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
. 2022 Jun;88(6):2500-2508.
doi: 10.1111/bcp.14509. Epub 2020 Aug 20.

Targeted pharmacologic immunomodulation for inborn errors of immunity

Keith A Sacco  1 , Michael Stack  1 , Luigi D Notarangelo  1
Affiliations
Free article
Review

Targeted pharmacologic immunomodulation for inborn errors of immunity

Keith A Sacco et al. Br J Clin Pharmacol. 2022 Jun.
Free article

Abstract

Inborn errors of immunity consist of over 400 known single gene disorders that may manifest with infection susceptibility, autoimmunity, autoinflammation, hypersensitivity and cancer predisposition. Most patients are treated symptomatically with immunoglobulin replacement, prophylactic antimicrobials or broad immunosuppression pertaining to their disease phenotype. Other than haematopoietic stem cell transplantation, the aforementioned treatments do little to alter disease morbidity or mortality. Further, many patients may not be transplant candidates. In this review, we describe monogenic disorders affecting leucocyte migration, disorders of immune synapse formation and dysregulation of immune cell signal transduction. We highlight the use of off-label small molecules and biologics mechanistically targeted to altered disease pathophysiology of such diseases.

Keywords: biologics; immunodeficiency; immunomodulation; inborn errors of immunity; jakinib; personalized medicine; rapamycin; targeted treatment.

PubMed Disclaimer

References

REFERENCES

    1. Rothenberg EV, Kueh HY, Yui MA, Zhang JA. Hematopoiesis and T-cell specification as a model developmental system. Immunol Rev. 2016;271(1):72-97.
    1. Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):24-64.
    1. Heimall JR, Hagin D, Hajjar J, et al. Use of genetic testing for primary immunodeficiency patients. J Clin Immunol. 2018;38(3):320-329.
    1. Janeway CA. Gamma globulin and Agammaglobulinemia. Clin Proc Child Hosp Dist Columbia. 1964;20:61-72.
    1. Gitlin D, Hitzig WH, Janeway CA. Multiple serum protein deficiencies in congenital and acquired agammaglobulinemia. J Clin Invest. 1956;35(11):1199-1204.

Publication types

LinkOut - more resources