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Anaphylaxis and Mast Cell Disorders.

Theo Gülen1, Cem Akin2

  • 1Department of Respiratory Medicine and Allergy, Karolinska University Hospital, Huddinge; Department of Medicine Solna, Immunology and Allergy Unit, Karolinska Institutet and Karolinska University Hospital; Mastocytosis Centre Karolinska, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden.

Immunology and Allergy Clinics of North America
|November 26, 2021
PubMed
Summary
This summary is machine-generated.

Severe anaphylaxis is linked to mast cell disorders, potentially due to genetic factors like KIT D816V mutations or hereditary alpha-tryptasemia. This review explores mast cell activation mechanisms and classification.

Keywords:
AnaphylaxisD816 V mutationHereditary alpha-tryptasemiaMast cell activation syndromesMast cell hyperreactivityMastocytosisTryptase

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Area of Science:

  • Immunology
  • Genetics
  • Allergy

Background:

  • Severe anaphylaxis, particularly from insect stings, is strongly associated with mast cell (MC) disorders.
  • Intrinsic MC abnormalities, such as the KIT D816V mutation in mastocytosis and hereditary alpha-tryptasemia, are implicated in severe allergic reactions.

Purpose of the Study:

  • To evaluate mechanisms of severe mast cell activation.
  • To discuss differential diagnosis and symptoms of MC mediator release.
  • To propose a global classification for MC activation disorders.

Main Methods:

  • Literature review and synthesis of existing research on mast cell disorders and anaphylaxis.
  • Analysis of genetic factors and their role in mast cell activation.
  • Clinical case review for differential diagnosis and symptom presentation.

Main Results:

  • Established link between specific mast cell disorders and severe anaphylaxis.
  • Identified genetic predispositions (KIT D816V, hereditary alpha-tryptasemia) influencing anaphylaxis severity.
  • Detailed the spectrum of symptoms resulting from mast cell mediator release.

Conclusions:

  • Mast cell disorders significantly contribute to severe anaphylaxis.
  • Understanding MC activation pathways and genetic factors is crucial for diagnosis and management.
  • A unified classification system aids in recognizing and treating mast cell activation disorders.