Research & Literature

Targeted ultradeep next-generation sequencing as a method for KIT D816V mutation analysis in mastocytosis.

Kristensen T, Broesby-Olsen S, Vestergaard H, et al.

European journal of haematology 2016; (96(4)):381-8 doi:10.1111/ejh.12601.

Impact of centralized evaluation of bone marrow histology in systemic mastocytosis.

Jawhar M, Schwaab J, Horny HP, et al.

European journal of clinical investigation 2016; (46(5)):392-7 doi:10.1111/eci.12607.

Reclassifying Anaphylaxis to Neuromuscular Blocking Agents Based on the Presumed Patho-Mechanism: IgE-Mediated, Pharmacological Adverse Reaction or "Innate Hypersensitivity"?

Spoerl D, Nigolian H, Czarnetzki C, Harr T

International journal of molecular sciences 2017; (18(6)) doi:10.3390/ijms18061223.

A distinct biomolecular profile identifies monoclonal mast cell disorders in patients with idiopathic anaphylaxis.

Carter MC, Desai A, Komarow HD, et al.

The Journal of allergy and clinical immunology 2018; (141(1)):180-188.e3 doi:10.1016/j.jaci.2017.05.036.

Beyond IgE-When Do IgE-Crosslinking and Effector Cell Activation Lead to Clinical Anaphylaxis?

Poulsen LK, Jensen BM, Esteban V, Garvey LH

Frontiers in immunology 2017; (8()):871 doi:10.3389/fimmu.2017.00871.

Prevalence of CD30 immunostaining in neoplastic mast cells: A retrospective immunohistochemical study.

Russano de Paiva Silva G, Tournier E, Sarian LO, et al.

Medicine 2018; (97(21)):e10642 doi:10.1097/MD.0000000000010642.

Management of a Parturient with Mast Cell Activation Syndrome: An Anesthesiologist's Experience.

Kumaraswami S, Farkas G

Case reports in anesthesiology 2018; (2018()):8920921 doi:10.1155/2018/8920921.

Gastrointestinal Involvement in Mast Cell Activation Disorders.

Hsieh FH

Immunology and allergy clinics of North America 2018; (38(3)):429-441 doi:10.1016/j.iac.2018.04.008.

A Review of the Dermatologic Symptoms of Idiopathic Mast Cell Activation Syndrome

Qureshi AA, Friedman AJ

Journal of drugs in dermatology : JDD 2019; (18(2)):162-168.

Single-cell analysis reveals the KIT D816V mutation in haematopoietic stem and progenitor cells in systemic mastocytosis.

Grootens J, Ungerstedt JS, Ekoff M, et al.

EBioMedicine 2019; (43()):150-158 doi:10.1016/j.ebiom.2019.03.089.

Recognition and Management of Medication Excipient Reactivity in Patients With Mast Cell Activation Syndrome.

Schofield JR, Afrin LB

The American journal of the medical sciences 2019; (357(6)):507-511 doi:10.1016/j.amjms.2019.03.005.

Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome.

Valent P, Bonadonna P, Hartmann K, et al.

International archives of allergy and immunology 2019; (180(1)):44-51 doi:10.1159/000501079.

Venom immunotherapy in patients with clonal mast cell disorders: IgG4 correlates with protection.

Jarkvist J, Salehi C, Akin C, Gülen T

Allergy 2020; (75(1)):169-177 doi:10.1111/all.13980.

Mast Cell Activation Syndrome: Tools for Diagnosis and Differential Diagnosis.

Weiler CR

The journal of allergy and clinical immunology. In practice 2020; (8(2)):498-506 doi:10.1016/j.jaip.2019.08.022.

Successful treatment of idiopathic mast cell activation syndrome with low-dose Omalizumab.

Berry R, Hollingsworth P, Lucas M

Clinical & translational immunology 2019; (8(10)):e01075 doi:10.1002/cti2.1075.

Symptoms of mast cell activation syndrome in functional gastrointestinal disorders.

