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Progress in Diagnosis and Treatment of Primary Immunodeficiencies
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Progress in Diagnosis and Treatment of Primary Immunodeficiencies

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Immunology".

Deadline for manuscript submissions: 10 November 2024 | Viewed by 4264

Special Issue Editor

Dr. Alexandros Grammatikos

E-Mail Website
Guest Editor
Department of Immunology, North Bristol NHS Trust, Bristol, UK
Interests: immunology; allergy; immune system; B Lymphocytes; T Lymphocytes; clinical immunology; immunode-ficiency; chronic granulomatous disease; autoimmunity; immunogenetics

Special Issue Information

Dear Colleagues,

Primary immunodeficiencies (PIDs) are a heterogenous group of >400 disorders that are often associated with recurrent, opportunistic or severe infections and various autoimmune manifestations. Improved recognition of PIDs and advances in molecular diagnostics have led to a significant increase in the number of individual PIDs that are currently being recognized. Despite a significant expansion in our knowledge in recent years, there remain significant gaps in our understanding of their pathogenesis and potential treatments. The aim of this Special Issue is to present the most recent developments and future prospects on the diagnosis and treatment of this diverse groups of disorders.

Dr. Alexandros Grammatikos
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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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 2600 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.

Keywords

  • primary immunodeficiencies
  • autoimmune manifestations
  • PIDs

Published Papers (4 papers)

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Research

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12 pages, 1694 KiB  
Article
Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype
by Giorgio Costagliola, Annalisa Legitimo, Veronica Bertini, Antonino Maria Quintilio Alberio, Angelo Valetto and Rita Consolini
J. Clin. Med. 2023, 12(24), 7579; https://doi.org/10.3390/jcm12247579 - 8 Dec 2023
Viewed by 808
Abstract
The clinical expression of 22q11.2 deletion syndrome (22q11.2 DS) is extremely variable, as patients can present with recurrent or severe infections, immune dysregulation, atopic diseases, or extra-immunological manifestations. The immunological background underlying the different disease manifestations is not completely elucidated. The aim of [...] Read more.
The clinical expression of 22q11.2 deletion syndrome (22q11.2 DS) is extremely variable, as patients can present with recurrent or severe infections, immune dysregulation, atopic diseases, or extra-immunological manifestations. The immunological background underlying the different disease manifestations is not completely elucidated. The aim of this study was to identify the immunophenotypic peculiarities of 22q11.2 DS patients presenting with different disease expressions. This study included 34 patients with 22q11.2 DS, divided into three groups according to the clinical phenotype: isolated extra-immunological manifestations (G1), infectious phenotype with increased/severe infections (G2), and immune dysregulation (G3). The patients underwent extended immunophenotyping of the T and B lymphocytes and analysis of the circulating dendritic cells (DCs). In patients with an infectious phenotype, a significant reduction in CD3+ and CD4+ cells and an expansion of CD8 naïve cells was evidenced. On the other hand, the immunophenotype of the patients with immune dysregulation showed a skewing toward memory T cell populations, and reduced levels of recent thymic emigrants (RTEs), while the highest levels of RTEs were detected in the patients with isolated extra-immunological manifestations. This study integrates the current literature, contributing to elucidating the variability in the immune status of patients with 22q11.2DS with different phenotypic expressions, particularly in those with infectious phenotype and immune dysregulation. Full article
(This article belongs to the Special Issue Progress in Diagnosis and Treatment of Primary Immunodeficiencies)
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Review

