Articles

NIH Video, scientists uncover genetic explanation for frustrating syndrome

Scientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms.Most, but not all, people who experience these diverse symptoms have elevated levels of tryptase

Elevated basal serum tryptase identifies a multisystem disorder

JJ Lyons et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nature Genetics DOI: 10.1038/ng.3696 (2016).

Transgenerational transmission of systemic mast cell activation disease-genetic and epigenetic features

Molderings GJ. Transgenerational transmission of systemic mast cell activation disease-genetic and epigenetic features. Transl Res. 2016 Aug;174:86-97

Dr L Afrin Presents on MCAS to the EDS community

A comprehensive presentation covering the history of MCAS as well as presentation, diagnosis and treatment

Pharmacological treatment options for mast cell activation

Molderings GJ, Haenisch B, Brettner S et al. Pharmacological treatment options for mast cell activation. Naunyn Schmiedebergs Arch Pharmacol. 2016 Jul;389(7):671-94

Successful treatment of mast cell activation syndrome with sunitinib

Afrin LB, Cichocki FM, Patel K et al. Successful treatment of mast cell activation syndrome with sunitinib. Eur J Haematol. 2015 Dec;95(6):595-7

Utility of Continuous Diphenhydramine Infusion in Severe Mast Cell Activation Syndrome

Lawrence B Afrin; Utility of Continuous Diphenhydramine Infusion in Severe Mast Cell Activation Syndrome; Blood 2015 126:5194

Utilities of Various Mast Cell Mediators in Diagnosing Mast Cell Activation Syndrome

Nicolas Zenker and Lawrence B Afrin,Utilities of Various Mast Cell Mediators in Diagnosing Mast Cell Activation Syndrome Blood 2015 126:5174

H1-antihistamines for primary mast cell activation syndromes: a systematic review

4 Nurmatov UB, Rhatigan E, Simons FE, Sheikh A. H1-antihistamines for primary mast cell activation syndromes: a systematic review. Allergy. 2015;70(9):1052-61.

Mast Cells, Mastocytosis, and Related Disorders

Theoharides TC, Valent P, Akin C. Mast Cells, Mastocytosis, and Related Disorders. N Engl J Med. 2015;373(2):163-72.

Mast cell activation disease: An underappreciated cause of neurologic and psychiatric symptoms and diseases.

Afrin LB, Pöhlau D, Raithel M et al. Mast cell activation disease: An underappreciated cause of neurologic and psychiatric symptoms and diseases. Brain Behav Immun. 2015 Nov;50:314-21.

Mast cell activation syndromes presenting as anaphylaxis

3 Akin C . Mast cell activation syndromes presenting as anaphylaxis. Immunol Allergy Clin North Am. 2015 May;35(2):277-85.

Determination of plasma heparin level improves identification of systemic mast cell activation disease.

Vysniauskaite M, Hertfelder HJ, Oldenburg J et al. Determination of plasma heparin level improves identification of systemic mast cell activation disease. PLoS One. 2015 Apr 24;10.4.

The genetic basis of mast cell activation disease - looking through a glass darkly

Molderings GJ. The genetic basis of mast cell activation disease - looking through a glass darkly. Crit Rev Oncol Hematol. 2015 Feb;93(2):75-89.

A New Disease Cluster: Mast Cell Activation Syndrome, Postural Orthostatic Tachycardia Syndrome, and Ehlers-Danlos Syndrome

Cheung I, Vadas P. A New Disease Cluster: Mast Cell Activation Syndrome, Postural Orthostatic Tachycardia Syndrome, and Ehlers-Danlos Syndrome. Journal of Allergy and Clinical Immunology. Volume 135, Issue 2, AB65.

Prof Theoharides, Tufts Medical Center - "My mystery symptoms and mast cells"

A discussion with patients around some of the more unusual triggers and symptoms of MCAS

Familial hypertryptasemia with associated mast cell activation syndrome

7 Mortier G, Valent P, Ebo D, et al. Familial hypertryptasemia with associated mast cell activation syndrome. J Allergy Clin Immunol. 2014 Dec;134(6):1448-1450.

Prostaglandin D2-supplemented “functional eicosanoid testing and typing” assay with peripheral blood leukocytes as a new tool in the diagnosis of systemic mast cell activation disease: an explorative diagnostic study

Ravi A, Butterfield J, Weiler CR. Mast cell activation syndrome: improved identification by combined determinations of serum tryptase and 24-hour urine 11β-prostaglandin2α. J Allergy Clin Immunol Pract. 2014 Nov-Dec;2(6):775-8.

Mast cell activation syndrome: improved identification by combined determinations of serum tryptase and 24-hour urine 11β-prostaglandin2α.

Ravi A, Butterfield J, Weiler CR. Mast cell activation syndrome: improved identification by combined determinations of serum tryptase and 24-hour urine 11β-prostaglandin2α. J Allergy Clin Immunol Pract. 2014 Nov-Dec;2(6):775-8.

Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities

Lyons JJ, Sun G, Stone KD, et al. Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities. J Allergy Clin Immunol. 2014 May;133(5):1471-4 .

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