Decoding Syndromic Immunodeficiencies: Bridging Genetics and Immune Dysfunctions

Syndromic immunodeficiencies represent a diverse group of genetic disorders characterized by the coexistence of immune system abnormalities with other systemic manifestations, such as developmental delays, endocrine dysfunctions, and organ-specific anomalies. These conditions often result from complex genetic mutations affecting multiple physiological pathways, leading to both primary immunodeficiency and a broader clinical syndrome. The study of syndromic immunodeficiencies is crucial not only for understanding the underlying mechanisms of immune dysfunction but also for developing targeted therapies that address the multifaceted nature of these disorders. As advancements in genomics and immunology continue to emerge, it is increasingly possible to delineate the genetic and molecular bases of these conditions, offering hope for personalized and precise medical interventions.

The goal of this Research Topic is to consolidate current research on known and novel syndromic immunodeficiencies, offering a comprehensive overview of recent advances in the diagnosis, pathogenesis, and treatment of these complex disorders. By bringing together studies from diverse disciplines, we seek to foster a deeper understanding of the multifactorial nature of these conditions and to explore innovative therapeutic strategies.

This Research Topic accepts Original Research, Systematic or Narrative Review, Clinical Trial, Case Report, Brief Research Report, Opinion. We welcome manuscripts focusing on, but not limited to, the following sub-topics:

• Novel genetic mutations

• Genotype-phenotype correlations

• Insights into the immune dysfunctions associated with specific syndromes

• Therapeutic approaches, including gene therapy, targeted immunomodulation, and personalized medicine

• Quality of life

Authors are encouraged to submit interdisciplinary work that bridges immunology with genetics, endocrinology, neurology, and other relevant fields, offering a comprehensive perspective on these syndromes.



Topic Editor Francesco Saettini received financial support from Pharming.
Topic Editor Antonio Marzollo received financial support from Pharming and Medac Pharma.
Topic Editor Maaike Kusters received financial support from Pharming and Takeda.
The other Topic Editors declare no competing interests with regard to the Research Topic subject.

Keywords: Interdisciplinary Approaches to Syndromic Immunodeficiencies, Pathogenesis of Syndromic Immunodeficiencies, Personalized Medicine in Syndromic Immunodeficiencies, Inborn errors of Immunity, Genotype-Phenotype Correlations in Syndromic Immunodeficiencies

Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.