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. 2024 Apr 23;216(2):120-131.
doi: 10.1093/cei/uxae008.

Clinical and experimental treatment of primary humoral immunodeficiencies

Anna Szaflarska  1   2 , Marzena Lenart  1   2 , Magdalena Rutkowska-Zapała  1   2 , Maciej Siedlar  1   2
Affiliations

Clinical and experimental treatment of primary humoral immunodeficiencies

Anna Szaflarska et al. Clin Exp Immunol. .

Abstract

Selective IgA deficiency (sIgAD), common variable immunodeficiency (CVID), and transient hypogammaglobulinemia of infancy (THI) are the most frequent forms of primary antibody deficiencies. Difficulties in initial diagnosis, especially in the early childhood, the familiar occurrence of these diseases, as well as the possibility of progression to each other suggest common cellular and molecular patomechanism and a similar genetic background. In this review, we discuss both similarities and differences of these three humoral immunodeficiencies, focusing on current and novel therapeutic approaches. We summarize immunoglobulin substitution, antibiotic prophylaxis, treatment of autoimmune diseases, and other common complications, i.e. cytopenias, gastrointestinal complications, and granulomatous disease. We discuss novel therapeutic approaches such as allogenic stem cell transplantation and therapies targeting-specific proteins, dependent on the patient's genetic defect. The diversity of possible therapeutics models results from a great heterogeneity of the disease variants, implying the need of personalized medicine approach as a future of primary humoral immunodeficiencies treatment.

Keywords: common variable immunodeficiency; immunodeficiency treatment; primary humoral immunodeficiency; selective IgA deficiency; transient hypogammaglobulinemia of infancy.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Graphical Abstract
Graphical Abstract
Figure 1.
Figure 1.
Comparison of the most common forms of primary antibody deficiencies: THI, CVID, and sIgAD, including main characteristic features and the possibility of progression to each other (arrows). Created with BioRender.com
Figure 2.
Figure 2.
B- and T-cell cellular abnmormalities observed in CVID, sIgAD, and THI patients. Created with BioRender.com
See this image and copyright information in PMC

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