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Gerhard J. Molderings  Critical Reviews in Oncology / Hematology 

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Presentation on theme: "Gerhard J. Molderings  Critical Reviews in Oncology / Hematology "— Presentation transcript:

1 The genetic basis of mast cell activation disease - looking through a glass darkly 
Gerhard J. Molderings  Critical Reviews in Oncology / Hematology  Volume 93, Issue 2, Pages (February 2015) DOI: /j.critrevonc Copyright © 2014 Elsevier Ireland Ltd Terms and Conditions

2 Fig. 1 Central position of the mast cells at the intersection of innate and adaptive immunity. Mast cells act as: (i) effector cells, by receiving input from the immune cells (mast cells included) via cytokines and other signal molecules; and (ii) regulators of immune cells (mast cells included), through release of their mediators or exchange of signal molecules by direct physical cell contact. Critical Reviews in Oncology / Hematology  , 75-89DOI: ( /j.critrevonc ) Copyright © 2014 Elsevier Ireland Ltd Terms and Conditions

3 Fig. 2 Spectrum of systemic mast cell activation disease.
Critical Reviews in Oncology / Hematology  , 75-89DOI: ( /j.critrevonc ) Copyright © 2014 Elsevier Ireland Ltd Terms and Conditions

4 Fig. 3 Scheme summarizing genetic contribution to the development of MCAD. MCAD class is determined by the combination of the mutated genes in a given individual, i.e. SM, MCL, and MCAS do not represent different disorders but are varying presentations of a common basic genetic malfunction. If the mutations in a given individual include the KIT mutation D816X, the affected mast cells are morphologically fusiform, form mast cell clusters, and aberrantly express CD25, and the formation and release of tryptase is increased. These features are known as the WHO criteria for SM [7]. Critical Reviews in Oncology / Hematology  , 75-89DOI: ( /j.critrevonc ) Copyright © 2014 Elsevier Ireland Ltd Terms and Conditions


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