Diagnostic Approach to the Patients with Suspected Primary Immunodeficiency

Author(s): Marzieh Tavakol, Mahnaz Jamee, Gholamreza Azizi*, Homa Sadri, Yasser Bagheri, Majid Zaki-Dizaji, Fatemeh Sadat Mahdavi, Farhad Jadidi-Niaragh, Sanaz Tajfirooz, Ali N. Kamali, Fatemeh Aghamahdi, Shahab Noorian, Habibeh Taghavi Kojidi, Mehdi Mosavian, Rahman Matani, Elahe Dolatshahi, Kumars Porrostami, Nasrin Elahimehr, Marzie Fatemi-Abhari, Laleh Sharifi, Reza Arjmand, Sabahat Haghi, Hamed Zainaldain, Reza Yazdani, Mohammadreza Shaghaghi, Hassan Abolhassani, Asghar Aghamohammadi.

Journal Name: Endocrine, Metabolic & Immune Disorders - Drug Targets
(Formerly Current Drug Targets - Immune, Endocrine & Metabolic Disorders)

Volume 20 , Issue 2 , 2020

DOI : 10.2174/1871530319666190828125316

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Graphical Abstract:


Abstract:

Background and Objective: Primary immunodeficiency diseases (PIDs) are a group of more than 350 disorders affecting distinct components of the innate and adaptive immune systems. In this review, the classic and advanced stepwise approach towards the diagnosis of PIDs are simplified and explained in detail.

Results: Susceptibility to recurrent infections is the main hallmark of almost all PIDs. However, noninfectious complications attributable to immune dysregulation presenting with lymphoproliferative and/or autoimmune disorders are not uncommon. Moreover, PIDs could be associated with misleading presentations including allergic manifestations, enteropathies, and malignancies.

Conclusion: Timely diagnosis is the most essential element in improving outcome and reducing the morbidity and mortality in PIDs. This wouldn’t be possible unless the physicians keep the diagnosis of PID in mind and be sufficiently aware of the approach to these patients.

Keywords: Primary immunodeficiency disorders, infection, antibody deficiency, combined immunodeficiency, autoimmunity, enteropathy.

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VOLUME: 20
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Year: 2020
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DOI: 10.2174/1871530319666190828125316
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