Protein functionality as a potential bottleneck for somatic revertant variants

Journal of Allergy and Clinical Immunology, vol. 147, pp. 391–393.e8

Abstract

Somatic genome stability has been considered the rule, rather than the exception; yet, somatic mutations are driving factors in many diseases with a genetic background. Conversely, somatic reversion of germline mutations has been shown to mitigate pathogenicity by partially or completely restoring gene function. Such somatic revertant variants have been observed across a broad spectrum of immunodeficiencies and often result in atypical phenotypes that present a diagnostic and therapeutic challenge.

Authors 8

1. Fabian M. P. Kaiser

   Erasmus MC

   Affiliation as printed

   Department of Immunology, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Pediatrics, University Medical Center Rotterdam, Rotterdam, The Netherlands

   Department of Immunology, University Medical Center Rotterdam, Rotterdam, The Netherlands

   Department of Pediatrics, University Medical Center Rotterdam, Rotterdam, The Netherlands

2. İsmail Reisli

   Necmettin Erbakan University

   Affiliation as printed

   Department of Pediatric Immunology and Allergy, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey

3. Ingrid Pico‐Knijnenburg Aachen Laboratory for Pediatric Immunology Department of Pediatrics, Leiden University Medical Center

   Leiden University Medical Center

   Affiliation as printed

   Laboratory for Pediatric Immunology, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands

4. Anton W. Langerak

   Erasmus MC

   Affiliation as printed

   Department of Immunology, University Medical Center Rotterdam, Rotterdam, The Netherlands

5. François G. Kavelaars

   Erasmus MC

   Affiliation as printed

   Department of Hematology, University Medical Center Rotterdam, Rotterdam, The Netherlands

6. Hasibe Artaç

   Selçuk University

   Affiliation as printed

   Department of Pediatric Immunology and Allergy, Selçuk University Medical Faculty, Konya, Turkey

7. Hanna IJspeert

   Erasmus MC

   Affiliation as printed

   Department of Immunology, University Medical Center Rotterdam, Rotterdam, The Netherlands

8. Mirjam van der Burg corresponding Aachen Laboratory for Pediatric Immunology Department of Pediatrics, Leiden University Medical Center

   Leiden University · Leiden University Medical Center · Erasmus MC

   Affiliation as printed

   Department of Immunology, University Medical Center Rotterdam, Rotterdam, The Netherlands; Laboratory for Pediatric Immunology, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: m.van_der_burg@lumc.nl

   Department of Immunology, University Medical Center Rotterdam, Rotterdam, The Netherlands

   Laboratory for Pediatric Immunology, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands