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Biomedicines
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Immunodeficiency Diseases: At the Crossroad between Infections, Immune Dysregulation and...
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Immunodeficiency Diseases: At the Crossroad between Infections, Immune Dysregulation and Cancers

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Immunology and Immunotherapy".

Deadline for manuscript submissions: closed (30 September 2022) | Viewed by 7125

Special Issue Editors

Dr. Francesco Cinetto

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Guest Editor
Rare Diseases Referral Center, Ca’ Foncello Hospital, AULSS2 Marca Trevigiana, Treviso, Italy
Department of Medicine – DIMED, University of Padova, Padova, Italy
Interests: primary immunodeficiencies; secondary immunodeficiencies; interstitial lung diseases; sarcoidosis; granulomatous diseases
Dr. Cinzia Milito

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Guest Editor
Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
Interests: primary immunodeficiencies; primary antibody deficiencies; GLILD; COVID-19 in PAD; anti-polysaccharide antibody response; vaccination; immunoglobulin treatment; secondary immunodeficiency

Special Issue Information

Dear Colleagues,

Primary immunodeficiencies (PID) include a broad spectrum of diseases, almost all classified as rare diseases, which range from combined cellular and humoral deficiencies to extremely selective antibody defects. Clinical manifestations include infections, autoimmune and autoinflammatory diseases, allergy, and cancer. Many severe PIDs affect children, while primary antibody deficiencies are less rare and mainly diagnosed during adulthood. Secondary immunodeficiencies are acquired diseases resembling clinical features of PIDs. They are much more frequent, due to old and new anti-neoplastic and immune-modulating drugs, including monoclonal antibodies and small molecule inhibitors; a further category is represented by phenocopies of PIDs associated with autoantibodies. Understanding genetic basis, pathogenic pathways, and mechanisms leading to clinical manifestations and organ damage in PID will hopefully lead to a better and more tailored management of PID patients. On the other hand, dissecting the pathogenesis of PIDs might have direct implications for the management of more common acquired disorders of the immune system (autoimmune, neoplastic) and of PID phenocopies, as well as for the comprehension of the mechanisms of immune surveillance against cancer.

Dr. Francesco Cinetto
Dr. Cinzia Milito
Guest Editors

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Keywords

  • immune dysregulation
  • organ damage
  • cancer
  • genetics
  • interstitial lung disease
  • precision medicine
  • infections
  • biologics
  • autoimmunity
  • phenocopies of PIDs

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Published Papers (3 papers)

