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Review
. 2020 Mar 19:9:F1000 Faculty Rev-194.
doi: 10.12688/f1000research.21553.1. eCollection 2020.

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment

Giorgia Bucciol  1   2 , Isabelle Meyts  1   2
Affiliations
Review

Recent advances in primary immunodeficiency: from molecular diagnosis to treatment

Giorgia Bucciol et al. F1000Res. .

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.

Keywords: hematopoietic stem cell transplantation; inborn error of immunity; next generation sequencing; primary immunodeficiency; targeted therapy.

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Conflict of interest statement

Competing interests: IM is supported by a CSL Behring Chair in Primary Immunodeficiency (paid to institution). GB declares that she has no competing interests.No competing interests were disclosed.No competing interests were disclosed.No competing interests were disclosed.

References

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    2. F1000 Recommendation

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