Immune tolerance breakdown in inborn errors of immunity: Paving the way to novel therapeutic approaches

被引:5
作者
Giardino, Giuliana [1 ,2 ,3 ,4 ,5 ,6 ,7 ,8 ,9 ,10 ,11 ]
Romano, Roberta [1 ]
Lougaris, Vassilios [2 ]
Castagnoli, Riccardo [3 ]
Cillo, Francesca [1 ]
Leonardi, Lucia [4 ]
La Torre, Francesco [5 ]
Soresina, Annarosa [6 ]
Federici, Silvia [7 ]
Cancrini, Caterina [8 ,9 ]
Pacillo, Lucia [8 ,9 ]
Toriello, Elisabetta [1 ]
Cinicola, Bianca Laura [4 ]
Corrente, Stefania [10 ]
Volpi, Stefano [11 ]
Marseglia, Gian Luigi [3 ]
Pignata, Claudio [1 ]
Cardinale, Fabio [5 ]
机构
[1] Univ Naples Federico II, Dept Translat Med Sci, Pediat Sect, Naples, Italy
[2] Univ Brescia & ASST Spedali Civili Brescia, Inst Mol Med A Nocivelli, Dept Clin & Expt Sci, Pediat Clin, Brescia, Italy
[3] Univ Pavia, Fdn IRCCS Policlin San Matteo, Dept Pediat, Pediat Clin, Pavia, Italy
[4] Sapienza Univ Rome, Dept Maternal Infantile & Urol Sci, Rome, Italy
[5] Univ Bari, Giovanni Pediat Hosp 23, Dept Pediat, Bari, Italy
[6] Univ Brescia, Pediat Clin, Unit Pediat Immunol, ASST Spedali Civili Brescia, Brescia, Italy
[7] Osped Pediatr Bambino Gesu, Div Rheumatol, IRCCS, Rome, Italy
[8] Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy
[9] IRCCS Bambino Gesu Childrens Hosp, Res Unit Primary Immunodeficiencies, Rome, Italy
[10] S Camillo Forlanini Hosp, Div Pediat, Rome, Italy
[11] IRCCS Ist Giannina Gaslini, Ctr Autoinflammatory Dis & Immunodeficiency, Univ Studi Genova, Genoa, Italy
关键词
Autoimmunity; Immunodysregulation; Inborn errors of immunity; Immune tolerance; T Reg; SYSTEMIC-LUPUS-ERYTHEMATOSUS; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; REGULATORY T-CELLS; 22Q11.2 DELETION SYNDROME; 3-KINASE DELTA SYNDROME; NATURAL IGM ANTIBODIES; NF-KAPPA-B; LRBA DEFICIENCY; THROMBOCYTOPENIC PURPURA; GENETIC SUSCEPTIBILITY;
D O I
10.1016/j.clim.2023.109302
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Up to 25% of the patients with inborn errors of immunity (IEI) also exhibit immunodysregulatory features. The association of immune dysregulation and immunodeficiency may be explained by different mechanisms. The understanding of mechanisms underlying immune dysregulation in IEI has paved the way for the development of targeted treatments. In this review article, we will summarize the mechanisms of immune tolerance breakdown and the targeted therapeutic approaches to immune dysregulation in IEI.
引用
收藏
页数:16
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共 187 条
[1]  
Abolhassani H, 2015, J INVEST ALLERG CLIN, V25, P112
[2]   Thymic Epithelial Cells [J].
Abramson, Jakub ;
Anderson, Graham .
ANNUAL REVIEW OF IMMUNOLOGY, VOL 35, 2017, 35 :85-118
[3]  
Al-Mayouf SM, 2017, CLIN EXP RHEUMATOL, V35, P327
[4]  
Alangari A., J Allergy Clin Immunol
[5]   SOCS1 is a critical inhibitor of interferon γ signaling and prevents the potentially fatal neonatal actions of this cytokine [J].
Alexander, WS ;
Starr, R ;
Fenner, JE ;
Scott, GL ;
Handman, E ;
Sprigg, NS ;
Corbin, JE ;
Cornish, AL ;
Darwiche, R ;
Owczarek, CM ;
Kay, TWH ;
Nicola, NA ;
Hertzog, PJ ;
Metcalf, D ;
Hilton, DJ .
CELL, 1999, 98 (05) :597-608
[6]  
Alidjinou EK, 2014, DISCOV MED, V18, P273
[7]   Severe Combined Immunodeficiences: New and Old Scenarios [J].
Aloj, Giuseppina ;
Giardino, Giuliana ;
Valentino, Leopoldo ;
Maio, Filomena ;
Gallo, Vera ;
Esposito, Tiziana ;
Naddei, Roberta ;
Cirillo, Emilia ;
Pignata, Claudio .
INTERNATIONAL REVIEWS OF IMMUNOLOGY, 2012, 31 (01) :43-65
[8]   Autoreactive antibodies control blood glucose by regulating insulin homeostasis [J].
Amendt, Timm ;
Allies, Gabriele ;
Nicolo, Antonella ;
El Ayoubi, Omar ;
Young, Marc ;
Roszer, Tamas ;
Setz, Corinna S. ;
Warnatz, Klaus ;
Jumaa, Hassan .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2022, 119 (06)
[9]   The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias [J].
不详 .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (10) :2121-2127
[10]   Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling [J].
Arjunaraja, Swadhinya ;
Snow, Andrew L. .
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 15 (06) :533-538