Wilder-Smith CH, Drewes AM, Materna A, Olesen SS

Scandinavian journal of gastroenterology 2019; (54(11)):1322-1325 doi:10.1080/00365521.2019.1686059.

Mast Cell Activation: When the Whole Is Greater than the Sum of Its Parts.

Khokhar D, Akin C

The Medical clinics of North America 2020; (104(1)):177-187 doi:10.1016/j.mcna.2019.09.002.

How to diagnose mast cell activation syndrome: practical considerations.

Romantowski J, Górska A, Lange M, et al.

Polish archives of internal medicine 2020; (130(4)):317-323 doi:10.20452/pamw.15212.

[Mast cell activation syndrome. About a clinical case].

Cardona R, Muñoz-Ávila MA, Gómez-Henao C, et al.

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 2019; (66(4)):504-509 doi:10.29262/ram.v66i4.587.

Patient characteristics of suspected mast-cell activation syndrome with sinonasal obstruction: a single institution experience.

Kim JH, Xi S, Ference EH, et al.

International forum of allergy & rhinology 2020; (10(8)):996-1000 doi:10.1002/alr.22558.

[Tryptase: A practical guide for the physician].

Lobbes H, Reynaud Q, Mainbourg S, et al.

La Revue de medecine interne 2020; (41(11)):748-755 doi:10.1016/j.revmed.2020.06.006.

COVID-19 and Multisystem Inflammatory Syndrome, or is it Mast Cell Activation Syndrome?

Theoharides TC, Conti P

Journal of biological regulators and homeostatic agents 2020; (34(5)):1633-1636 doi:10.23812/20-EDIT3.

Clinical Approach to Mast Cell Activation Syndrome: A Practical Overview.

Matito A, Escribese MM, Longo N, et al.

Journal of investigational allergology & clinical immunology 2021; (31(6)):461-470 doi:10.18176/jiaci.0675.

Persistent Antiphospholipid Antibodies, Mast Cell Activation Syndrome, Postural Orthostatic Tachycardia Syndrome and Post-COVID Syndrome: 1 Year On.

Schofield JR

European journal of case reports in internal medicine 2021; (8(3)):002378 doi:10.12890/2021_002378.

Unlocking the Non-IgE-Mediated Pseudo-Allergic Reaction Puzzle with Mas-Related G-Protein Coupled Receptor Member X2 (MRGPRX2).

Kumar M, Duraisamy K, Chow BK

Cells 2021; (10(5)) doi:10.3390/cells10051033.

Depression, psychosocial correlates, and psychosocial resources in individuals with mast cell activation syndrome.

Nicoloro SantaBarbara J, Lobel M

Journal of health psychology 2022; (27(9)):2013-2026 doi:10.1177/13591053211014583.

Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1-RUNX1T1 transcripts.

Sasaki K, Tsujimoto S, Miyake M, et al.

British journal of haematology 2021; (194(2)):414-422 doi:10.1111/bjh.17569.

Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders.

Muñoz-González JI, García-Montero AC, Orfao A, Álvarez-Twose I

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2021; (127(4)):427-434 doi:10.1016/j.anai.2021.07.014.

Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature.

Zama D, Muratore E, Giannetti A, et al.

Frontiers in pediatrics 2021; (9()):716786 doi:10.3389/fped.2021.716786.

Mast cell disorders are associated with decreased cerebral blood flow and small fiber neuropathy.

Novak P, Giannetti MP, Weller E, et al.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022; (128(3)):299-306.e1 doi:10.1016/j.anai.2021.10.006.

Mastocytosis and Mast Cell Activation Disorders: Clearing the Air.

Jackson CW, Pratt CM, Rupprecht CP, et al.

International journal of molecular sciences 2021; (22(20)) doi:10.3390/ijms222011270.

Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.

Brock I, Prendergast W, Maitland A

American journal of medical genetics. Part C, Seminars in medical genetics 2021; (187(4)):473-481 doi:10.1002/ajmg.c.31940.

