Mastocytosis

Mastocytosis

Mastocytosis is a rare condition caused by an excess number of mast cells in the body's tissues.

Mast cells are an important part of the immune system and are involved in the allergic response. Mutations in the c-KIT gene can cause over activation of this response and people affected by mastocytosis are susceptible to itching, hives, and anaphylactic shock, caused by the release of histamine from mast cells.

Genetic alterations in the c-KIT gene have been identified in the abnormal mast cells in almost all adult-onset mastocytosis and approximately 80% of children in skin lesions, with D816V being the most common mutation.

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