevalence of mastocytosis in patients with HVA is higher but still lower than previously reported. There was no correlation between tryptase level and reaction severity in patients undergoing VIT.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Allergy
Julij Selb, Matija Rijavec, Renato Erzen, Mihaela Zidarn, Peter Kopac, Matevz Skerget, Nissera Bajrovic, Ajda Demsar Luzar, Young Hwan Park, Yihui Liu, Vladka Curin Serbec, Samo Zver, Mitja Kosnik, Jonathan J. Lyons, Peter Korosec
Summary: The study found that routine screening for KIT p.D816V can identify clonal diseases in high-risk patients with HVA who are often missed when only BST levels are used for diagnosis.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Review
Hematology
Melody C. Carter, Dean D. Metcalfe
Summary: Historically, understanding of human mast cells has lagged behind other cell lineages, and there is currently no identified pharmacological agent that can completely and selectively inhibit human MC function. Mast cell diseases are categorized as intrinsic or extrinsic to the MC compartment, with mediators playing a key role in MC activation disorders.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Review
Allergy
Theo Gulen, Cem Akin, Patrizia Bonadonna, Frank Siebenhaar, Sigurd Broesby-Olsen, Knut Brockow, Marek Niedoszytko, Boguslaw Nedoszytko, Hanneke N. G. Oude Elberink, Joseph H. Butterfield, Wolfgang R. Sperr, Ivan Alvarez-Twose, Hans-Peter Horny, Karl Sotlar, Juliana Schwaab, Mohamad Jawhar, Roberta Zanotti, Gunnar Nilsson, Jonathan J. Lyons, Melody C. Carter, Tracy I. George, Olivier Hermine, Jason Gotlib, Alberto Orfao, Massimo Triggiani, Andreas Reiter, Karin Hartmann, Mariana Castells, Michel Arock, Lawrence B. Schwartz, Dean D. Metcalfe, Peter Valent
Summary: Research on mast cell activation and syndromes has advanced in recent years, but there is ongoing debate about diagnostic and classification criteria, highlighting the importance of applying consensus criteria to ensure accurate diagnosis and treatment.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Review
Allergy
Mark Kacar, Matija Rijavec, Julij Selb, Peter Korosec
Summary: The association between Hymenoptera venom-triggered anaphylaxis and clonal mast cell-related disorders (cMCD) has been known for decades. Recent studies have revealed a high prevalence of the KIT p.D816V missense variant in patients with severe Hymenoptera venom-triggered anaphylaxis, suggesting that the impact of cMCD on anaphylaxis may be underestimated. Moreover, the discovery of hereditary alpha-tryptasemia (H alpha T) as a genetic modifier of anaphylaxis has provided further insights into the pathogenesis of these conditions.
CLINICAL AND EXPERIMENTAL ALLERGY
(2023)
Article
Allergy
Matthew P. Giannetti, Grace Godwin, Emily Weller, Joseph H. Butterfield, Mariana Castells
Summary: Patients with hereditary alpha-tryptasemia (H alpha T) and symptoms of mast cell activation do not have elevated levels of mast cell urinary metabolites, suggesting that granule- and membrane-derived mediators may not play a role in driving symptoms in H alpha T.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Allergy
Didier G. Ebo, Leander P. De Puysseleyr, Athina L. Van Gasse, Jessy Elst, Marie-Line Van der Poorten, Margaretha A. Faber, Christel Mertens, Michel Van Houdt, Margo M. Hagendorens, Luc Sermeus, Joana Vitte, Michel Moise, Lene H. Garvey, Mariana C. Castells, Charles Tacquard, Paul-Michel Mertes, Lawrence B. Schwartz, Vito Sabato
Summary: Perioperative hypersensitivity reactions pose a challenge in clinical diagnosis. The study found that a consensus formula for detection of mast cell activation in POH was effective, and a baseline tryptase level higher than 8 ng/mL was associated with anaphylaxis occurrence.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Review
Biochemistry & Molecular Biology
Clayton Webster Jackson, Cristina Marie Pratt, Chase Preston Rupprecht, Debendra Pattanaik, Guha Krishnaswamy
Summary: Mast cells are derived from hematopoietic stem cell precursors and play a crucial role in allergic responses and various disorders. Some disorders are associated with specific genetic mutations, while others may be genetic disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Allergy
