Hereditary Alpha Tryptasemia Genotyping and Associated Clinical Features

被引：133
作者：
Lyons, Jonathan J. [1 ]
机构：
[1] NIAID, Lab Allerg Dis, NIH, Bldg 10,Room 11N240 MSC 1889,10 Ctr Dr, Bethesda, MD 20892 USA
来源：
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA | 2018年 / 38卷 / 03期
关键词：
Mast cell activation; Hypertryptasemia; Autosomal dominant; Genotyping; BASAL SERUM TRYPTASE; HYMENOPTERA VENOM ALLERGY; STING REACTIONS; MASTOCYTOSIS; CELLS; LINE; ANAPHYLAXIS; SEVERITY; EFFICACY; DISEASE;
D O I：
10.1016/j.iac.2018.04.003
中图分类号：
R392 [医学免疫学];
学科分类号：
100102 ;
摘要：
Hereditary alpha tryptasemia is an autosomal dominant genetic trait caused by increased germline copies of TPSAB1 encoding alpha-tryptase. Individuals with this trait have elevated basal serum tryptase and may present with associated multisystem complaints. Both basal serum tryptase levels and severity of clinical symptoms display a gene-dose relationship with TPSAB1, whereby higher tryptase levels and greater symptom severity are correlated with increasing numbers of alpha-encoding TPSAB1. As the functional effects of increased basal serum tryptase and/or altered tryptase gene expression are elucidated, greater insights will be gained into the symptoms associated with hereditary alpha tryptasemia and their potential therapy.
引用
收藏
页码：483 / +
页数：15
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