Diagnostic Challenges in Patients with Inborn Errors of Immunity with Different Manifestations of Immune Dysregulation

被引：26

作者：

Pieniawska-Smiech, Karolina ^{[1
,2
]}

Pasternak, Gerard ^{[2
,3
]}

Lewandowicz-Uszynska, Aleksandra ^{[2
,3
]}

Jutel, Marek ^{[1
,4
]}

机构：

[1] Wroclaw Med Univ, Dept Clin Immunol, PL-50368 Wroclaw, Poland

[2] Prov Hosp J Gromkowski, Dept Clin Immunol & Paediat, PL-51149 Wroclaw, Poland

[3] Wroclaw Med Univ, Dept & Clin Paediat Immunol & Rheumatol Dev Age 3, PL-50367 Wroclaw, Poland

[4] ALL MED Med Res Inst, PL-53201 Wroclaw, Poland

来源：

JOURNAL OF CLINICAL MEDICINE | 2022年 / 11卷 / 14期

关键词：

allergy; autoimmunity; autoimmune lymphoproliferative syndrome; inborn errors of immunity; lymphoproliferation; malignancy; primary immunodeficiency; COMMON VARIABLE IMMUNODEFICIENCY; NON-HODGKIN-LYMPHOMA; ALDRICH-SYNDROME PROTEIN; LYMPHOPROLIFERATIVE SYNDROME; IGA DEFICIENCY; ANTIBODY DEFICIENCY; DNA-REPAIR; HYPER-IGE; IMMUNOGLOBULIN-E; NATURAL-HISTORY;

D O I：

10.3390/jcm11144220

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Inborn errors of immunity (IEI), formerly known as primary immunodeficiency disorders (PIDs), are inherited disorders caused by damaging germline variants in single genes, which result in increased susceptibility to infections and in allergic, autoimmune, autoinflammatory, nonmalignant lymphoproliferative, and neoplastic conditions. Along with well-known warning signs of PID, attention should be paid to signs of immune dysregulation, which seem to be equally important to susceptibility to infection in defining IEI. The modern diagnostics of IEI offer a variety of approaches but with some problems. The aim of this review is to discuss the diagnostic challenges in IEI patients in the context of an immune dysregulation background.

引用

页数：25

共 150 条

[1]

Abolhassani H, 2013, J INVEST ALLERG CLIN, V23, P323

[2] Impaired in vitro regulatory T cell function associated with Wiskott-Aldrich syndrome [J].

Adriani, Marsilio ;

Aoki, Joseph ;

Horai, Reiko ;

Thornton, Angela M. ;

Konno, Akihiro ;

Kirby, Martha ;

Anderson, Stacie M. ;

Siegel, Richard M. ;

Candotti, Fabio ;

Schwartzberg, Pamela L. .

CLINICAL IMMUNOLOGY, 2007, 124 (01) :41-48

[3] IgA Deficiency: Correlation Between Clinical and Immunological Phenotypes [J].

Aghamohammadi, Asghar ;

Cheraghi, Taher ;

Gharagozlou, Mohammad ;

Movahedi, Masoud ;

Rezaei, Nima ;

Yeganeh, Mehdi ;

Parvaneh, Nima ;

Abolhassani, Hassan ;

Pourpak, Zahra ;

Moin, Mostafa .

JOURNAL OF CLINICAL IMMUNOLOGY, 2009, 29 (01) :130-136

[4] Allergic asthma in patients with common variable immunodeficiency [J].

Agondi, R. C. ;

Barros, M. T. ;

Rizzo, L. V. ;

Kalil, J. ;

Giavina-Bianchi, P. .

ALLERGY, 2010, 65 (04) :510-515

[5] Can patients with common variable immunodeficiency have allergic rhinitis? [J].

Agondi, Rosana C. ;

Barros, Myrthes T. ;

Kokron, Cristina M. ;

Cohon, Andrea ;

Oliveira, Ana K. B. ;

Kalil, Jorge ;

Giavina-Bianchi, Pedro .

AMERICAN JOURNAL OF RHINOLOGY & ALLERGY, 2013, 27 (02) :79-83

[6] Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation [J].

Alroqi, Fayhan J. ;

Charbonnier, Louis-Marie ;

Baris, Safa ;

Kiykim, Ayca ;

Chou, Janet ;

Platt, Craig D. ;

Algassim, Abdulrahman ;

Keles, Sevgi ;

Al Saud, Bandar K. ;

Alkuraya, Fowzan S. ;

Jordan, Michael ;

Geha, Raif S. ;

Chatila, Talal A. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2018, 141 (03) :1050-+

[7] Primary immunodeficiency and autoimmunity: A comprehensive review [J].

Amaya-Uribe, Laura ;

Rojas, Manuel ;

Azizi, Gholamreza ;

Anaya, Juan-Manuel ;

Gershwin, M. Eric .

JOURNAL OF AUTOIMMUNITY, 2019, 99 :52-72

[8]

[Anonymous], Laboratory Tests

[9] IgE allergy diagnostics and other relevant tests in allergy, a World Allergy Organization position paper [J].

Ansotegui, Ignacio J. ;

Melioli, Giovanni ;

Canonica, Giorgio Walter ;

Caraballo, Luis ;

Villa, Elisa ;

Ebisawa, Motohiro ;

Passalacqua, Giovanni ;

Savi, Eleonora ;

Ebo, Didier ;

Maximiliano Gomez, R. ;

Luengo Sanchez, Olga ;

Oppenheimer, John J. ;

Jensen-Jarolim, Erika ;

Fischer, David A. ;

Haahtela, Tari ;

Antila, Martti ;

Bousquet, Jean J. ;

Cardona, Victoria ;

Chiang, Wen Chin ;

Demoly, Pascal M. ;

DuBuske, Lawrence M. ;

Ferrer Puga, Marta ;

van Wijk, Roy Gerth ;

Gonzalez Diaz, Sandra Nora ;

Gonzalez-Estrada, Alexei ;

Jares, Edgardo ;

Kalpaklioglu, Ayse Fusun ;

Tanno, Luciana Kase ;

Kowalski, Marek L. ;

Ledford, Dennis K. ;

Monge Ortega, Olga Patricia ;

Almeida, Mario Morais ;

Pfaar, Oliver ;

Poulsen, Lars K. ;

Pawankar, Ruby ;

Renz, Harald E. ;

Romano, Antonino G. ;

Rosario Filho, Nelson A. ;

Rosenwasser, Lanny ;

Sanchez Borges, Mario A. ;

Scala, Enrico ;

Senna, Gian-Enrico ;

Carlos Sisul, Juan ;

Tang, Mimi L. K. ;

Thong, Bernard Yu-Hor ;

Valenta, Rudolf ;

Wood, Robert A. ;

Zuberbier, Torsten .

WORLD ALLERGY ORGANIZATION JOURNAL, 2020, 13 (02)

[10] Evaluation of CD4+CD25+FOXP3+ regulatory T cells function in patients with common variable immunodeficiency [J].

Arandi, Nargess ;

Mirshafiey, Abbas ;

Jeddi-Tehrani, Mahmood ;

Abolhassani, Hassan ;

Sadeghi, Bamdad ;

Mirminachi, Babak ;

Shaghaghi, Mohammadreza ;

Aghamohammadi, Asghar .

CELLULAR IMMUNOLOGY, 2013, 281 (02) :129-133

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