[Research progress of mast cell activation syndrome].

Ren HL, Yang YS, Sun JL

Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] 2021; (55(12)):1513-1517 doi:10.3760/cma.j.cn112150-20210728-00722.

[Idiopathic mast cell activation syndrome].

van Daele PLA, Hermans MAW, Oude Elberink JHNG, van Wijk RG

Nederlands tijdschrift voor geneeskunde 2022; (166()).

Idiopathic mast cell activation syndrome is more often suspected than diagnosed-A prospective real-life study.

Buttgereit T, Gu S, Carneiro-Leão L, et al.

Allergy 2022; (77(9)):2794-2802 doi:10.1111/all.15304.

Incorporating Tryptase Genotyping Into the Workup and Diagnosis of Mast Cell Diseases and Reactions.

Lyons JJ, Greiner G, Hoermann G, Metcalfe DD

The journal of allergy and clinical immunology. In practice 2022; (10(8)):1964-1973 doi:10.1016/j.jaip.2022.05.003.

Global Classification of Mast Cell Activation Disorders: An ICD-10-CM-Adjusted Proposal of the ECNM-AIM Consortium.

Valent P, Hartmann K, Bonadonna P, et al.

The journal of allergy and clinical immunology. In practice 2022; (10(8)):1941-1950 doi:10.1016/j.jaip.2022.05.007.

Mast cell activation syndrome-anesthetic challenges in two different clinical scenarios.

Lide B, Mcguire S, Liu H, Chandler C

Journal of biomedical research 2022; (36(6)):435-439 doi:10.7555/JBR.36.20220071.

Mast cell activation syndrome and the link with long COVID.

Arun S, Storan A, Myers B

British journal of hospital medicine (London, England : 2005) 2022; (83(7)):1-10 doi:10.12968/hmed.2022.0123.

Mastocytosis and related entities: a practical roadmap.

Beyens M, Elst J, van der Poorten ML, et al.

Acta clinica Belgica 2023; (78(4)):325-335 doi:10.1080/17843286.2022.2137631.

KIT Mutations and Other Genetic Defects in Mastocytosis: Implications for Disease Pathology and Targeted Therapies.

Chantran Y, Valent P, Arock M

Immunology and allergy clinics of North America 2023; (43(4)):651-664 doi:10.1016/j.iac.2023.04.008.

Tyrosine Kinase Inhibitors in Non-advanced Systemic Mastocytosis.

Akin C

Immunology and allergy clinics of North America 2023; (43(4)):743-750 doi:10.1016/j.iac.2023.05.001.

Dysautonomia, Hypermobility Spectrum Disorders and Mast Cell Activation Syndrome as Migraine Comorbidities.

Blitshteyn S

Current neurology and neuroscience reports 2023; (23(11)):769-776 doi:10.1007/s11910-023-01307-w.

A Puzzling Mast Cell Trilogy: Anaphylaxis, MCAS, and Mastocytosis.

Gülen T

Diagnostics (Basel, Switzerland) 2023; (13(21)) doi:10.3390/diagnostics13213307.

Neuropsychiatric Manifestations of Mast Cell Activation Syndrome and Response to Mast-Cell-Directed Treatment: A Case Series.

Weinstock LB, Nelson RM, Blitshteyn S

Journal of personalized medicine 2023; (13(11)) doi:10.3390/jpm13111562.

Review and Updates on Systemic Mastocytosis and Related Entities.

Li JY, Ryder CB, Zhang H, et al.

Cancers 2023; (15(23)) doi:10.3390/cancers15235626.

Using the Right Criteria for MCAS.

Gulen T

Current allergy and asthma reports 2024; (24(2)):39-51 doi:10.1007/s11882-024-01126-0.

Mast Cell Activation Syndrome and Gut Dysfunction: Diagnosis and Management.

Hamilton MJ

Current gastroenterology reports 2024; (26(4)):107-114 doi:10.1007/s11894-024-00924-w.

