Autoimmune disorders associated with common variable immunodeficiency: prediction, diagnosis, and treatment

ABSTRACT

Introduction

Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. Due to the wide spectrum of the CVID manifestations, the differential diagnosis becomes complicated, ends in a diagnostic delay and increased morbidity and mortality rates. Autoimmunity is one of the important complications associated with CVID. While immunoglobulin replacement therapy has considerably decreased the mortality rate in CVID patients, mainly infection-related mortality, other complications such as autoimmunity appeared prevalent and, in some cases, life threatening.

Areas covered

In this article, genetics, responsible immune defects, autoimmune manifestations in different organs, and the diagnosis and treatment processes in CVID patients are reviewed, after searching the literature about these topics.

Expert opinion

Considering the many phenotypes of CVID and the fact that it remained undiagnosed until older ages, it is important to include various manifestations of CVID in the differential diagnosis. Due to the different manifestations of CVID, including autoimmune diseases, interdisciplinary collaboration of physicians from different fields is highly recommended, as discussed in the manuscript. Meanwhile, it is important to determine which patients could benefit from genetic diagnostic studies since such studies are not necessary for establishing the diagnosis of CVID.

KEYWORDS:

• Common variable immunodeficiency
• CVID
• autoimmunity
• autoimmune
• primary immunodeficiency
• PID
• inborn errors of immunity
• IEI
• genetic

Article highlights

• Common variable immunodeficiency appears with different manifestations that could result in a diagnostic delay until adult ages.

• Immunoglobulin replacement therapy has considerably reduced the mortality rate, which was mainly due to severe infections and sinopulmonary complications.

• Due to the improved survival rate of CVID patients, other associated complications appear more prevalent than before; for instance, autoimmune complications.

• The etiology of autoimmune complications is attributed to the immune dysregulation, abnormal tolerance mechanisms, and the genetic susceptibility to develop autoimmunity in the context of CVID.

• A proper differential diagnosis list and evaluating the patient according to the standard recommendations could facilitate the diagnosis and treatment processes.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.