Cellular and Molecular Mechanisms of Severe Combined Immunodeficiencies (SCID): From Newborn Screening to Treatment Innovations
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Immunology".
Deadline for manuscript submissions: closed (30 August 2024) | Viewed by 276
Special Issue Editors
Interests: SCID; V(D)J recombination; newborn screening; B-cell development; genetics of inborn errors of immunity; DNA repair; antigen receptor repertoire
Special Issue Information
Dear Colleagues,
During the past 15 years, there have been remarkable innovations in the diagnosis and treatment of patients with severe combined immunodeficiency (SCID). Developments in next-generation sequencing (NGS) have resulted in a tremendous increase in the number of genetic diagnoses of SCID. Furthermore, important progress has been made in the field of flow cytometric immunophenotyping via standardization and the increasing resolution of subpopulations of immune cells, leading to better insights into the (in)completeness of the immune system. The introduction of newborn screening (NBS) for severe combined immunodeficiency (SCID) allows diagnosis in the early asymptomatic phase of the disease, leading to a higher chance of overall survival; innovations in the treatment of SCID, including optimization of the hematopoietic stem cell transplantation (HSCT) strategies and the development of gene therapy.
This Special Issue will be fully decicated to new developments and innovations in cellular and molecular mechanisms related to SCID. Additionally, we will focus on (early) diagostic or clinical studies from a biomedical perspective.
Dr. Mirjam D. Van Der Burg
Prof. Dr. Arjan C. Lankester
Guest Editors
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Keywords
- SCID
- newborn screening
- HSCT
- gene therapy
- gene editing
- monogenic defects
- mechanisms of disease
- T-cell development
- thymus
- in vitro artificial thymic organoid systems
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