Mast cell disease

Common Name(s)

Mast cell disease, Mastocytosis

Mastocytosis is a disorder that can occur in both children and adults. It is caused by the presence of too many mast cells in the body. Mast cells contain substances such as histamine that regulate allergic reactions. Signs and symptoms of mastocytosis may include musculoskeletal pain, abdominal discomfort, nausea, vomiting, ulcers, diarrhea, and skin lesions. Treatment may include medications such as antihistamines (to prevent the effect of mast cell histamine) and anticholinergics (to relieve intestinal cramping).

There are two broad categories of mastocytosis, cutaneous and systemic. Cutaneous mastocytosis only affects the skin and is usually diagnosed in children. Systemic mastocytosis affects more than one part of the body and is usually diagnosed in adults. GARD provides additional information on cutaneous mastocytosis and systemic mastocytosis.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mast cell disease" for support, advocacy or research.

The Mastocytosis Society, Inc

The Mastocytosis Society is a 501(c)3 nonprofit organization dedicated to supporting patients affected by Mastocytosis or Mast Cell Activation Disorders as well as their families, caregivers, and physicians through research, education, and advocacy.

Last Updated: 20 Nov 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mast cell disease" for support, advocacy or research.

The Mastocytosis Society, Inc

The Mastocytosis Society is a 501(c)3 nonprofit organization dedicated to supporting patients affected by Mastocytosis or Mast Cell Activation Disorders as well as their families, caregivers, and physicians through research, education, and advocacy.

http://www.TMSforacure.org

Last Updated: 20 Nov 2012

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mast cell disease" returned 29 free, full-text research articles on human participants. First 3 results:

Mast cell activation syndrome as a significant comorbidity in sickle cell disease.
 

Author(s): Lawrence B Afrin

Journal: Am. J. Med. Sci.. 2014 Dec;348(6):460-4.

 

Some sickle cell anemia (SCA) patients suffer significantly worse phenotypes than others. Causes of such disparities are incompletely understood. Comorbid chronic inflammation likely is a factor. Recently, mast cell (MC) activation (creating an inflammatory state) was found to be ...

Last Updated: 21 Nov 2014

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Bone marrow stroma CD40 expression correlates with inflammatory mast cell infiltration and disease progression in splenic marginal zone lymphoma.
 

Author(s): Giovanni Franco, Carla Guarnotta, Barbara Frossi, Pier Paolo Piccaluga, Emanuela Boveri, Alessandro Gulino, Fabio Fuligni, Alice Rigoni, Rossana Porcasi, Salvatore Buffa, Elena Betto, Ada Maria Florena, Vito Franco, Emilio Iannitto, Luca Arcaini, Stefano Aldo Pileri, Carlo Pucillo, Mario Paolo Colombo, Sabina Sangaletti, Claudio Tripodo

Journal: Blood. 2014 Mar;123(12):1836-49.

 

Splenic marginal zone lymphoma (SMZL) is a mature B-cell neoplasm characterized by rather indolent clinical course. However, nearly one third of patients experience a rapidly progressive disease with a dismal outcome. Despite the characterization of clone genetics and the recognition ...

Last Updated: 21 Mar 2014

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Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation.
 

Author(s): Andrea M Siegel, Kelly D Stone, Glenn Cruse, Monica G Lawrence, Ana Olivera, Mi-yeon Jung, John S Barber, Alexandra F Freeman, Steven M Holland, Michelle O'Brien, Nina Jones, Celeste G Nelson, Laura B Wisch, Heidi H Kong, Avanti Desai, Orly Farber, Alasdair M Gilfillan, Juan Rivera, Joshua D Milner

Journal: J. Allergy Clin. Immunol.. 2013 Dec;132(6):1388-96.

 

Severe atopic conditions associated with elevated serum IgE are heterogeneous with few known causes. Nearly every patient with autosomal-dominant hyper-IgE syndrome (AD-HIES) due to signal transducer and activator of transcription 3 (STAT3) mutations has a history of eczematous dermatitis ...

Last Updated: 29 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mast cell disease" returned 8 free, full-text review articles on human participants. First 3 results:

Eosinophilia in mast cell disease.
 

Author(s): Anna Kovalszki, Peter F Weller

Journal: Immunol Allergy Clin North Am. 2014 May;34(2):357-64.

 

Eosinophils and mast cells coexist in clonal and nonclonal disorders. The interplay between these cells is complex and not fully understood. Discussed are both allergic/nonclonal disorders in which both cell types are increased in number are likely to play a role in pathogenesis and ...

Last Updated: 21 Apr 2014

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Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.
 

Author(s): Britta Haenisch, Markus M Nöthen, Gerhard J Molderings

Journal: Immunology. 2012 Nov;137(3):197-205.

 

Despite increasing understanding of its pathophysiology, the aetiology of systemic mast cell activation disease (MCAD) remains largely unknown. Research has shown that somatic mutations in kinases are necessary for the establishment of a clonal mast cell population, in particular ...

Last Updated: 2 Oct 2012

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Regulation of mast cell responses in health and disease.
 

Author(s): Alasdair M Gilfillan, Michael A Beaven

Journal: Crit. Rev. Immunol.. 2011 ;31(6):475-529.

 

Mast cells are multifunctional cells that initiate not only IgE-dependent allergic diseases but also play a fundamental role in innate and adaptive immune responses to microbial infection. They are also thought to play a role in angiogenesis, tissue remodeling, wound healing, and ...

Last Updated: 10 Feb 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Patient-Reported Outcome Questionnaire for Systemic Mastocytosis
 

Status: Recruiting

Condition Summary: Aggressive Systemic Mastocytosis (ASM); Systemic Mastocytosis With Associated Clonal Hematological Non-mast Cell Lineage Disease (SM-AHNMD); Mast Cell Leukemia (MCL); Smoldering Systemic Mastocytosis (SSM); Indolent Systemic Mastocytosis (ISM) [ISM Subgroup Fully Recruited]

 

Last Updated: 2 Mar 2015

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A Phase 3 Study to Compare Efficacy and Safety of Masitinib to Placebo in the Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap
 

Status: Recruiting

Condition Summary: Smouldering Systemic Mastocytosis; Indolent Systemic Mastocytosis; Cutaneous Mastocytosis With Handicap; Mastocytosis

 

Last Updated: 25 Sep 2012

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Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis
 

Status: Recruiting

Condition Summary: Aggressive Systemic Mastocytosis; Mast Cell Leukemia; Systemic Mastocytosis; Associated Clonal Hematological Non-Mast-Cell Lineage Disease

 

Last Updated: 8 Apr 2015

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