Advances Series, Advances and Highlights In Primary Immunodeficiencies 2017

Publication date: Available online 29 August 2018

Source: Journal of Allergy and Clinical Immunology

Author(s): Javier Chinen, Morton J. Cowan

Abstract

This manuscript reviews selected topics in primary immunodeficiency diseases (PIDD) published in 2017. These include:

1. The role of follicular T cells in the differentiation of B cells and development of optimal antibody responses.

2. Impaired NFkB1 signaling in the pathogenesis of common variable immunodeficiency (CVID) revealing an association between impaired B cell maturation and development of inflammatory conditions.

3. Autoimmune and inflammatory manifestations in PIDDs in T and B cell deficiencies, as well as in neutrophil disorders.

4. Newly described gene defects causing PIDD including: exostosin-like 3 (EXTL3), TNF-α–induced protein 3 (TNFAIP3, A20), ARPC1B (actin-related protein 2/3 complex-subunit 1B), v-Rel avian reticuloendotheliosis viral oncogene homolog A (RELA), hypoxia upregulated 1 (HYOU1), BTB Domain And CNC Homolog 2 (BACH2), CD70 and CD55.

5. The use of rapamycin and a PI3K inhibitor, leniolisib, to reduce autoimmunity and regulate B cell function in the activated phosphoinositide 3-kinase δ syndrome (APDS).

6. Improved outcomes in hematopoietic stem cell transplantation (HSCT) for severe combined immunodeficiency (SCID) in the last decade with an overall two-year survival of 90%, in part due to early diagnosis by the implementation of universal newborn screening.

7. The demonstration of efficacy of lentiviral vector mediated gene therapy for ADA-SCID.

8. The promise of gene editing for PIDD using CRISPR/Cas9 and Zinc Finger Nuclease technology for SCID and chronic granulomatous disease (CGD).

9. The efficacy of thymus transplantation in Europe, although associated with an unexpected high incidence of autoimmunity.

Thus, remarkable progress in the understanding and management of PIDDs reflects the current interest in this area and continues to improve the care of immunodeficient patients.

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