Theo Gulen, Andrea Teufelberger, Maria Ekoff, Christine Moller Westerberg, Katarina Lyberg, Sven-Erik Dahlen, Barbro Dahlen, Gunnar Nilsson
Summary: This study identified a group of potential biomarkers in plasma that could be used to predict patients with mastocytosis at increased risk of anaphylaxis. In addition to known markers, four novel proteins were discovered, providing important value in screening and identifying patients with this condition.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Matija Rijavec, Jezerka Inkret, Urska Bidovec-Stojkovic, Tanja Carli, Nina Frelih, Andreja Kukec, Peter Korosec, Mitja Kosnik
Summary: Hymenoptera venom-induced anaphylaxis is a common and potentially fatal allergic reaction, with mastocytosis being an important risk factor. Undiagnosed underlying clonal mast cell disorder (cMCD) was found in some cases of fatal anaphylaxis. Screening high-risk individuals for cMCD using molecular methods is crucial for proper management and prevention of unnecessary deaths.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Allergy
David Fuchs, Alex Kilbertus, Karin Kofler, Nikolas von Bubnoff, Khalid Shoumariyeh, Roberta Zanotti, Patrizia Bonadonna, Luigi Scaffidi, Michael Doubek, Hanneke Oude Elberink, Lambert F. R. Span, Olivier Hermine, Chiara Elena, Pietro Benvenuti, Akif Selim Yavuz, Knut Brockow, Alexander Zink, Elisabeth Aberer, Aleksandra Gorska, Jan Romantowski, Emir Hadzijusufovic, Anna Belloni Fortina, Francesca Caroppo, Cecelia Perkins, Anja Illerhaus, Jens Panse, Vladan Vucinic, Mohamad Jawhar, Vito Sabato, Massimo Triggiani, Roberta Parente, Anna Bergstrom, Christine Breynaert, Jason Gotlib, Andreas Reiter, Karin Hartmann, Marek Niedoszytko, Michel Arock, Hanneke C. Kluin-Nelemans, Wolfgang R. Sperr, Rosemarie Greul, Peter Valent
Summary: This study aimed to develop a risk score to predict the presence of systemic mastocytosis in adults with mastocytosis in the skin (MIS). By examining 1145 patients with MIS, a multivariate regression model was established, identifying the tryptase level, symptoms, and bone symptoms as independent predictors of SM. A 6-point risk score was developed and validated to predict the presence of SM in these patients.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Review
Pathology
Peter Valent, Cem Akin, Wolfgang R. Sperr, Hans-Peter Horny, Michel Arock, Dean D. Metcalfe, Stephen J. Galli
Summary: Mastocytosis is a group of heterogeneous neoplasms characterized by an increase and accumulation of clonal mast cells in various organ systems. It can present as cutaneous mastocytosis or systemic mastocytosis, and the latter is further divided into different variants based on histopathological and molecular features, clinical variables, and organ involvement. The oncogenic machinery triggered by mutant forms of KIT plays a key role in MC expansion and disease progression, and genetic background, somatic mutations, and comorbidities also contribute to the course and prognosis. This article provides an update on the genetics, etiology, and pathology of mastocytosis, focusing on diagnostic criteria and new treatment concepts.
ANNUAL REVIEW OF PATHOLOGY-MECHANISMS OF DISEASE
(2023)
Article
Allergy
Dinah Foer, Matthew Wien, Elizabeth W. Karlson, Wenyu Song, Joshua A. Boyce, Patrick J. Brennan
Summary: This study aimed to investigate patient-specific and laboratory characteristics associated with reactions to Mrgprx2-activating drugs. The study found that female sex, white race, asthma, chronic urticaria, and mastocytosis were associated with increased odds of a reaction. Patients with allergic disease had a higher rate of adverse drug reactions compared to patients without allergic disease, and elevated absolute eosinophil count was inversely associated with reactions, while elevated total IgE was not associated.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2023)
Article
Medical Laboratory Technology
Anne Tranberg Madsen, Helle Pilgaard Kristiansen, Anne Winther-Larsen
Summary: Serum tryptase is a tightly regulated biomarker with very low within-subject variation, no significant day-to-day variation, and only minor semidiurnal variation, making it suitable for monitoring purposes.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)