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32 pages, 493 KiB  
Review
The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review
by Adam Al-Hakim, Mark Kacar and Sinisa Savic
J. Clin. Med. 2024, 13(6), 1717; https://doi.org/10.3390/jcm13061717 - 16 Mar 2024
Viewed by 893
Abstract
Common Variable Immunodeficiency (CVID) is a heterogeneous primary immunodeficiency disorder characterised by impaired antibody production, leading to recurrent infections and an increased susceptibility to viral pathogens. This literature review aims to provide a comprehensive overview of CVID’s relationship with viral infections, encompassing disease [...] Read more.
Common Variable Immunodeficiency (CVID) is a heterogeneous primary immunodeficiency disorder characterised by impaired antibody production, leading to recurrent infections and an increased susceptibility to viral pathogens. This literature review aims to provide a comprehensive overview of CVID’s relationship with viral infections, encompassing disease pathogenesis, key presenting features, specific monogenic susceptibilities, the impact of COVID-19, and existing treatment options. The pathogenesis of CVID involves complex immunological dysregulation, including defects in B cell development, antibody class switching, and plasma cell differentiation. These abnormalities contribute to an impaired humoral immune response against viral agents, predisposing individuals with CVID to a broad range of viral infections. Genetic factors play a prominent role in CVID, and monogenic drivers of CVID-like disease are increasingly identified through advanced genomic studies. Some monogenic causes of the CVID-like phenotype appear to cause specific viral susceptibilities, and these are explored in the review. The emergence of the COVID-19 pandemic highlighted CVID patients’ heightened predisposition to severe outcomes with viral infections. This review explores the clinical manifestations, outcomes, and potential therapeutic approaches for COVID-19 in CVID patients. It assesses the efficacy of prophylactic measures for COVID-19, including vaccination and immunoglobulin replacement therapy, as well as trialled therapies. Full article
(This article belongs to the Special Issue Progress in Diagnosis and Treatment of Primary Immunodeficiencies)
21 pages, 973 KiB  
Review
Differential Diagnosis: Hepatic Complications in Inborn Errors of Immunity
by Emily Zinser, Ky-Lyn Tan, Da-In S. Kim, Rachael O’Brien, Alison Winstanley and Patrick F. K. Yong
J. Clin. Med. 2023, 12(23), 7480; https://doi.org/10.3390/jcm12237480 - 3 Dec 2023
Viewed by 1346
Abstract
Inborn errors of immunity (IEIs) are a heterogeneous group of diverse clinical and genetic phenotypes that have an estimated combined prevalence as high as 1/1000. Increased risk of frequent, severe, or opportunistic infections is a common feature of IEIs, but there are also [...] Read more.
Inborn errors of immunity (IEIs) are a heterogeneous group of diverse clinical and genetic phenotypes that have an estimated combined prevalence as high as 1/1000. Increased risk of frequent, severe, or opportunistic infections is a common feature of IEIs, but there are also diverse immune-mediated, non-infective complications that are associated with significant morbidity and mortality. As patient survival increases, these are becoming more apparent within the liver. Hepatic involvement of IEIs may not only manifest as infections, but also nodular regenerative hyperplasia, granulomatous disease, autoimmune hepatitis and malignancy. As therapeutic options for patients are expanding, with both pharmaceutical treatments as well as haematopoietic stem cell transplant (HSCT), iatrogenic liver injury is increasingly common and important to identify. This review article summarises the spectrum of hepatic complications seen in IEIs, and highlights the challenges of management within this patient cohort, where immunosuppression is poorly tolerated. Early recognition and prompt diagnosis of potential hepatic complications is therefore crucial in ensuring potentially reversible causes are treated, but significant uncertainty remains regarding best practice for many features of immune dysregulation with limited high-quality evidence. Full article
(This article belongs to the Special Issue Progress in Diagnosis and Treatment of Primary Immunodeficiencies)
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Other

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7 pages, 711 KiB  
Brief Report
The Multifaceted Syndromic Primary Immunodeficiencies in Children
by Khuen Foong Ng, Anu Goenka, Florence Manyika and Jolanta Bernatoniene
J. Clin. Med. 2023, 12(15), 4964; https://doi.org/10.3390/jcm12154964 - 28 Jul 2023
Viewed by 991
Abstract
Background: Disorders of immunity are poorly recognised in some rare multisystem genetic conditions. We aim to describe syndromic features and immunological defects in children with syndromic primary immunodeficiencies (sPIDs). Methods: This is a retrospective descriptive study of children aged 0–18 years with sPIDs [...] Read more.
Background: Disorders of immunity are poorly recognised in some rare multisystem genetic conditions. We aim to describe syndromic features and immunological defects in children with syndromic primary immunodeficiencies (sPIDs). Methods: This is a retrospective descriptive study of children aged 0–18 years with sPIDs under the care of the paediatric immunology service at the Bristol Royal Hospital for Children, United Kingdom, from January 2006 to September 2021. Results: sPIDs were identified in 36 patients. Genetic diagnoses which are not commonly associated with PIDs and not included in the International Union of Immunological Societies classification were present in 7/36 (19%): Trisomy 22, Arboleda-Tham syndrome, 2p16.3 deletion syndrome, supernumerary ring chromosome 20 syndrome, Myhre syndrome, Noonan syndrome, and trichothiodystrophy/Cockayne syndrome complex. Recurrent and/or severe infections were the most common clinical features (n = 33, 92%). Approximately half had combined immunodeficiency or antibody deficiency. The most common extra-immunological manifestations include dysmorphism (72%), disorders of nervous (78%), musculoskeletal (69%), haematology/lymphatic (58%), and gastrointestinal, hepatic/pancreatic (58%) systems. Conclusions: Patients with sPIDs often have multiorgan involvement and some are non-immunologically mediated. There should be a low threshold to clinically assess and investigate for disorders of immunity in any patients with syndromic features especially when they present with recurrent/severe/opportunistic infections, features of immune dysregulation, autoinflammation or lymphoproliferation. Full article
(This article belongs to the Special Issue Progress in Diagnosis and Treatment of Primary Immunodeficiencies)
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