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Pathogens
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Infection in Inborn Errors of Immunity
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Infection in Inborn Errors of Immunity

A special issue of Pathogens (ISSN 2076-0817). This special issue belongs to the section "Immunological Responses and Immune Defense Mechanisms".

Deadline for manuscript submissions: closed (31 December 2023) | Viewed by 15718

Special Issue Editor

Prof. Dr. Sudhir Gupta

E-Mail Website
Guest Editor
Medicine, Pathology & Laboratory Medicine, and Microbiology & Molecular Genetics, University of California at Irvine Medical Sciences I, C-240, Irvine, CA 92697, USA
Interests: genetic basis of primary immunodeficiency diseases; functional and molecular characteristics of CD8 treg in health and diseases; B cell biology in primary immunodeficiency diseases; T follicular helper and T follicular regulatory cells; COVID-19 in inborn errors of immunity
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Inborn errors of Immunity (IEI) or commonly known as primary immunodeficiencies (PIDs) are genetic disorders of various components of the immune system. These disorders range from developmental defects in central lymphoid organs (thymus and bone marrow) and defects of activation and differentiation to effector cells in the peripheral lymphoid organs (spleen and lymph nodes). More than 465 different IEI and more than 400 genes causing these disorders have been reported. These IEI have been categorized in 10 different groups. Patients in at least 8 of 10 categories are susceptible to recurrent and/or serious infections with common, or unusual microbial pathogens. Patients in different categories undergo hematopoietic stem cell transplantation (HSCT), and post-transplant periods are susceptible to chronic and serious infections.

In the Special Issue “Infection in Inborn Errors of Immunity”, we invite the submission of original manuscripts in any of the following areas:

  1. Infections in SCID
  2. Microbiome and its dysbiosis in IEI
  3. Infections in Disorders of DNA repairs-
  4. Infections in Combined Immunodeficiency diseases
  5. Infections in Phagocytic cell defects
  6. Infections in Disorders of Immune Regulation
  7. Infections in MSMD
  8. IEI with increased susceptibility to HSV infections
  9. IEI with increased susceptibility to EBV infections
  10. IEI with susceptibility to Invasive fungal infections
  11. Infections in HSCT for IEI.

Prof. Dr. Sudhir Gupta
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Pathogens is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers (7 papers)