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Research

11 pages, 286 KiB  
Article
The Importance of Endoscopy with Biopsy: Real-World Evidence of Gastrointestinal Involvement in Primary Immunodeficiency in Two Main Northern Italian Centres
by Stefania Nicola, Francesco Cinetto, Stefano Della Mura, Luca Lo Sardo, Elena Saracco, Ilaria Vitali, Riccardo Scarpa, Helena Buso, Vera Bonato, Claudia Discardi, Giovanni Rolla, Carla Felice, Marcello Rattazzi and Luisa Brussino
Biomedicines 2023, 11(1), 170; https://doi.org/10.3390/biomedicines11010170 - 10 Jan 2023
Cited by 1 | Viewed by 1919
Abstract
Introduction: Inborn errors of immunity (IEI) represent a heterogeneous group of diseases in which the true prevalence of GI involvement is not well-known. This study evaluates the prevalence of lower GI manifestations in patients with common variable immunodeficiency (CVID), analysing the histologic findings [...] Read more.
Introduction: Inborn errors of immunity (IEI) represent a heterogeneous group of diseases in which the true prevalence of GI involvement is not well-known. This study evaluates the prevalence of lower GI manifestations in patients with common variable immunodeficiency (CVID), analysing the histologic findings in colonic samples and assessing any correlations with biochemical abnormalities. Materials and Methods: A retrospective study was performed by collecting the data of IEI adult patients followed up at two main Northern Italian centres. Demographic and clinical data, and blood tests were collected. A colonoscopy with multiple biopsies in standard sites, in addition to a biopsy for any macroscopic lesion, was performed. The gastrointestinal Symptom Rating Scale for Irritable Bowel Syndrome (GSRS-IBS) and the short Inflammatory Bowel Disease Questionnaire (sIBDQ) were used to assess GI symptoms. Results: 141 patients were included: 121 (86.5%) with CVID, 17 (12.1%) with IgG subclass deficiency, and 2 (1.4%) with X-linked agammaglobulinemia. Of the patients, 72 (51%) complained of GI symptoms. No differences were seen between patients receiving or not IgRT. GI infections were found in 9 patients (6.4%). No significant correlations were found between gut infections and symptoms or leukocyte infiltrates. Colonoscopy alterations were present in 79 patients (56%), and the most common were colon polyps (42%). Microscopical abnormalities were seen in 60 histologic samples (42.5%) and the most frequent was nodular lymphoid hyperplasia (40%). A leukocyte infiltrate was present in 67 samples (47.5%), and the most common was a lymphocyte infiltrate (33%). No correlation was found between GI symptoms and macroscopic alterations, whereas a positive correlation between symptoms and microscopic alterations was detected. Conclusions: GI symptoms and microscopic alterations in colon samples are closely related; hence, it is important to carry out serial colonic biopsies in every CVID patient, even in the absence of macroscopic lesions. Full article
(This article belongs to the Special Issue Immunodeficiency Diseases: At the Crossroad between Infections, Immune Dysregulation and Cancers)
11 pages, 285 KiB  
Article
Common Variable Immunodeficiency in Elderly Patients: A Long-Term Clinical Experience
by Maria Giovanna Danieli, Cristina Mezzanotte, Jacopo Umberto Verga, Denise Menghini, Veronica Pedini, Maria Beatrice Bilò and Gianluca Moroncini
Biomedicines 2022, 10(3), 635; https://doi.org/10.3390/biomedicines10030635 - 9 Mar 2022
Cited by 2 | Viewed by 2380
Abstract
Background: Common variable immunodeficiency (CVID) is a complex, predominantly antibody deficiency usually diagnosed between 20–40 years. Few data about elderly patients are reported in the literature. Our aim was to evaluate the clinical phenotypes of elderly patients with CVID. Method: A retrospective analysis [...] Read more.
Background: Common variable immunodeficiency (CVID) is a complex, predominantly antibody deficiency usually diagnosed between 20–40 years. Few data about elderly patients are reported in the literature. Our aim was to evaluate the clinical phenotypes of elderly patients with CVID. Method: A retrospective analysis of adult patients with CVID was performed in our Referral Centre, focusing on the main differences between “older” patients (≥65 years at the diagnosis) and “younger” patients (<65 years). Results: The data from 65 younger and 13 older patients followed up for a median period of 8.5 years were available. At diagnosis, recurrent infections represented the only clinical manifestation in 61% and 69% of younger and older patients, respectively. The incidence of autoimmune diseases was higher in elderly patients compared with younger ones (30 vs. 18%, respectively). During the follow-up, the incidence of autoimmune disorders and enteropathy increased in the younger patients whereas neoplasia became the most prevalent complication in the elderly (38%). All patients received a replacement therapy with immunoglobulin, with good compliance. Conclusion: CVID occurrence in elderly patients is rarely described; therefore, the clinical characteristics are not completely known. In our series, neoplasia became the most prevalent complication in the elderly during the follow-up. In elderly patients, 20% SCIg was as safe as in the younger ones, with good compliance. A genetic analysis is important to confirm the diagnosis, identify specific presentations in the different ages, clarify the prognosis and guide the treatment. Future clinical research in this field may potentially help to guide their care. Full article
(This article belongs to the Special Issue Immunodeficiency Diseases: At the Crossroad between Infections, Immune Dysregulation and Cancers)
19 pages, 58824 KiB  
Article
Genes Common in Primary Immunodeficiencies and Cancer Display Overrepresentation of Codon CTG and Dominant Role of Selection Pressure in Shaping Codon Usage
by Rekha Khandia, Taha Alqahtani and Ali M. Alqahtani
Biomedicines 2021, 9(8), 1001; https://doi.org/10.3390/biomedicines9081001 - 12 Aug 2021
Cited by 19 | Viewed by 2110
Abstract
Primary immunodeficiencies (PIDs) are disorders of the immune system that involve faulty cellular, humoral, or both cellular and humoral functions. PIDs are present at the crossroad between infections, immune dysregulation, and cancers. A panel encompassing 42 genes involved in both PIDs and cancer [...] Read more.
Primary immunodeficiencies (PIDs) are disorders of the immune system that involve faulty cellular, humoral, or both cellular and humoral functions. PIDs are present at the crossroad between infections, immune dysregulation, and cancers. A panel encompassing 42 genes involved in both PIDs and cancer has been investigated for the genes’ compositional properties, codon usage patterns, various forces affecting codon choice, protein properties, and gene expression profiles. In the present study, the codon choice of genes was found to be dependent upon the richness of the nucleotide; the viz AT nucleotide rich genome preferred AT ending codons. The dinucleotide TpA adversely affected protein expression, while CpG did not. The CTG codon was the most overrepresented codon in 80.95% of genes. Analysis of various protein properties, including GRAVY, AROMA, isoelectric point, aliphatic index, hydrophobicity, instability index, and numbers of acidic, basic, and neutral amino acid residues revealed that the hydrophobicity index, instability index, and numbers of acidic and basic amino acid residues are the factors affecting gene expression. Based on neutrality analysis, parity analysis, ENc-GC3 analysis, and regression analysis of nucleotides present at the first and third positions of the codon, it was determined that selection pressure, mutation pressure, and compositional constraints all participated in shaping codon usage. The study will help determine the various evolutionary forces acting on genes common to both PIDs and cancer. Codon usage analysis might be helpful in the future to augment both diseases simultaneously. The research also indicates a peculiar pattern adapted by a set of genes involved in any disease. Full article
(This article belongs to the Special Issue Immunodeficiency Diseases: At the Crossroad between Infections, Immune Dysregulation and Cancers)
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