Update on inborn errors of immunity

被引：5

作者：

Ijspeert, Hanna ^{[1
]}

Edwards, Emily S. J. ^{[4
,5
,6
]}

O'Hehir, Robyn E. ^{[4
,5
,6
]}

Dalm, Virgil A. S. H. ^{[2
,3
]}

van Zelm, Menno C. ^{[2
,4
,5
,6
]}

机构：

[1] Erasmus MC, Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands

[2] Erasmus MC, Univ Med Ctr, Dept Immunol, Dr Molewaterplein 40, NL-3015 GD Rotterdam, Netherlands

[3] Erasmus MC, Dept Internal Med, Div Allergy & Clin Immunol, Univ Med Ctr, Rotterdam, Netherlands

[4] Monash Univ, Sch Translat Med, Dept Immunol, Melbourne, Australia

[5] Alfred Hlth, Allergy Asthma & Clin Immunol, Melbourne, Australia

[6] Jeffrey Modell Ctr, Melbourne, Australia

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2025年 / 155卷 / 03期

关键词：

Inborn errors of immunity; diagnosis; newborn screening; hematopoietic stem cell transplantation; gene therapy; V(D)J recombination; STATE; JAK inhibitor; PI3K inhibitor; PRIMARY IMMUNODEFICIENCY DISEASES; RECEPTOR EXCISION CIRCLES; COVID-19; VACCINATION; GENE-THERAPY; GUIDELINES; INHIBITOR; MUTATIONS; DIAGNOSIS; VARIANTS; PATIENT;

D O I：

10.1016/j.jaci.2024.12.1075

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

Ever since the first description of an inherited immunodeficiency in 1952 in a boy with gammaglobulin deficiency, new insights have progressed rapidly in disorders that are now referred to as inborn errors of immunity. In a field where fundamental molecular biology, genetics, immune signaling, and clinical care are tightly intertwined, 2022-24 saw a multitude of advances. Here we report a selection of research updates with a main focus on (1) diagnosis and screening, (2) new genetic defects, (3) susceptibility to severe coronavirus disease 2019 infection and impact of vaccination, and (4) treatment. Importantly, new pathogenic insights more rapidly affect treatment outcomes, either through an earlier and more precise diagnosis or through implementation of novel, personalized treatment. The field is growing rapidly, so awareness, communication, and collaboration are key to improving treatment outcomes. (J Allergy Clin Immunol 2025;155:740-51.)

引用

页码：740 / 751

页数：12

共 155 条

[1] Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19 [J].

Abolhassani, Hassan ;

Delavari, Samaneh ;

Landegren, Nils ;

Shokri, Sima ;

Bastard, Paul ;

Du, Likun ;

Zuo, Fanglei ;

Hajebi, Reza ;

Abolnezhadian, Farhad ;

Iranparast, Sara ;

Modaresi, Mohammadreza ;

Vosughimotlagh, Ahmad ;

Salami, Fereshte ;

Aranda-Guillen, Maribel ;

Cobat, Aurelie ;

Marcotte, Harold ;

Zhang, Shen-Ying ;

Zhang, Qian ;

Rezaei, Nima ;

Casanova, Jean-Laurent ;

Kampe, Olle ;

Hammarstrom, Lennart ;

Pan-Hammarstrom, Qiang .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2022, 150 (05) :1059-1073

[2] Inborn errors of immunity: an expanding universe of disease and genetic architecture [J].

Akalu, Yemsratch T. ;

Bogunovic, Dusan .

NATURE REVIEWS GENETICS, 2024, 25 (03) :184-195

[3] An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years [J].

Alligon, Mickael ;

Mahlaoui, Nizar ;

Courteille, Virginie ;

Costes, Laurence ;

Afonso, Veronica ;

Randrianomenjanahary, Philippe ;

de Vergnes, Nathalie ;

Ranohavimparany, Anja ;

Vo, Duy ;

Hafsa, Ines ;

Bach, Perrine ;

Benoit, Vincent ;

Garcelon, Nicolas ;

Fischer, Alain .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2022, 149 (06) :2116-2125

[4] A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency [J].

