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  1. Book ; Online: Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges

    Consolini, Rita / Costagliola, Giorgio

    2023  

    Keywords Technology: general issues ; Biotechnology ; B cell maturation ; CD4+ cells ; T cell maturation ; primary immune deficiency ; autoimmunity ; connective tissue diseases ; atopic diseases ; atopy ; allergy ; selective IgA deficiency ; primary immunodeficiency ; autoimmune diseases ; Immunoglobulin E ; Immunoglobulin deficiency ; infections ; malignancy ; 22q11.2 deletion syndrome ; activated phosphoinositide 3-kinase d syndrome ; common variable immunodeficiency ; complement deficiency ; CTLA-4 ; Immune dysregulation ; LRBA ; severe combined immunodeficiency ; X-linked agammaglobulinemia ; anti-SARS-CoV-2 antibodies ; COVID-19 ; SARS-CoV-2 ; PIMS-TS ; Foxp3 ; IPEX ; CVID ; primary immunodeficiencies ; epigenetics ; DNA methylation ; inborn errors of immunity ; DiGeorge syndrome ; 22q11.2 deletion ; thymic output ; dendritic cells ; immunodeficiency ; copy number variations ; array-CGH ; IKZF1 ; IKAROS ; de novo mutation ; R162Q ; immune response ; heterologous vaccine ; humoral response ; T-cell response ; autoimmune lymphoproliferative syndrome ; lymphoproliferation ; gastrointestinal infections ; Giardia ; giardiasis ; refractory ; treatment ; immunology ; immunogenetic ; eosinophilic gastrointestinal disorders ; eosinophilic esophagitis ; unclassified primary antibody deficiency ; primary antibody deficiency ; transient hypogammaglobulinemia of infancy ; children ; TNFRSF13B mutations ; isolated IgM deficiency ; n/a
    Language English
    Size 1 electronic resource (228 pages)
    Publisher MDPI - Multidisciplinary Digital Publishing Institute
    Publishing place Basel
    Document type Book ; Online
    Note English
    HBZ-ID HT030381996
    ISBN 9783036583099 ; 3036583092
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article: Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges.

    Costagliola, Giorgio / Consolini, Rita

    Journal of clinical medicine

    2023  Volume 12, Issue 14

    Abstract: The field of immunology is rapidly progressing, with new monogenic disorders being discovered every year [ ... ]. ...

    Abstract The field of immunology is rapidly progressing, with new monogenic disorders being discovered every year [...].
    Language English
    Publishing date 2023-07-13
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12144651
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Refractory immune thrombocytopenia: Lessons from immune dysregulation disorders.

    Costagliola, Giorgio / Consolini, Rita

    Frontiers in medicine

    2022  Volume 9, Page(s) 986260

    Language English
    Publishing date 2022-09-20
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2775999-4
    ISSN 2296-858X
    ISSN 2296-858X
    DOI 10.3389/fmed.2022.986260
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.

    Costagliola, Giorgio / Consolini, Rita

    Clinical and experimental immunology

    2021  Volume 205, Issue 3, Page(s) 288–305

    Abstract: Lymphadenopathies can be part of the clinical spectrum of several primary immunodeficiencies, including diseases with immune dysregulation and autoinflammatory disorders, as the clinical expression of benign polyclonal lymphoproliferation, granulomatous ... ...

