Clinical, Pathological and Precise Treatment of Immunodeficiency in Children

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Omics/Informatics".

Deadline for manuscript submissions: closed (10 December 2021) | Viewed by 135

Special Issue Editors


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Guest Editor
1. Laboratorio Immunodeficienze Primitive e Terapie Cellulari, Università degli Studi di Trieste, 34127 Trieste, Italy
2. Institute for Maternal and Child Health, IRCCS Burlo Garofolo, 34137 Trieste, Italy
Interests: inborn errors of immunity; primary immunodeficiencies; autoinflammatory diseases; inflammation; immunotherapy

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Guest Editor
Department of Allergology, Rheumatology and Clinical Immunology, University Medical Centre Ljubljana, Bohoriceva 20, Sl-1525 Ljubljana, Slovenia
Interests: autoinflammatory diseases; systemic lupus erythematosus; antiphospholipid syndrome; pediatric rheumatology; autoimmunity; rheumatology
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Special Issue Information

Dear Colleagues,

Primary immunodeficiencies have been increasingly associated with autoimmune, lymphoproliferative, and neoplastic features, in addition to infections. Inborn errors of immunity (IEI) has been proposed as a wider definition to encompass such complexity. Based on this new paradigm, several IEIs have been described that may be diagnosed in subjects presenting with early onset autoimmune or with inflammatory disorders or with various combinations of immune-mediated manifestations even in adults. Of note, several patients with IEI may present an overlap of clinical features pertaining to distinct medical specialties, such as rheumatology, gastronenterology, hematology. Furthermore, in the last two decades, precision medicines have been proposed to treat an increasing number of IEIs. Thus, a widened awareness of these development is needed to allow a prompt diagnosis and proper treatment in many patients.

Furthermore, experiences with precision medicine in monogenic IEIs, together with better knowledge of the involved molecular pathways, may reflect on the development of improved therapeutics for other immune-mediated disorders.

This Special Issue will focus on new developments around precision medicines in IEIs; improved awareness of druggable IEIs in pediatrics and in adult medicine specialties; omics characterization of the involved molecular pathways in monogenic IEIs and in multifactorial immune-mediated disease; and the development of novel molecularly targeted treatments for IEIs.

Prof. Dr. Alberto Tommasini
Prof. Dr. Tadej Avĉin
Guest Editors

Manuscript Submission Information

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Published Papers

There is no accepted submissions to this special issue at this moment.
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