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  1. Article ; Online: What a Clinician Needs to Know About Genome Editing: Status and Opportunities for Inborn Errors of Immunity.

    Mudde, Anne C A / Kuo, Caroline Y / Kohn, Donald B / Booth, Claire

    The journal of allergy and clinical immunology. In practice

    2024  Volume 12, Issue 5, Page(s) 1139–1149

    Abstract: During the past 20 years, gene editing has emerged as a novel form of gene therapy. Since the publication of the first potentially therapeutic gene editing platform for genetic disorders, increasingly sophisticated editing technologies have been ... ...

    Abstract During the past 20 years, gene editing has emerged as a novel form of gene therapy. Since the publication of the first potentially therapeutic gene editing platform for genetic disorders, increasingly sophisticated editing technologies have been developed. As with viral vector-mediated gene addition, inborn errors of immunity are excellent candidate diseases for a corrective autologous hematopoietic stem cell gene editing strategy. Research on gene editing for inborn errors of immunity is still entirely preclinical, with no trials yet underway. However, with editing techniques maturing, scientists are investigating this novel form of gene therapy in context of an increasing number of inborn errors of immunity. Here, we present an overview of these studies and the recent progress moving these technologies closer to clinical benefit.
    MeSH term(s) Humans ; Gene Editing/methods ; Genetic Therapy/methods ; Animals ; CRISPR-Cas Systems ; Agammaglobulinemia/genetics ; Agammaglobulinemia/therapy ; Severe Combined Immunodeficiency/genetics ; Severe Combined Immunodeficiency/therapy ; Severe Combined Immunodeficiency/immunology ; Hematopoietic Stem Cell Transplantation
    Language English
    Publishing date 2024-01-19
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2843237-X
    ISSN 2213-2201 ; 2213-2198
    ISSN (online) 2213-2201
    ISSN 2213-2198
    DOI 10.1016/j.jaip.2024.01.019
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Evolution of Our Understanding of XIAP Deficiency.

    Mudde, Anne C A / Booth, Claire / Marsh, Rebecca A

    Frontiers in pediatrics

    2021  Volume 9, Page(s) 660520

    Abstract: X-linked inhibitor of apoptosis (XIAP) deficiency is a rare inborn error of immunity first described in 2006. XIAP deficiency is characterised by immune dysregulation and a broad spectrum of clinical manifestations, including haemophagocytic ... ...

    Abstract X-linked inhibitor of apoptosis (XIAP) deficiency is a rare inborn error of immunity first described in 2006. XIAP deficiency is characterised by immune dysregulation and a broad spectrum of clinical manifestations, including haemophagocytic lymphohistiocytosis (HLH), inflammatory bowel disease (IBD), hypogammaglobulinemia, susceptibility to infections, splenomegaly, cytopaenias, and other less common autoinflammatory phenomena. Since the first description of the disease, many XIAP deficient patients have been identified and our understanding of the disease has grown. Over 90 disease causing mutations have been described and more inflammatory disease manifestations, such as hepatitis, arthritis, and uveitis, are now well-recognised. Recently, following the introduction of reduced intensity conditioning (RIC), outcomes of allogeneic haematopoietic stem cell transplantation (HSCT), the only curative treatment option for XIAP deficiency, have improved. The pathophysiology of XIAP deficiency is not fully understood, however it is known that XIAP plays a role in both the innate and adaptive immune response and in immune regulation, most notably through modulation of tumour necrosis factor (TNF)-receptor signalling and regulation of NLRP3 inflammasome activity. In this review we will provide an up to date overview of both the clinical aspects and pathophysiology of XIAP deficiency.
    Language English
    Publishing date 2021-06-17
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2021.660520
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Eosinophilic esophagitis: published evidences for disease subtypes, indications for patient subpopulations, and how to translate patient observations to murine experimental models.

    Mudde, Anne C A / Lexmond, Willem S / Blumberg, Richard S / Nurko, Samuel / Fiebiger, Edda

    The World Allergy Organization journal

    2016  Volume 9, Page(s) 23

    Abstract: Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder of the esophagus and commonly classified as a Th2-type allergy. Major advances in our understanding of the EoE pathophysiology have recently been made, but clinicians struggle with highly ... ...

    Abstract Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder of the esophagus and commonly classified as a Th2-type allergy. Major advances in our understanding of the EoE pathophysiology have recently been made, but clinicians struggle with highly unpredictable therapy responses indicative of phenotypic diversity within the patient population. Here, we summarize evidences for the existence of EoE subpopulations based on diverse inflammatory characteristics of the esophageal tissue in EoE. Additionally, clinical characteristics of EoE patients support the concept of disease subtypes. We conclude that clinical and experimental evidences indicate that EoE is an umbrella term for conditions that are unified by esophageal eosinophilia but that several disease subgroups with various inflammatory esophageal patterns and/or different clinical features exist. We further discuss strategies to study the pathophysiologic differences as observed in EoE patients in murine experimental EoE. Going forward, models of EoE that faithfully mimic EoE subentities as defined in humans will be essential because mechanistic studies on triggers which regulate the onset of diverse EoE subpopulations are not feasible in patients. Understanding how and why different EoE phenotypes develop will be a first and fundamental step to establish strategies that integrate individual variations of the EoE pathology into personalized therapy.
    Language English
    Publishing date 2016-07-15
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2581968-9
    ISSN 1939-4551
    ISSN 1939-4551
    DOI 10.1186/s40413-016-0114-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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