    Abstract Lymphadenopathies can be part of the clinical spectrum of several primary immunodeficiencies, including diseases with immune dysregulation and autoinflammatory disorders, as the clinical expression of benign polyclonal lymphoproliferation, granulomatous disease or lymphoid malignancy. Lymphadenopathy poses a significant diagnostic dilemma when it represents the first sign of a disorder of the immune system, leading to a consequently delayed diagnosis. Additionally, the finding of lymphadenopathy in a patient with diagnosed immunodeficiency raises the question of the differential diagnosis between benign lymphoproliferation and malignancies. Lymphadenopathies are evidenced in 15-20% of the patients with common variable immunodeficiency, while in other antibody deficiencies the prevalence is lower. They are also evidenced in different combined immunodeficiency disorders, including Omenn syndrome, which presents in the first months of life. Interestingly, in the activated phosphoinositide 3-kinase delta syndrome, autoimmune lymphoproliferative syndrome, Epstein-Barr virus (EBV)-related lymphoproliferative disorders and regulatory T cell disorders, lymphadenopathy is one of the leading signs of the entire clinical picture. Among autoinflammatory diseases, the highest prevalence of lymphadenopathies is observed in patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) and hyper-immunoglobulin (Ig)D syndrome. The mechanisms underlying lymphoproliferation in the different disorders of the immune system are multiple and not completely elucidated. The advances in genetic techniques provide the opportunity of identifying new monogenic disorders, allowing genotype-phenotype correlations to be made and to provide adequate follow-up and treatment in the single diseases. In this work, we provide an overview of the most relevant immune disorders associated with lymphadenopathy, focusing on their diagnostic and prognostic implications.
    MeSH term(s) Common Variable Immunodeficiency/diagnosis ; Common Variable Immunodeficiency/genetics ; Common Variable Immunodeficiency/immunology ; Common Variable Immunodeficiency/pathology ; Epstein-Barr Virus Infections/immunology ; Genetic Predisposition to Disease/genetics ; Herpesvirus 4, Human/immunology ; Humans ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/immunology ; Immunologic Deficiency Syndromes/pathology ; Infant ; Infant, Newborn ; Lymphadenopathy/diagnosis ; Lymphadenopathy/immunology ; Lymphadenopathy/pathology ; Lymphoproliferative Disorders/diagnosis ; Lymphoproliferative Disorders/genetics ; Lymphoproliferative Disorders/immunology ; Lymphoproliferative Disorders/pathology
    Language English
    Publishing date 2021-06-20
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 218531-3
    ISSN 1365-2249 ; 0009-9104 ; 0964-2536
    ISSN (online) 1365-2249
    ISSN 0009-9104 ; 0964-2536
    DOI 10.1111/cei.13620
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 337: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  5. Article: The Challenge of Managing Children With Periodic Fever Syndromes in the Era of COVID-19.

    Consolini, Rita / Costagliola, Giorgio / Gattorno, Marco

    Frontiers in pediatrics

    2021  Volume 8, Page(s) 620621

    Language English
    Publishing date 2021-01-06
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2020.620621
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Beyond Infections: New Warning Signs for Inborn Errors of Immunity in Children.

    Costagliola, Giorgio / Peroni, Diego G / Consolini, Rita

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 855445

    Abstract: Patients with inborn errors of immunity (IEI) are susceptible to developing a severe infection-related clinical phenotype, but the clinical consequences of immune dysregulation, expressed with autoimmunity, atopy, and lymphoproliferation could represent ... ...

    Abstract Patients with inborn errors of immunity (IEI) are susceptible to developing a severe infection-related clinical phenotype, but the clinical consequences of immune dysregulation, expressed with autoimmunity, atopy, and lymphoproliferation could represent the first sign in a significant percentage of patients. Therefore, during the diagnostic work-up patients with IEI are frequently addressed to different specialists, including endocrinologists, rheumatologists, and allergologists, often resulting in a delayed diagnosis. In this paper, the most relevant non-infectious manifestations of IEI are discussed. Particularly, we will focus on the potential presentation of IEI with autoimmune cytopenia, non-malignant lymphoproliferation, severe eczema or erythroderma, autoimmune endocrinopathy, enteropathy, and rheumatologic manifestations, including vasculitis and systemic lupus erythematosus. This paper aims to identify new warning signs to suspect IEI and help in the identification of patients presenting with atypical/non-infectious manifestations.
    Language English
    Publishing date 2022-06-10
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.855445
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype.

    Costagliola, Giorgio / Legitimo, Annalisa / Bertini, Veronica / Alberio, Antonino Maria Quintilio / Valetto, Angelo / Consolini, Rita

    Journal of clinical medicine

    2023  Volume 12, Issue 24

    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 ... ...

