Reprint

Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges

Edited by
July 2023
228 pages
  • ISBN978-3-0365-8308-2 (Hardback)
  • ISBN978-3-0365-8309-9 (PDF)

This book is a reprint of the Special Issue Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges that was published in

Medicine & Pharmacology
Public Health & Healthcare
Summary

This Special issue focuses of the most relevant advances in the field of inborn errors of immunity. Indeed, as immunology is rapidly progressing, with the constant discovery of new disease entities and the better characterization of molecular mechanisms and targeted therapies, a continuous update is mandatory for clinician and researchers. In this Issue, the non-infectious manifestations of inborn errors of immunity (such as autoimmunity, atopy, and lymphoproliferation) are deeply discussed, as well as the impact of the novel genetic sequencing techniques in the diagnostic approach. Moreover, some well-known disorders, including common variable immunodeficiency, are extensively reviewed and revisited in a modern way. Also, diseases of recent description, including some disorders of immune dysregulation and inborn errors of immunity associated with syndromes, are described. Finally, some of the papers of this Special Issue focus in a detailed way the molecular mechanisms leading to immunodeficiency and immune dysregulation, also opening the way for further clinical and preclinical studies.

As the expanding availability of immunological and genetic testing offers the opportunity to identify new disease entities and elucidate the function of new genes involved in the development and regulation of the immune response, we aim to present the most relevant innovations in this delicate field.

Format
  • Hardback
License
© 2022 by the authors; CC BY-NC-ND license
Keywords
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; selective IgA deficiency; severe combined immunodeficiency; X-linked agammaglobulinemia; anti-SARS-CoV-2 antibodies; COVID-19; primary immunodeficiency; 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; autoimmunity; copy number variations; array-CGH; CVID; IKZF1; IKAROS; de novo mutation; R162Q; immune response; SARS-CoV-2; heterologous vaccine; humoral response; T-cell response; allergy; autoimmunity; autoimmune lymphoproliferative syndrome; inborn errors of immunity; lymphoproliferation; malignancy; primary immunodeficiency; CVID; immunodeficiency; gastrointestinal infections; Giardia; giardiasis; refractory; treatment; immunology; immunogenetic; eosinophilic gastrointestinal disorders; eosinophilic esophagitis; inborn errors of immunity; immunodeficiency; unclassified primary antibody deficiency; primary antibody deficiency; transient hypogammaglobulinemia of infancy; children; inborn errors of immunity; TNFRSF13B mutations; common variable immunodeficiency; selective IgA deficiency; isolated IgM deficiency; n/a