■遗传性α-色氨酸血症(HαT)与基础血清类胰蛋白酶(bST)升高有关,并且在克隆性肥大细胞疾病或IgE介导的膜翅目毒液引起的过敏反应患者中,严重过敏反应的风险更高。这种遗传特性的后果仍有待确定,特别是在其他过敏性疾病和食物过敏中。
■这里,我们描述了来自一个四口之家的兄弟姐妹中的三例花生过敏:其中两例与HαT有关,第三个与类胰蛋白酶野生型基因型有关。
■通过数字PCR确定TPSAB1/TPSB2基因型。在案例描述之后,我们提供了有关过敏反应中bST水平和类胰蛋白酶基因型的文献综述,特别关注食物过敏。
■与传统类胰蛋白酶基因型的兄弟姐妹相比,有HαT的两个兄弟姐妹在最初的口服食物挑战中呈现出较低的花生阈值,更高的花生皮点刺试验反应性,花生的特异性IgE水平较高,口服免疫治疗10年后,Arah2和Arah6,IgG4/IgE比值降低。
■类胰蛋白酶基因型和HαT状态可能改变食物过敏的临床表现和生物学特征。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: The tryptase genotype and HαT status might modify the clinical presentation and biological features of food allergy.