    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 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.
    Language English
    Publishing date 2023-12-08
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12247579
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications.

    Costagliola, Giorgio / Cappelli, Susanna / Consolini, Rita

    Journal of clinical medicine

    2021  Volume 10, Issue 20

    Abstract: During the last years, studies investigating the intriguing association between immunodeficiency and autoimmunity led to the discovery of new monogenic disorders, the improvement in the knowledge of the pathogenesis of autoimmunity, and the introduction ... ...

    Abstract During the last years, studies investigating the intriguing association between immunodeficiency and autoimmunity led to the discovery of new monogenic disorders, the improvement in the knowledge of the pathogenesis of autoimmunity, and the introduction of targeted treatments. Autoimmunity is observed with particular frequency in patients with primary antibody deficiencies, such as common variable immunodeficiency (CVID) and selective IgA deficiency, but combined immunodeficiency disorders (CIDs) and disorders of innate immunity have also been associated with autoimmunity. Among CIDs, the highest incidence of autoimmunity is described in patients with autoimmune polyendocrine syndrome 1, LRBA, and CTLA-4 deficiency, and in patients with STAT-related disorders. The pathogenesis of autoimmunity in patients with immunodeficiency is far to be fully elucidated. However, altered germ center reactions, impaired central and peripheral lymphocyte negative selection, uncontrolled lymphocyte proliferation, ineffective cytoskeletal function, innate immune defects, and defective clearance of the infectious agents play an important role. In this paper, we review the main immunodeficiencies associated with autoimmunity, focusing on the pathogenic mechanisms responsible for autoimmunity in each condition and on the therapeutic strategies. Moreover, we provide a diagnostic algorithm for the diagnosis of PIDs in patients with autoimmunity.
    Language English
    Publishing date 2021-10-15
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm10204729
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Severe COVID-19 in pediatric age: an update on the role of the anti-rheumatic agents.

    Costagliola, Giorgio / Spada, Erika / Consolini, Rita

    Pediatric rheumatology online journal

    2021  Volume 19, Issue 1, Page(s) 68

    Abstract: Background: SARS-CoV-2 can induce an immune impairment and dysregulation, finally resulting in the massive release of inflammatory mediators (cytokine storm), strongly contributing to the pulmonary and systemic manifestations in severe coronavirus ... ...

    Abstract Background: SARS-CoV-2 can induce an immune impairment and dysregulation, finally resulting in the massive release of inflammatory mediators (cytokine storm), strongly contributing to the pulmonary and systemic manifestations in severe coronavirus disease 2019 (COVID-19). As a consequence, different drugs active on the immune system have been proposed for the treatment of the disease in adults.
    Role of the anti-rheumatic agents in children: Children are more likely to develop a mild disease course, as the severe form of COVID-19 is identified in less than 5% of the pediatric patients. Moreover, in children a peculiar disease phenotype, defined as multisystem inflammatory syndrome in children (MIS-C) is observed, representing the most severe expression of the inflammatory dysregulation caused by SARS-CoV-2. The limited experience with the severe pediatric COVID-19 and MIS-C does not allow conclusions about the role of the immune pharmacological approach, and therefore the treatment of these conditions represents a considerable clinical challenge. The use of chloroquine, hydroxychloroquine, and colchicine in the early disease stages is not sufficiently supported by evidence, and there is an increasing interest in the role of biologic agents, including anti-IL-1 and anti-IL-6 agents, in the prevention and treatment of the severe manifestations of COVID-19.
    Conclusion: The therapeutic approach to pediatric COVID-19 is multidisciplinary, and anti-rheumatic agents have a prominent role in severe disease. This paper reviews the rationale for the use of anti-rheumatic agents in pediatric COVID-19 and MIS-C and the clinical experience with the single drugs. Finally, the areas of potential improvement in the use of anti-rheumatic agents, including the optimization of the drug choice and the timing of administration, are discussed.
    MeSH term(s) Antirheumatic Agents/pharmacology ; Biological Factors/pharmacology ; COVID-19/complications ; COVID-19/immunology ; COVID-19/prevention & control ; Child ; Humans ; Systemic Inflammatory Response Syndrome/immunology ; Systemic Inflammatory Response Syndrome/prevention & control ; Treatment Outcome ; COVID-19 Drug Treatment
    Chemical Substances Antirheumatic Agents ; Biological Factors
    Language English
    Publishing date 2021-05-04
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2279468-2
    ISSN 1546-0096 ; 1546-0096
    ISSN (online) 1546-0096
    ISSN 1546-0096
    DOI 10.1186/s12969-021-00559-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Age-related differences in the immune response could contribute to determine the spectrum of severity of COVID-19.

