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
Paula Navarro-Navarro, Ivan Alvarez-Twose, Alba Perez-Pons, Ana Henriques, Andrea Mayado, Andres C. Garcia-Montero, Laura Sanchez-Munoz, Oscar Gonzalez-Lopez, Almudena Matito, Carolina Caldas, Maria Jara-Acevedo, Alberto Orfao
Summary: This study found a high correlation between the KITD816V mutation burden in blood and bone marrow, but a lower number of mutated cells in blood. In some cases, there was a discrepancy between the presence of mutated cells in bone marrow and the absence of mutated cells in blood. Purified myeloid cell populations in blood revealed the presence of mutated eosinophils, basophils, neutrophils, and/or monocytes in most patients. The presence of >= 3.5% KITD816V-mutated cells and an unstable mutation burden in blood and/or bone marrow were associated with a shorter progression-free survival.
Review
Medicine, General & Internal
Theo Gulen
Summary: This article provides a concise clinical update on biology, mast cell function, and disorders associated with pathologic activation of mast cells. It discusses the interrelated yet distinct conditions of anaphylaxis, mast cell activation syndrome, and mastocytosis within the spectrum of mast cell activation disorders. The key finding in all three conditions is pathologic mast cell activation. The article also highlights the main difficulties in diagnosing these puzzling disorders of mast cells in medical practice.
Article
Allergy
Benedetta Sordi, Fiorenza Vanderwert, Francesca Crupi, Francesca Gesullo, Roberta Zanotti, Patrizia Bonadonna, Lara Crosera, Chiara Elena, Nicolas Fiorelli, Jacqueline Ferrari, Federica Grifoni, Mariarita Sciume, Roberta Parente, Massimo Triggiani, Boaz Palterer, Valentina Mecheri, Fabio Almerigogna, Raffaella Santi, Lisa Di Medio, Maria Luisa Brandi, Maria Loredana Iorno, Isabella Ciardetti, Sara Bencini, Francesco Annunziato, Carmela Mannarelli, Lisa Pieri, Paola Guglielmelli, Francesco Mannelli, Alessandro M. Vannucchi
Summary: This study found that increased copy number variants of the TPSAB1 gene are associated with nonclonal elevated tryptasemia and mastocytosis. Patients with mastocytosis have a higher proportion of HaT+ cases, which have specific clinical characteristics and disease burdens. Therefore, knowledge of HaT status may be useful for personalized management of patients with mastocytosis.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Jan Romantowski, Aleksandra Gorska, Marek Niedoszytko, Theo Gulen, Marta Gruchala-Niedoszytko, Boguslaw Nedoszytko, Magdalena Lange, Knut Brockow, Michel Arock, Cem Akin, Peter Valent
Summary: MCAS and mastocytosis are two disorders related to mast cell activation, with the former characterized by massive systemic activation of mast cells and the latter by clonal accumulation of mast cells in various organ systems. Mast cells are crucial effector cells in allergic diseases, and proper diagnosis and management are essential for patients with mastocytosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(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)
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
Allyson Mateja, Qinlu Wang, Jack Chovanec, Jiwon Kim, Kenneth J. Wilson, Lawrence B. Schwartz, Sarah C. Glover, Melody C. Carter, Dean D. Metcalfe, Erica Brittain, Jonathan J. Lyons
Summary: Based on the variability of BST, an acute tryptase/BST ratio exceeding 1.685 is the optimized diagnostic rule for distinguishing baseline variability from anaphylaxis, improving specificity among individuals with H alpha T and ISM while maintaining high sensitivity.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
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
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)
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)
Article
Allergy
Laura Polivka, Julien Rossignol, Antoine Neuraz, Djiba Conde, Julie Agopian, Cecile Meni, Nicolas Garcelon, Patrice Dubreuil, Leila Maouche-Chretien, Smail Hadj-Rabia, Olivier Hermine, Christine Bodemer
Summary: The regression of cutaneous mastocytosis in pediatric patients is associated with congenital mastocytosis and the KIT D816V mutation. The worsening of MCASs over time is correlated with the persistence of skin lesions, but in 19% of patients with MCASs at baseline and CM regression, MCASs become more intense. Additional long-term follow-up in this setting is justified.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Review
Allergy
Vito Sabato, Moise Michel, Ulrich Blank, Didier G. Ebo, Joana Vitte
Summary: Mast cell activation syndrome and anaphylaxis result from pathological degranulation of mast cells, with the importance of standardized diagnostic criteria and personalized treatment approaches being crucial. Hereditary alpha-tryptasemia may be present in these conditions.
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Allergy
Matthew P. Giannetti, Cem Akin, Raied Hufdhi, Matthew J. Hamilton, Emily Weller, Bjorn van Anrooij, Jonathan J. Lyons, Jason L. Hornick, Geraldine Pinkus, Mariana Castells, Olga Pozdnyakova
Summary: Patients with MCAS-T exhibit unique morphologic and histologic features in bone marrow, including larger, hypogranular MCs located in paratrabecular and perivascular areas, associated with bone marrow eosinophilia. All patients available for tryptase genotyping were confirmed to have HaT, indicating that elevated tryptase levels in MCAS-T patients are caused by this genetic trait.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(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)