The lung in inborn errors of immunity: From clinical disease patterns to molecular pathogenesis.
The lung in inborn errors of immunity: From clinical disease patterns to molecular pathogenesis.
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DOI：
10.1016/j.jaci.2022.08.024
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发表时间：
2022-12
影响因子：
14.2
通讯作者：
Sullivan, Kathleen E.
中科院分区：
文献类型：
--
作者：
Gutierrez, Maria J.;Nino, Gustavo;Sun, Di;Restrepo-Gualteros, Sonia;Sadreameli, Sarah C.;Fiorino, Elizabeth K.;Wu, Eveline;Vece, Timothy;Hagood, James S.;Maglione, Paul J.;Kurland, Geoffrey;Koumbourlis, Anastassios;Sullivan, Kathleen E.
关键词：
肺除了是重要的气体交换器官外，还是持续暴露于外界环境的重要免疫器官。损害免疫功能的遗传缺陷，称为先天性免疫缺陷 (IEI)，通常以肺部疾病为首发和/或主要表现。 IEI 中常见的肺部疾病类型包括感染性并发症和多种弥漫性间质性肺疾病。尽管 IEI 的肺损伤历来被归因于反复感染，但现在越来越多地认识到潜在可靶向的自身免疫和炎症途径的贡献。本文提供了基于肺部影像学和呼吸道表现识别 IEI 中不同肺部疾病模式的实用指南，并将这些临床信息与 IEI 中疾病的分子机制和诊断评估相结合。我们涵盖整个 IEI 谱系，包括单基因自身免疫和自身炎症的免疫缺陷和免疫失调，以及最近描述的伴有肺部表现的 IEI。尽管 IEI 的肺部表现与所有年龄组都高度相关，但特别强调儿童群体，因为最初的表现通常发生在儿童时期。我们还强调了基因检测在涉及肺部的 IEI 诊断中的关键作用，以及建立多学科团队对这些罕见但可能危及生命的疾病进行具有挑战性的评估的迫切需要。
In addition to being a vital organ for gas exchange, the lung is a crucial immune organ continuously exposed to the external environment. Genetic defects that impair immune function, called inborn errors of immunity (IEI), often have lung disease as the initial and/or primary manifestation. Common types of lung disease seen in IEI include infectious complications and a diverse group of diffuse interstitial lung diseases. Although lung damage in IEI has been historically ascribed to recurrent infections, contributions from potentially targetable autoimmune and inflammatory pathways are now increasingly recognized. This article provides a practical guide to identifying the diverse pulmonary disease patterns in IEI based on lung imaging and respiratory manifestations, and integrates this clinical information with molecular mechanisms of disease and diagnostic assessments in IEI. We cover the entire IEI spectrum, including immunodeficiencies and immune dysregulation with monogenic autoimmunity and autoinflammation, as well as recently described IEI with pulmonary manifestations. Although the pulmonary manifestations of IEI are highly relevant for all age groups, special emphasis is placed on the pediatric population, because initial presentations often occur during childhood. We also highlight the pivotal role of genetic testing in the diagnosis of IEI involving the lungs and the critical need to develop multidisciplinary teams for the challenging evaluation of these rare but potentially life-threatening disorders.
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影响因子：
9.1
作者：
Bjelac, Jaclyn A.;Yonkof, Jennifer R.;Fernandez, James
通讯作者：
Fernandez, James
影响因子：
7.3
作者：
Gutierrez MJ;Gilson J;Zacharias J;Ishmael F;Bingham CA
通讯作者：
Bingham CA
DOI：
10.1126/science.aaa1578
发表时间：
2015-04-24
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Ciancanelli MJ;Huang SX;Luthra P;Garner H;Itan Y;Volpi S;Lafaille FG;Trouillet C;Schmolke M;Albrecht RA;Israelsson E;Lim HK;Casadio M;Hermesh T;Lorenzo L;Leung LW;Pedergnana V;Boisson B;Okada S;Picard C;Ringuier B;Troussier F;Chaussabel D;Abel L;Pellier I;Notarangelo LD;García-Sastre A;Basler CF;Geissmann F;Zhang SY;Snoeck HW;Casanova JL
通讯作者：
Casanova JL
DOI：
10.1084/jem.20191804
发表时间：
2020-06-01
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Béziat V;Tavernier SJ;Chen YH;Ma CS;Materna M;Laurence A;Staal J;Aschenbrenner D;Roels L;Worley L;Claes K;Gartner L;Kohn LA;De Bruyne M;Schmitz-Abe K;Charbonnier LM;Keles S;Nammour J;Vladikine N;Maglorius Renkilaraj MRL;Seeleuthner Y;Migaud M;Rosain J;Jeljeli M;Boisson B;Van Braeckel E;Rosenfeld JA;Dai H;Burrage LC;Murdock DR;Lambrecht BN;Avettand-Fenoel V;Vogel TP;Undiagnosed Diseases Network;Esther CR;Haskologlu S;Dogu F;Ciznar P;Boutboul D;Ouachée-Chardin M;Amourette J;Lebras MN;Gauvain C;Tcherakian C;Ikinciogullari A;Beyaert R;Abel L;Milner JD;Grimbacher B;Couderc LJ;Butte MJ;Freeman AF;Catherinot É;Fieschi C;Chatila TA;Tangye SG;Uhlig HH;Haerynck F;Casanova JL;Puel A
通讯作者：
Puel A
影响因子：
2.6
作者：
Bergerson, Jenna R. E.;Freeman, Alexandra F.
通讯作者：
Freeman, Alexandra F.