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Updated: May 3, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Case Report: A family history of peanut allergy and hereditary alpha-tryptasemia
Yannick Chantran1,2,3, Hélène Renaudin4, Michel Arock1,5
1Molecular Platform for the Analysis of cKIT Mutations and Other Gene Defects, Centre National de Référence des Mastocytoses, Saint-Antoine Hospital, DMU BioGeMH, AP-HP.Sorbonne University, Paris, France.
Context:
Hereditary alpha-tryptasemia (HαT) is associated with elevated basal serum tryptase (bST) and is associated with a higher risk of severe anaphylactic reactions in patients with clonal mast cell disorders or IgE-mediated Hymenoptera venom-induced anaphylaxis. The consequence of this genetic trait remains to be determined in other allergic diseases and food allergy in particular.
Objectives:
Here, we describe three cases of peanut allergy among siblings from a single family of four: two of them were associated with HαT, and the third one was associated with the tryptase wild-type genotype.
Methods:
TPSAB1/TPSB2 genotypes were determined by digital PCR. After the case description, we provided a review of the literature regarding bST levels and tryptase genotypes in anaphylaxis, with a particular focus on food allergy.
Results:
Compared to the sibling with the conventional tryptase genotype, the two siblings with HαT presented a lower peanut threshold at the initial oral food challenge, higher peanut skin prick test reactivity, higher levels of specific IgE to peanut, Ara h 2, and Ara h 6, and a lower IgG4/IgE ratio after 10 years of oral immunotherapy.
Conclusion:
The tryptase genotype and HαT status might modify the clinical presentation and biological features of food allergy.
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