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Review

17 pages, 325 KiB  
Review
Infections in Disorders of Immune Regulation
by Abarna Thangaraj, Reva Tyagi, Deepti Suri and Sudhir Gupta
Pathogens 2024, 13(3), 259; https://doi.org/10.3390/pathogens13030259 - 17 Mar 2024
Viewed by 1059
Abstract
Primary immune regulatory disorders (PIRDs) constitute a spectrum of inborn errors of immunity (IEIs) that are primarily characterized by autoimmunity, lymphoproliferation, atopy, and malignancy. In PIRDs, infections are infrequent compared to other IEIs. While susceptibility to infection primarily stems from antibody deficiency, it [...] Read more.
Primary immune regulatory disorders (PIRDs) constitute a spectrum of inborn errors of immunity (IEIs) that are primarily characterized by autoimmunity, lymphoproliferation, atopy, and malignancy. In PIRDs, infections are infrequent compared to other IEIs. While susceptibility to infection primarily stems from antibody deficiency, it is sometimes associated with additional innate immune and T or NK cell defects. The use of immunotherapy and chemotherapy further complicates the immune landscape, increasing the risk of diverse infections. Recurrent sinopulmonary infections, particularly bacterial infections such as those associated with staphylococcal and streptococcal organisms, are the most reported infectious manifestations. Predisposition to viral infections, especially Epstein–Barr virus (EBV)-inducing lymphoproliferation and malignancy, is also seen. Notably, mycobacterial and invasive fungal infections are rarely documented in these disorders. Knowledge about the spectrum of infections in these disorders would prevent diagnostic delays and prevent organ damage. This review delves into the infection profile specific to autoimmune lymphoproliferative syndrome (ALPS), Tregopathies, and syndromes with autoimmunity within the broader context of PIRD. Despite the critical importance of understanding the infectious aspects of these disorders, there remains a scarcity of comprehensive reports on this subject. Full article
(This article belongs to the Special Issue Infection in Inborn Errors of Immunity)
19 pages, 1440 KiB  
Review
Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease
by Aparna Dalvi, Umair Ahmed Bargir, Gita Natraj, Ira Shah and Manisha Madkaikar
Pathogens 2024, 13(3), 203; https://doi.org/10.3390/pathogens13030203 - 25 Feb 2024
Viewed by 1170
Abstract
The diagnosis and treatment of patients with mendelian susceptibility to mycobacterial disease (MSMD) pose consistent challenges due to the diverse infection spectrum observed in this population. Common clinical manifestations include Bacillus Calmette-Guérin vaccine (BCG) complications in countries where routine BCG vaccination is practiced, [...] Read more.
The diagnosis and treatment of patients with mendelian susceptibility to mycobacterial disease (MSMD) pose consistent challenges due to the diverse infection spectrum observed in this population. Common clinical manifestations include Bacillus Calmette-Guérin vaccine (BCG) complications in countries where routine BCG vaccination is practiced, while in non-BCG-vaccinating countries, Non-Tuberculous Mycobacteria (NTM) is prevalent. In tuberculosis-endemic regions, Mycobacterium tuberculosis (MTB) has a high prevalence, along with other intracellular organisms. Isolating these organisms presents a significant challenge, and treatment is often initiated without confirming the specific species. This review primarily focuses on the methods and challenges associated with diagnosing and treating MSMD patients. Full article
(This article belongs to the Special Issue Infection in Inborn Errors of Immunity)
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15 pages, 1123 KiB  
Review
Microbiome and Its Dysbiosis in Inborn Errors of Immunity
by Madhubala Sharma, Manpreet Dhaliwal, Rahul Tyagi, Taru Goyal, Saniya Sharma and Amit Rawat
Pathogens 2023, 12(4), 518; https://doi.org/10.3390/pathogens12040518 - 27 Mar 2023
Cited by 2 | Viewed by 1954
Abstract
Inborn errors of immunity (IEI) can present with infections, autoimmunity, lymphoproliferation, granulomas, and malignancy. IEIs are due to genetic abnormalities that disrupt normal host-immune response or immune regulation. The microbiome appears essential for maintaining host immunity, especially in patients with a defective immune [...] Read more.
Inborn errors of immunity (IEI) can present with infections, autoimmunity, lymphoproliferation, granulomas, and malignancy. IEIs are due to genetic abnormalities that disrupt normal host-immune response or immune regulation. The microbiome appears essential for maintaining host immunity, especially in patients with a defective immune system. Altered gut microbiota in patients with IEI can lead to clinical symptoms. Microbial dysbiosis is the consequence of an increase in pro-inflammatory bacteria or a reduction in anti-inflammatory bacteria. However, functional and compositional differences in microbiota are also involved. Dysbiosis and a reduced alpha-diversity are well documented, particularly in conditions like common variable immunodeficiency. Deranged microbiota is also seen in Wiskott–Aldrich syndrome, severe combined immunodeficiency, chronic granulomatous disease, selective immunoglobulin-A deficiency, Hyper IgE syndrome (HIGES), X-linked lymphoproliferative disease-2, immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome, and defects of IL10 signalling. Distinct gastrointestinal, respiratory, and cutaneous symptoms linked to dysbiosis are seen in several IEIs, emphasizing the importance of microbiome identification. In this study, we discuss the processes that maintain immunological homeostasis between commensals and the host and the disruptions thereof in patients with IEIs. As the connection between microbiota, host immunity, and infectious illnesses is better understood, microbiota manipulation as a treatment strategy or infection prevention method would be more readily employed. Therefore, optimal prebiotics, probiotics, postbiotics, and fecal microbial transplantation can be promising strategies to restore the microbiota and decrease disease pathology in patients with IEIs. Full article
(This article belongs to the Special Issue Infection in Inborn Errors of Immunity)
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44 pages, 2206 KiB  
Review
Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases
by Donald C. Vinh
Pathogens 2023, 12(3), 456; https://doi.org/10.3390/pathogens12030456 - 14 Mar 2023
Cited by 3 | Viewed by 3954
Abstract
In medical mycology, the main context of disease is iatrogenic-based disease. However, historically, and occasionally, even today, fungal diseases affect humans with no obvious risk factors, sometimes in a spectacular fashion. The field of “inborn errors of immunity” (IEI) has deduced at least [...] Read more.
