Abstract
The technological advances in diagnostics and therapy of primary immunodeficiency are progressing at a fast pace. This review examines recent developments in the field of inborn errors of immunity, from their definition to their treatment. We will summarize the challenges posed by the growth of next-generation sequencing in the clinical setting, touch briefly on the expansion of the concept of inborn errors of immunity beyond the classic immune system realm, and finally review current developments in targeted therapies, stem cell transplantation, and gene therapy.
Highlights
Perhaps more than other medical disciplines, the field of primary immunodeficiency is expanding rapidly thanks to recent advances in sequencing, gene editing tools, and the introduction of new biological drugs and small molecules that target specific checkpoints relevant to immunity, inflammation, and cancer
We focus on some of the most recent advances over the last 3 years in the diagnosis and therapy of human inborn error of immunity (IEI)
Recent advances in hematopoietic stem cell transplantation and gene therapy Since they are largely due to intrinsic defects of hematopoietic cells or their descendant, the mature blood cells, HSCT represents the treatment of choice for many IEIs
Summary
F1000 Faculty Reviews are written by members of the prestigious F1000 Faculty. They are commissioned and are peer reviewed before publication to ensure that the final, published version is comprehensive and accessible. The reviewers who approved the final version are listed with their names and affiliations. Any comments on the article can be found at the end of the article
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