Severe infectious diseases of childhood as monogenic inborn errors of immunity

被引:152
作者
Casanova, Jean-Laurent [1 ,2 ,3 ,4 ,5 ]
机构
[1] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA
[2] Howard Hughes Med Inst, New York, NY 10065 USA
[3] Necker Hosp Sick Children, INSERM, U1163, Lab Human Genet Infect Dis,Necker Branch, F-75015 Paris, France
[4] Paris Descartes Univ, Imagine Inst, F-75015 Paris, France
[5] Necker Hosp Sick Children, AP HP, Pediat Hematol & Immunol Unit, F-75015 Paris, France
关键词
human genetics; immunology; infectious diseases; pediatrics; primary immunodeficiency; CHRONIC MUCOCUTANEOUS CANDIDIASIS; PRIMARY IMMUNODEFICIENCY DISEASES; ANHIDROTIC ECTODERMAL DYSPLASIA; PYOGENIC BACTERIAL-INFECTIONS; HERPES-SIMPLEX ENCEPHALITIS; INHERITED CARD9 DEFICIENCY; COMPLEMENT FACTOR-D; INTERFERON-GAMMA; CLINICAL-FEATURES; GENETIC-BASIS;
D O I
10.1073/pnas.1521651112
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward. In particular, it stresses and explains the importance of the recently described monogenic inborn errors of immunity underlying resistance or susceptibility to specific infections. The monogenic component of the genetic theory provides a plausible explanation for the occurrence of severe infectious diseases during primary infection. Over the last 20 y, increasing numbers of life-threatening infectious diseases striking otherwise healthy children, adolescents, and even young adults have been attributed to single-gene inborn errors of immunity. These studies were inspired by seminal but neglected findings in plant and animal infections. Infectious diseases typically manifest as sporadic traits because human genotypes often display incomplete penetrance (most genetically predisposed individuals remain healthy) and variable expressivity (different infections can be allelic at the same locus). Infectious diseases of childhood, once thought to be archetypal environmental diseases, actually may be among the most genetically determined conditions of mankind. This nascent and testable notion has interesting medical and biological implications.
引用
收藏
页码:E7128 / E7137
页数:10
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