    Costagliola, Giorgio / Spada, Erika / Consolini, Rita

    Immunity, inflammation and disease

    2021  Volume 9, Issue 2, Page(s) 331–339

    Abstract: Coronavirus disease 2019 (COVID-19), can present with a wide spectrum of severity. Elderly patients with cardiac, pulmonary and metabolic comorbidities are more likely to develop the severe manifestations of COVID-19, which are observed in less than 5% ... ...

    Abstract Coronavirus disease 2019 (COVID-19), can present with a wide spectrum of severity. Elderly patients with cardiac, pulmonary and metabolic comorbidities are more likely to develop the severe manifestations of COVID-19, which are observed in less than 5% of the pediatric patients. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is able to induce an immune impairment and dysregulation, finally resulting in the massive release of inflammatory mediators, strongly contributing to the pulmonary and systemic manifestations in COVID-19. In children, the immune dysregulation following SARS-CoV-2 can also be responsible of a severe disease phenotype defined as multisystem inflammatory syndrome in children. As the immune system undergoes a complex process of maturation from birth to adult age, differences in the immune and inflammatory response could have a significant impact in determining the spectrum of severity of COVID-19. Indeed, children show a higher ability to respond to viral infections and a reduced baseline pro-inflammatory state compared with elderly patients. Age and comorbidities contribute to disease severity through immune-mediated mechanisms, since they are associated with a chronic increase of pro-inflammatory mediators, and cause an enhanced susceptibility to develop an immune dysregulation following SARS-CoV-2 infection. Also the expression of ACE2, the receptor of SARS-CoV-2, varies with age, and is linked to the immune and inflammatory response through a complex, and not completely elucidated, network. This paper reviews the peculiar immunopathogenic aspects of COVID-19, with a focus on the differences between adult and pediatric patients.
    MeSH term(s) Adaptive Immunity ; Adolescent ; Adult ; Age Factors ; Age of Onset ; Aged ; Aging/immunology ; Angiotensin-Converting Enzyme 2/biosynthesis ; COVID-19/etiology ; COVID-19/immunology ; Child ; Child, Preschool ; Comorbidity ; Cytokine Release Syndrome/etiology ; Cytokine Release Syndrome/immunology ; Humans ; Immunity, Innate ; Infant ; Inflammation/immunology ; Lymphocyte Subsets/immunology ; Male ; Middle Aged ; Receptors, Virus/biosynthesis ; SARS-CoV-2 ; Severity of Illness Index ; Systemic Inflammatory Response Syndrome/etiology ; Systemic Inflammatory Response Syndrome/immunology ; Young Adult
    Chemical Substances Receptors, Virus ; ACE2 protein, human (EC 3.4.17.23) ; Angiotensin-Converting Enzyme 2 (EC 3.4.17.23)
    Language English
    Publishing date 2021-02-10
    Publishing country England
    Document type Comparative Study ; Journal Article ; Review
    ZDB-ID 2740382-8
    ISSN 2050-4527 ; 2050-4527
    ISSN (online) 2050-4527
    ISSN 2050-4527
    DOI 10.1002/iid3.404
    Database MEDical Literature Analysis and Retrieval System OnLINE

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