Ammann, S. ;

Elling, R. ;

Gyrd-Hansen, M. ;

Dueckers, G. ;

Bredius, R. ;

Burns, S. O. ;

Edgar, J. D. M. ;

Worth, A. ;

Brandau, H. ;

Warnatz, K. ;

zur Stadt, U. ;

Hasselblatt, P. ;

Schwarz, K. ;

Ehl, S. ;

Speckmann, C. .

CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2014, 176 (03) :394-400

[5] Tuberculosis in otherwise healthy adults with inherited TNF deficiency [J].

Arias, Andres A. ;

Neehus, Anna-Lena ;

Ogishi, Masato ;

Meynier, Vincent ;

Krebs, Adam ;

Lazarov, Tomi ;

Lee, Angela M. ;

Arango-Franco, Carlos A. ;

Yang, Rui ;

Orrego, Julio ;

Corcini Berndt, Melissa ;

Rojas, Julian ;

Li, Hailun ;

Rinchai, Darawan ;

Erazo-Borras, Lucia ;

Han, Ji Eun ;

Pillay, Bethany ;

Ponsin, Khoren ;

Chaldebas, Matthieu ;

Philippot, Quentin ;

Bohlen, Jonathan ;

Rosain, Jeremie ;

Le Voyer, Tom ;

Janotte, Till ;

Amarajeeva, Krishnajina ;

Soudee, Camille ;

Brollo, Marion ;

Wiegmann, Katja ;

Marquant, Quentin ;

Seeleuthner, Yoann ;

Lee, Danyel ;

Laine, Candice ;

Kloos, Doreen ;

Bailey, Rasheed ;

Bastard, Paul ;

Keating, Narelle ;

Rapaport, Franck ;

Khan, Taushif ;

Moncada-Velez, Marcela ;

Camila Carmona, Maria ;

Obando, Catalina ;

Alvarez, Jesus ;

Carlos Catano, Juan ;

Martinez-Rosado, Larry Luber ;

Sanchez, Juan P. ;

Tejada-Giraldo, Manuela ;

L'Honneur, Anne-Sophie ;

Agudelo, Maria L. ;

Perez-Zapata, Lizet J. ;

Arboleda, Diana M. .

NATURE, 2024, 633 (8029) :417-+

[6] Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome [J].

Baghdassarian, Hratch ;

Blackstone, Sarah A. ;

Clay, Owen S. ;

Philips, Rachael ;

Matthiasardottir, Brynja ;

Nehrebecky, Michele ;

Hua, Vivian K. ;

McVicar, Rachael ;

Liu, Yang ;

Tucker, Suzanne M. ;

Randazzo, Davide ;

Deuitch, Natalie ;

Rosenzweig, Sofia ;

Mark, Adam ;

Sasik, Roman ;

Fisch, Kathleen M. ;

Pimpale Chavan, Pallavi ;

Eren, Elif ;

Watts, Norman R. ;

Ma, Chi A. ;

Gadina, Massimo ;

Schwartz, Daniella M. ;

Sanyal, Anwesha ;

Werner, Giffin ;

Murdock, David R. ;

Horita, Nobuyuki ;

Chowdhury, Shimul ;

Dimmock, David ;

Jepsen, Kristen ;

Remmers, Elaine F. ;

Goldbach-Mansky, Raphaela ;

Gahl, William A. ;

O'Shea, John J. ;

Milner, Joshua D. ;

Lewis, Nathan E. ;

Chang, Johanna ;

Kastner, Daniel L. ;

Torok, Kathryn ;

Oda, Hirotsugu ;

Putnam, Christopher D. ;

Broderick, Lori .

NEW ENGLAND JOURNAL OF MEDICINE, 2023, 388 (24) :2241-2252

[7] Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis [J].

