Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2020 Sep 15;91(11-S):e2020010.
doi: 10.23750/abm.v91i11-S.10314.

Update in Primary Immunodeficiencies

Lucia Leonardi  1 , Beatrice Rivalta  2 , Caterina Cancrini  2 , Elena Chiappini  3 , Claudio Cravidi  4 , Carlo Caffarelli  5 , Sara Manti  6 , Mauro Calvani  7 , Alberto Martelli  8 , Michele Miraglia Del Giudice  9 , Marzia Duse  10 , Gian Luigi Marseglia  11 , Fabio Cardinale  12
Affiliations
Review

Update in Primary Immunodeficiencies

Lucia Leonardi et al. Acta Biomed. .

Abstract

Primary immunodeficiencies (PIDs) are inherited disorders classically characterized by increased susceptibility to infections. Nevertheless, in the last two decades, genomic analysis (such as NGS) coupled with biochemical and cellular studies led to a more accurate definition for a growing number of novel genetic disorders associated with PIDs. This revealed new aspects of the immune system and its function and regulation within these diseases. In particular, it has been clarified that the clinical features of PIDs are much broader that originally thought and extend beyond an increased susceptibility to infections. More specifi- cally, immune dysregulation is very often described in novel characterized PIDs and can lead to multiple autoimmune diseases, lymphoproliferation and malignancies. If not promptly diagnosed, these could negatively impact patient's prognosis. The aim of this review is to increase the awareness of recently discovered PIDs, characterized predominantly by immune dysregulation phenotypes. Findings highlighted in this review suggest screening for immunodeficiency in patients with lymphoproliferation or early onset/multiple autoimmune diseases. Prompt diagnosis would potentially allow most successful treatment and clinical outcome for patients with PIDs.

PubMed Disclaimer

Conflict of interest statement

Each author declares that he or she has no commercial associations (e.g. consultancies, stock ownership, equity interest, patent/licensing arrangement etc.) that might pose a conflict of interest in connection with the submitted article

Figures

Figure 1.
Figure 1.
A) Central tolerance develops during early maturation of T and B lymphocytes in the Thymus and bone marrow respectively. Peripheral tolerance leads to avoidance of autoimmunity through apoptosis, anergy or suppression of autoreactive cells. B) The identification of dysregulated pathways or mutated receptors in certain immunodeficiencies has allowed the development of specific targeted therapies for the treatment of PIDs
See this image and copyright information in PMC

References

    1. O’Sullivan MD, Cant AJ. The 10 warning signs: a time for a change? Curr Opin Allergy Clin Immunol. 2012;12:588–594. - PubMed
    1. Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: A new paradigm is needed for the 21st century. Ann N Y Acad Sci. 2011;1238:7–14. - PubMed
    1. Fischer A, Provot J, Jais J-P, Alcais A, et al. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2017;140:1388–1393. e8. - PubMed
    1. Delmonte OM, Castagnoli R, Calzoni E, Notarangelo LD. Inborn errors of immunity with immune dysregulation: from bench to bedside. Front Pediatr. 2019;7:353. - PMC - PubMed
    1. Delmonte OM. Immunodeficiency and disorders of immune dysregulation. Pediatr Allergy Immunol. 2020;31:8–10. - PubMed