Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.
Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.
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致命传染病是先天性免疫缺陷：细菌和遗传理论的综合。
DOI：
10.1146/annurev-pathol-031920-101429
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发表时间：
2021-01-24
期刊：
影响因子：
--
通讯作者：
Abel L
中科院分区：
文献类型：
--
作者：
Casanova JL;Abel L
19世纪末首次证明，人类死于发烧通常是由感染引起的。随着细菌理论的普及，它取代了旧的、未经证实的理论，即发烧死亡反映了个人甚至家庭体质的虚弱。20世纪之交出现了一个新的谜团，当时很明显，只有一小部分感染者死于几乎任何给定微生物的初次感染。经典遗传学研究逐渐表明，严重的传染病可能是由人类的遗传易感性引起的。在分子遗传学的支持下，这个想法在三个连续的、重叠的步骤中得到了支持。首先，从1985年起，许多罕见的先天性免疫错误被证明是孟德尔遗传的多发性、复发性感染的基础。其次，从1996年开始，少数罕见的家族性感染也被分离为孟德尔特征，但对其他感染具有显著抵抗力的人类被分子破译。第三，从2007年开始，越来越多的罕见或常见的散发性感染被证明是由单基因缺陷引起的，而不是孟德尔式的先天错误。迄今为止相互排斥的细菌和遗传学理论的综合现在正在酝酿之中。
It was first demonstrated in the late 19th century that human deaths from fever were typically due to infections. As the germ theory gained ground, it replaced the old, unproven theory that deaths from fever reflected a weak personal or even familial constitution. A new enigma emerged at the turn of the 20th century, when it became apparent that only a small proportion of infected individuals die from primary infections with almost any given microbe. Classical genetics studies gradually revealed that severe infectious diseases could be driven by human genetic predisposition. This idea gained ground with the support of molecular genetics, in three successive, overlapping steps. First, many rare inborn errors of immunity were shown, from 1985 onward, to underlie multiple, recurrent infections with Mendelian inheritance. Second, a handful of rare and familial infections also segregating as Mendelian traits but striking humans resistant to other infections were deciphered molecularly from 1996 onward. Third, a growing number of rare or common sporadic infections were shown to result from monogenic, but not Mendelian, inborn errors from 2007 onward. A synthesis of the hitherto mutually exclusive germ and genetic theories is now in view.
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影响因子：
15.3
作者：
Belkaya, Serkan;Michailidis, Eleftherios;Casanova, Jean-Laurent
通讯作者：
Casanova, Jean-Laurent
影响因子：
3.7
作者：
Boisson-Dupuis, Stephanie;El Baghdadi, Jamila;Casanova, Jean-Laurent
通讯作者：
Casanova, Jean-Laurent
影响因子：
7
作者：
Boisson-Dupuis S;Kong XF;Okada S;Cypowyj S;Puel A;Abel L;Casanova JL
通讯作者：
Casanova JL
影响因子：
16.8
作者：
Bourke CD;Berkley JA;Prendergast AJ
通讯作者：
Prendergast AJ
DOI：
10.1111/j.1749-6632.2010.05834.x
发表时间：
2010-01-01
期刊：
YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS
影响因子：
--
作者：
Alcais, Alexandre;Quintana-Murci, Lluis;Casanova, Jean-Laurent
通讯作者：
Casanova, Jean-Laurent