ArticlePloS one2013
Familial occurrence of systemic mast cell activation disease.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 92 citations in OpenAlex.
- Sexual Dimorphism in Allergic and Mast Cell-Associated Diseases.Clinical reviews in allergy & immunology · 2026Review
- A Perspective on the Role of Metformin in Treating Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and Long COVID.ACS pharmacology & translational science · 2025Review
- Prevalence and treatment response of neuropsychiatric disorders in mast cell activation syndrome.Brain, behavior, & immunity - health · 2025Article
- Role of Mast Cells in Human Health and Disease: Controversies and Novel Therapies.International journal of molecular sciences · 2025Review
- Spectrum, Time Course, Stages, and a Proposal for the Diagnosis of Histamine Intolerance in General Practice: A Nonrandomized, Quasi-Experimental Study.Journal of clinical medicine · 2025Article
- Cardiovascular manifestations in mast cell activation disease: key insights for cardiologists and angiologists.Frontiers in cardiovascular medicine · 2025Review
- Imatinib and Trigger Avoidance for Mast Cell Activation Syndrome Presenting With Attacks of Abdominal Pain, Nausea, Vomiting, and Diarrhea.ACG case reports journal · 2024Article
- Breast Implant Illness May Be Rooted in Mast Cell Activation: A Case-Controlled Retrospective Analysis.Annals of surgery open : perspectives of surgical history, education, and clinical approaches · 2024Article
- A survey of the currently known mast cell mediators with potential relevance for therapy of mast cell-induced symptoms.Naunyn-Schmiedeberg's archives of pharmacology · 2023Review
- Neuropsychiatric Manifestations of Mast Cell Activation Syndrome and Response to Mast-Cell-Directed Treatment: A Case Series.Journal of personalized medicine · 2023Article
- Childbearing with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: A Large International Survey of Outcomes and Complications.International journal of environmental research and public health · 2023Article
- Cluster-Analytic Identification of Clinically Meaningful Subtypes in MCAS: The Relevance of Heat and Cold.Digestive diseases and sciences · 2023Article
- Mast Cell Activation Syndrome Update-A Dermatological Perspective.Journal of personalized medicine · 2023Review
- Article
- Efficacy and toxicity of hydroxyurea in mast cell activation syndrome patients refractory to standard medical therapy: retrospective case series.Naunyn-Schmiedeberg's archives of pharmacology · 2022Article
- Health-related quality of life and health literacy in patients with systemic mastocytosis and mast cell activation syndrome.Orphanet journal of rare diseases · 2022Article
- The Pathophysiology of Long COVID throughout the Renin-Angiotensin System.Molecules (Basel, Switzerland) · 2022Review
- Article
- Effects of Primary Mast Cell Disease on Hemostasis and Erythropoiesis.International journal of molecular sciences · 2021Review
- Mast Cells in the Skin: Defenders of Integrity or Offenders in Inflammation?International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Systemic mast cell activation disease (MCAD) comprises disorders characterized by an enhanced release of mast cell mediators accompanied by accumulation of dysfunctional mast cells. Demonstration of familial clustering would be an important step towards defining the genetic contribution to the risk of systemic MCAD. The present study aimed to quantify familial aggregation for MCAD and to investigate the variability of clinical and molecular findings (e.g. somatic mutations in KIT) among affected family members in three selected pedigrees. Our data suggest that systemic MCAD pedigrees include more systemic MCAD cases than would be expected by chance, i.e., compared with the prevalence of MCAD in the general population. The prevalence of MCAD suspected by symptom self-report in first-degree relatives of patients with MCAD amounted to approximately 46%, compared to prevalence in the general German population of about 17% (p<0.0001). In three families with a high familial loading of MCAD, the subtype of MCAD and the severity of mediator-related symptoms varied between family members. In addition, genetic alterations detected in KIT were variable, and included mutations at position 816 of the amino acid sequence. In conclusion, our data provide evidence for common familial occurrence of MCAD. Our findings observed in the three pedigrees together with recent reports in the literature suggest that, in familial cases (i.e., in the majority of MCAD), mutated disease-related operator and/or regulator genes could be responsible for the development of somatic mutations in KIT and other proteins important for the regulation of mast cell activity. Accordingly, the immunohistochemically different subtypes of MCAD (i.e. mast cell activation syndrome and systemic mastocytosis) should be more accurately regarded as varying presentations of a common generic root process of mast cell dysfunction, than as distinct diseases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.