Bustamante Jacinta, Zhang Shen-Ying, von Bernuth Horst, Abel Laurent, Casanova Jean-Laurent
Laboratory of Human Genetics of Infectious Diseases, Institut Nationale de la Santé et de la Recherche Médicale, INSERM U550, 75015 Paris, France.
Immunol Allergy Clin North Am. 2008 May;28(2):235-58, vii. doi: 10.1016/j.iac.2008.01.009.
The field of primary immunodeficiencies has expanded, thanks to the exploration of novel clinical phenotypes and their connection with morbid genotypes, and the subsequent exploration of new patients who have known primary immunodeficiency-defining clinical phenotypes and their connection with novel morbid genotypes. This two-way process is becoming increasingly active, particularly for patients who have infectious diseases in whom the underlying immunologic and genetic causes remain mostly unexplained. The authors review how the exploration of children who have clinical infectious diseases caused by mycobacteria, pneumococcus, and herpes simplex virus recently led to the description of three new groups of primary immunodeficiencies. These three examples justify the continuation of the genetic exploration of novel infectious phenotypes and novel patients who have infections. This challenging process will eventually reap its rewards, to the benefit of patients and their families.
由于对新的临床表型及其与致病基因型的关联进行了探索，以及随后对已知具有原发性免疫缺陷定义临床表型的新患者及其与新致病基因型的关联进行了探索，原发性免疫缺陷领域得以扩展。这个双向过程正变得越来越活跃，特别是对于那些患有传染病但其潜在免疫和遗传原因大多仍未得到解释的患者。作者回顾了对患有由分枝杆菌、肺炎球菌和单纯疱疹病毒引起的临床传染病的儿童的探索如何最近导致了三组新的原发性免疫缺陷的描述。这三个例子证明了对新的感染表型和患有感染的新患者进行基因探索的继续进行是合理的。这个具有挑战性的过程最终将获得回报，造福于患者及其家庭。
