Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
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DOI：
10.1007/s10875-022-01289-3
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发表时间：
2022-10
影响因子：
9.1
通讯作者：
Meyts I
中科院分区：
文献类型：
--
作者：
Tangye SG;Al-Herz W;Bousfiha A;Cunningham-Rundles C;Franco JL;Holland SM;Klein C;Morio T;Oksenhendler E;Picard C;Puel A;Puck J;Seppänen MRJ;Somech R;Su HC;Sullivan KE;Torgerson TR;Meyts I
我们报告了国际免疫学会联合会专家委员会编制的先天性免疫缺陷的最新分类。本报告记录了55种新型单基因缺陷的关键临床和实验室特征，以及1种由于自身抗体引起的表型，这些缺陷是自上次更新（2020年1月发布）以来发现的，或者是早期特征化的，但后来在后续研究中得到证实或扩展。虽然文献中已经报道了与免疫疾病相关的其他基因的变异，但本次更新仅包括委员会评估达到代表新型先天性免疫缺陷的必要阈值的基因。目前共有485种先天性免疫缺陷。这些发现人类免疫性疾病的遗传原因的进展继续显着进一步我们了解疾病发病机制的分子，细胞和免疫学机制，从而同时提高免疫学知识和改善患者的诊断和管理。本报告旨在为免疫学家和遗传学家提供一个资源，用于遗传性免疫疾病个体的分子诊断，以及单基因和相关人类免疫疾病的细胞和分子机制的科学解剖。在线版本包含补充材料，可通过10.1007/s10875-022-01289-3获得。
We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 55 novel monogenic gene defects, and 1 phenocopy due to autoantibodies, that have either been discovered since the previous update (published January 2020) or were characterized earlier but have since been confirmed or expanded in subsequent studies. While variants in additional genes associated with immune diseases have been reported in the literature, this update includes only those that the committee assessed that reached the necessary threshold to represent novel inborn errors of immunity. There are now a total of 485 inborn errors of immunity. These advances in discovering the genetic causes of human immune diseases continue to significantly further our understanding of molecular, cellular, and immunological mechanisms of disease pathogenesis, thereby simultaneously enhancing immunological knowledge and improving patient diagnosis and management. This report is designed to serve as a resource for immunologists and geneticists pursuing the molecular diagnosis of individuals with heritable immunological disorders and for the scientific dissection of cellular and molecular mechanisms underlying monogenic and related human immune diseases. The online version contains supplementary material available at 10.1007/s10875-022-01289-3.
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DOI：
10.1084/jem.20192275
发表时间：
2020-12-07
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Castro CN;Rosenzwajg M;Carapito R;Shahrooei M;Konantz M;Khan A;Miao Z;Groß M;Tranchant T;Radosavljevic M;Paul N;Stemmelen T;Pitoiset F;Hirschler A;Nespola B;Molitor A;Rolli V;Pichot A;Faletti LE;Rinaldi B;Friant S;Mednikov M;Karauzum H;Aman MJ;Carapito C;Lengerke C;Ziaee V;Eyaid W;Ehl S;Alroqi F;Parvaneh N;Bahram S
通讯作者：
Bahram S
危及生命的Covid-19患者中针对I型IFN的自身抗体。
DOI：
10.1126/science.abd4585
发表时间：
2020-10-23
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Bastard P;Rosen LB;Zhang Q;Michailidis E;Hoffmann HH;Zhang Y;Dorgham K;Philippot Q;Rosain J;Béziat V;Manry J;Shaw E;Haljasmägi L;Peterson P;Lorenzo L;Bizien L;Trouillet-Assant S;Dobbs K;de Jesus AA;Belot A;Kallaste A;Catherinot E;Tandjaoui-Lambiotte Y;Le Pen J;Kerner G;Bigio B;Seeleuthner Y;Yang R;Bolze A;Spaan AN;Delmonte OM;Abers MS;Aiuti A;Casari G;Lampasona V;Piemonti L;Ciceri F;Bilguvar K;Lifton RP;Vasse M;Smadja DM;Migaud M;Hadjadj J;Terrier B;Duffy D;Quintana-Murci L;van de Beek D;Roussel L;Vinh DC;Tangye SG;Haerynck F;Dalmau D;Martinez-Picado J;Brodin P;Nussenzweig MC;Boisson-Dupuis S;Rodríguez-Gallego C;Vogt G;Mogensen TH;Oler AJ;Gu J;Burbelo PD;Cohen JI;Biondi A;Bettini LR;D'Angio M;Bonfanti P;Rossignol P;Mayaux J;Rieux-Laucat F;Husebye ES;Fusco F;Ursini MV;Imberti L;Sottini A;Paghera S;Quiros-Roldan E;Rossi C;Castagnoli R;Montagna D;Licari A;Marseglia GL;Duval X;Ghosn J;HGID Lab;NIAID-USUHS Immune Response to COVID Group;COVID Clinicians;COVID-STORM Clinicians;Imagine COVID Group;French COVID Cohort Study Group;Milieu Intérieur Consortium;CoV-Contact Cohort;Amsterdam UMC Covid-19 Biobank;COVID Human Genetic Effort;Tsang JS;Goldbach-Mansky R;Kisand K;Lionakis MS;Puel A;Zhang SY;Holland SM;Gorochov G;Jouanguy E;Rice CM;Cobat A;Notarangelo LD;Abel L;Su HC;Casanova JL
通讯作者：
Casanova JL
影响因子：
24.8
作者：
Bainter W;Lougaris V;Wallace JG;Badran Y;Hoyos-Bachiloglu R;Peters Z;Wilkie H;Das M;Janssen E;Beano A;Farhat KB;Kam C;Bercich L;Incardona P;Villanacci V;Bondioni MP;Meini A;Baronio M;Abarzua P;Parolini S;Tabellini G;Maio S;Schmidt B;Goldsmith JD;Murphy G;Hollander G;Plebani A;Chou J;Geha RS
通讯作者：
Geha RS
影响因子：
16.6
作者：
Baxley RM;Leung W;Schmit MM;Matson JP;Yin L;Oram MK;Wang L;Taylor J;Hedberg J;Rogers CB;Harvey AJ;Basu D;Taylor JC;Pagnamenta AT;Dreau H;Craft J;Ormondroyd E;Watkins H;Hendrickson EA;Mace EM;Orange JS;Aihara H;Stewart GS;Blair E;Cook JG;Bielinsky AK
通讯作者：
Bielinsky AK
影响因子：
9.1
作者：
Bousfiha A;Jeddane L;Picard C;Ailal F;Bobby Gaspar H;Al-Herz W;Chatila T;Crow YJ;Cunningham-Rundles C;Etzioni A;Franco JL;Holland SM;Klein C;Morio T;Ochs HD;Oksenhendler E;Puck J;Tang MLK;Tangye SG;Torgerson TR;Casanova JL;Sullivan KE
通讯作者：
Sullivan KE