Allergy/Immunology, Perelman School of Medicine at University of Pennsylvania, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA.
Immunol Allergy Clin North Am. 2019 Feb;39(1):129-140. doi: 10.1016/j.iac.2018.08.009.
Since the first genes associated with primary immunodeficiency were described in the early 1990s, there has been an exponential increase the number of genes found to have pathologic variants in patients with symptoms of primary immunodeficiency. Genetic testing currently used clinically includes chromosomal microarray, Sanger sequencing, and next-generation sequencing techniques, including whole exome testing. With the knowledge of the underlying molecular pathways, biologic therapies have been used for treatment and efforts are underway to broaden the availability of gene therapy.
自 20 世纪 90 年代初首次描述与原发性免疫缺陷相关的基因以来，在有原发性免疫缺陷症状的患者中发现具有病理变异的基因数量呈指数级增长。目前临床上使用的遗传检测包括染色体微阵列、Sanger 测序和下一代测序技术，包括外显子组全测序。随着对潜在分子途径的了解，生物疗法已被用于治疗，并且正在努力扩大基因治疗的可用性。