The Prevalence Of Osteoporosis Is Low in Adult Cutaneous Mastocytosis Patients.

Degboé Y, Severino-Freire M, Couture G, et al.

The journal of allergy and clinical immunology. In practice 2024; (12(5)):1306-1312 doi:10.1016/j.jaip.2024.02.021.

Imatinib and Trigger Avoidance for Mast Cell Activation Syndrome Presenting With Attacks of Abdominal Pain, Nausea, Vomiting, and Diarrhea.

Weinstock LB, Tenkhoff M, Gutovich J, Afrin LB

ACG case reports journal 2024; (11(6)):e01383 doi:10.14309/crj.0000000000001383.

Mast Cell Disorders and Hymenoptera Venom-Triggered Anaphylaxis: Evaluation and Management.

Boggs NA, Tanasi I, Hartmann K, et al.

The journal of allergy and clinical immunology. In practice 2025; (13(1)):40-48 doi:10.1016/j.jaip.2024.08.034.

Confirmed Systemic Mastocytosis in a Pediatric Patient With Widespread Cutaneous Symptoms.

Cahill JA, Suresh S, Livingston JR

Pediatrics 2025; doi:10.1542/peds.2024-067915.

Utility of tryptase genotyping in the screening, diagnosis, and management of systemic mastocytosis.

McMurray JC, Schornack BJ, Villar J, et al.

Frontiers in allergy 2025; (6()):1599358 doi:10.3389/falgy.2025.1599358.

French guidelines for the management of nonadvanced mastocytosis in adults.

Bulai Livideanu C, Barete S, Damaj G, et al.

Orphanet journal of rare diseases 2025; (20(1)):499 doi:10.1186/s13023-025-03764-7.

Autonomic symptom burden, comorbidities and quality of life in women with Hypermobility Spectrum Disorders and hypermobile Ehlers-Danlos syndrome.

Collins Hutchinson ML, Liang E, Fuster E, Blitshteyn S

Autonomic neuroscience : basic & clinical 2025; (262()):103356 doi:10.1016/j.autneu.2025.103356.

Chronic Anaphylaxis With Indolent Systemic Mastocytosis: A Case Report.

Worth S, George TI, Shaheen DJ, et al.

Case reports in hematology 2025; (2025()):9562195 doi:10.1155/crh/9562195.

Diagnosis and management of mast cell activation syndrome (MCAS) in Canada: a practical approach.

Lee E, Picard M

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2025; (21(1)):49 doi:10.1186/s13223-025-00998-9.

Diagnosis and Management of Patients With Mast Cell Activation Syndromes: Status 2026.

Akin C, Gülen T, Castells MC, et al.

The journal of allergy and clinical immunology. In practice 2026; (14(1)):19-28 doi:10.1016/j.jaip.2025.10.046.

Distinct clinical, laboratory, molecular, and pathologic features of systemic mastocytosis involving the gastrointestinal tract.

Chiu A, Viswanatha DS, He R, et al.

American journal of clinical pathology 2025; (164(6)):879-889 doi:10.1093/ajcp/aqaf112.

Prevalence of KIT D816V in anaphylaxis or systemic mast cell activation.

Hartmann K, Alvarez-Twose I, Bernstein JA, et al.

The Journal of allergy and clinical immunology 2026; (157(2)):409-418 doi:10.1016/j.jaci.2025.10.010.

Avapritinib improves cutaneous involvement in patients with indolent systemic mastocytosis: Results from the randomized, phase 2, interventional PIONEER study.

Siebenhaar F, Broesby-Olsen S, Castells M, et al.

Journal of the American Academy of Dermatology 2026; doi:10.1016/j.jaad.2026.02.025.

Recurrent Cyclic Vomiting and Gastroparesis-Like Symptoms in a Patient With Mast Cell Activation Syndrome (MCAS): A Case of Gastrointestinal-Predominant MCAS.

Salib M, Music A, Salib J, et al.

Cureus 2026; (18(2)):e103302 doi:10.7759/cureus.103302.