In medical mycology, the main context of disease is iatrogenic-based disease. However, historically, and occasionally, even today, fungal diseases affect humans with no obvious risk factors, sometimes in a spectacular fashion. The field of “inborn errors of immunity” (IEI) has deduced at least some of these previously enigmatic cases; accordingly, the discovery of single-gene disorders with penetrant clinical effects and their immunologic dissection have provided a framework with which to understand some of the key pathways mediating human susceptibility to mycoses. By extension, they have also enabled the identification of naturally occurring auto-antibodies to cytokines that phenocopy such susceptibility. This review provides a comprehensive update of IEI and autoantibodies that inherently predispose humans to various fungal diseases. Full article
(This article belongs to the Special Issue Infection in Inborn Errors of Immunity)
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15 pages, 313 KiB  
Review
Infections in DNA Repair Defects
by Yesim Yilmaz Demirdag and Sudhir Gupta
Pathogens 2023, 12(3), 440; https://doi.org/10.3390/pathogens12030440 - 10 Mar 2023
Cited by 1 | Viewed by 1430
Abstract
DNA repair defects are heterogenous conditions characterized by a wide spectrum of clinical phenotypes. The common presentations of DNA repair defects include increased risk of cancer, accelerated aging, and defects in the development of various organs and systems. The immune system can be [...] Read more.
DNA repair defects are heterogenous conditions characterized by a wide spectrum of clinical phenotypes. The common presentations of DNA repair defects include increased risk of cancer, accelerated aging, and defects in the development of various organs and systems. The immune system can be affected in a subset of these disorders leading to susceptibility to infections and autoimmunity. Infections in DNA repair defects may occur due to primary defects in T, B, or NK cells and other factors such as anatomic defects, neurologic disorders, or during chemotherapy. Consequently, the characteristics of the infections may vary from mild upper respiratory tract infections to severe, opportunistic, and even fatal infections with bacteria, viruses, or fungi. Here, infections in 15 rare and sporadic DNA repair defects that are associated with immunodeficiencies are discussed. Because of the rarity of some of these conditions, limited information is available regarding infectious complications. Full article
(This article belongs to the Special Issue Infection in Inborn Errors of Immunity)
19 pages, 1940 KiB  
Review
Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System
by Morten Kelder Skouboe, Marvin Werner and Trine H. Mogensen
Pathogens 2023, 12(2), 310; https://doi.org/10.3390/pathogens12020310 - 13 Feb 2023
Cited by 1 | Viewed by 3368
Abstract
Herpesvirus infections can lead to a number of severe clinical manifestations, particularly when involving the central nervous system (CNS), causing encephalitis and meningitis. However, understanding of the host factors conferring increased susceptibility to these diseases and their complications remains incomplete. Previous studies have [...] Read more.
Herpesvirus infections can lead to a number of severe clinical manifestations, particularly when involving the central nervous system (CNS), causing encephalitis and meningitis. However, understanding of the host factors conferring increased susceptibility to these diseases and their complications remains incomplete. Previous studies have uncovered defects in the innate Toll-like receptor 3 pathway and production of type I interferon (IFN-I) in children and adults that predispose them to herpes simplex encephalitis. More recently, there is accumulating evidence for an important role of IFN-independent cell-autonomous intrinsic mechanisms, including small nucleolar RNAs, RNA lariat metabolism, and autophagy, in restricting herpesvirus replication and conferring protection against CNS infection. The present review first describes clinical manifestations of HSV infection with a focus on neurological complications and then summarizes the host–pathogen interactions and innate immune pathways responsible for sensing herpesviruses and triggering antiviral responses and immunity. Next, we review the current landscape of inborn errors of immunity and the underlying genetic defects and disturbances of cellular immune pathways that confer increased susceptibility to HSV infection in CNS. Ultimately, we discuss some of the present outstanding unanswered questions relating to inborn errors of immunity and HSV CNS infection together with some perspectives and future directions for research in the pathogenesis of these severe diseases in humans. Full article
(This article belongs to the Special Issue Infection in Inborn Errors of Immunity)
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27 pages, 467 KiB  
Review
Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review
by Kalpana George and Geeta Govindaraj
Pathogens 2023, 12(2), 272; https://doi.org/10.3390/pathogens12020272 - 07 Feb 2023
Cited by 3 | Viewed by 2163
Abstract
Enhanced susceptibility to microbes, often resulting in severe, intractable and frequent infections due to usually innocuous organisms at uncommon sites, is the most striking feature in individuals with an inborn error of immunity. In this narrative review, based on the International Union of [...] Read more.
Enhanced susceptibility to microbes, often resulting in severe, intractable and frequent infections due to usually innocuous organisms at uncommon sites, is the most striking feature in individuals with an inborn error of immunity. In this narrative review, based on the International Union of Immunological Societies’ 2022 (IUIS 2022) Update on phenotypic classification of human inborn errors of immunity, the focus is on commonly encountered Combined Immunodeficiency Disorders (CIDs) with susceptibility to infections. Combined immune deficiency disorders are usually commensurate with survival beyond infancy unlike Severe Combined Immune Deficiency (SCID) and are often associated with clinical features of a syndromic nature. Defective humoral and cellular immune responses result in susceptibility to a broad range of microbial infections. Although disease onset is usually in early childhood, mild defects may present in late childhood or even in adulthood. A precise diagnosis is imperative not only for determining management strategies, but also for providing accurate genetic counseling, including prenatal diagnosis, and also in deciding empiric treatment of infections upfront before investigation reports are available. Full article
(This article belongs to the Special Issue Infection in Inborn Errors of Immunity)
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