Bal, Sevgi Kostel ;

Giuliani, Sarah ;

Block, Jana ;

Repiscak, Peter ;

Hafemeister, Christoph ;

Shahin, Tala ;

Kasap, Nurhan ;

Ransmayr, Bernhard ;

Miao, Yirun ;

van de Wetering, Cheryl ;

Frohne, Alexandra ;

Heredia, Raul Jimenez ;

Schuster, Michael ;

Zoghi, Samaneh ;

Hertlein, Vanessa ;

Thian, Marini ;

Bykov, Aleksandr ;

Babayeva, Royala ;

Eltan, Sevgi Bilgic ;

Karakoc-Aydiner, Elif ;

Shaw, Lisa E. ;

Chowdhury, Iftekhar ;

Varjosalo, Markku ;

Arguello, Rafael J. ;

Farlik, Matthias ;

Ozen, Ahmet ;

Serfling, Edgar ;

Dupre, Loic ;

Bock, Christoph ;

Halbritter, Florian ;

Hannich, J. Thomas ;

Castanon, Irinka ;

Kraakman, Michael J. ;

Baris, Safa ;

Boztug, Kaan .

BLOOD, 2023, 142 (09) :827-845

[8] Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study [J].

Barbaro, Michela ;

Ohlsson, Annika ;

Borte, Stephan ;

Jonsson, Susanne ;

Zetterstrom, Rolf H. ;

King, Jovanka ;

Winiarski, Jacek ;

von Dobeln, Ulrika ;

Hammarstrom, Lennart .

JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 (01) :51-60

[9] Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6 [J].

Baris, Safa ;

Benamar, Mehdi ;

Chen, Qian ;

Catak, Mehmet Cihangir ;

Martinez-Blanco, Monica ;

Wang, Muyun ;

Fong, Jason ;

Massaad, Michel J. ;

Sefer, Asena Pinar ;

Kara, Altan ;

Babayeva, Royala ;

Eltan, Sevgi Bilgic ;

Yucelten, Ayse Deniz ;

Bozkurtlar, Emine ;

Cinel, Leyla ;

Karakoc-Aydiner, Elif ;

Zheng, Yumei ;

Wu, Hao ;

Ozen, Ahmet ;

Schmitz-Abe, Klaus ;

Chatila, Talal A. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2023, 152 (01) :182-194.e7

[10] Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs [J].

Bastard, Paul ;

Vazquez, Sara ;

Liu, Jamin ;

Laurie, Matthew T. ;

Wang, Chung Yu ;

Gervais, Adrian ;

Le Voyer, Tom ;

Bizien, Lucy ;

Zamecnik, Colin ;

Philippot, Quentin ;

Rosain, Jeremie ;

Catherinot, Emilie ;

Willmore, Andrew ;

Mitchell, Anthea M. ;

Bair, Rebecca ;

Garcon, Pierre ;

Kenney, Heather ;

Fekkar, Arnaud ;

Salagianni, Maria ;

Poulakou, Garyphallia ;

Siouti, Eleni ;

Sahanic, Sabina ;

Tancevski, Ivan ;

Weiss, Gunter ;

Nagl, Laurenz ;

Manry, Jeremy ;

Duvlis, Sotirija ;

Arroyo-Sanchez, Daniel ;

Paz Artal, Estela ;

Rubio, Luis ;

Perani, Cristiano ;

Bezzi, Michela ;

Sottini, Alessandra ;

Quaresima, Virginia ;

Roussel, Lucie ;

Vinh, Donald C. ;

Felipe Reyes, Luis ;

Garzaro, Margaux ;

Hatipoglu, Nevin ;

Boutboul, David ;

Tandjaoui-Lambiotte, Yacine ;

Borghesi, Alessandro ;

Aliberti, Anna ;

Cassaniti, Irene ;

Venet, Fabienne ;

Monneret, Guillaume ;

Halwani, Rabih ;

Sharif-Askari, Narjes Saheb ;

Danielson, Jeffrey ;

Burrel, Sonia .

SCIENCE IMMUNOLOGY, 2023, 8 (90)

← 1 2 3 4 5 6 7 8 9 10 →