Common variable immunodeficiency in adults: current diagnostic protocol and laboratory measures

Abstract

Common variable immunodeficiency (CVID) is one of the most common symptomatic primary immune defects in adults. Unfortunately, the diagnosis of CVID is often delayed because of its variable presentations and manifestations. Sincere efforts from experts in the field of primary immunodeficiency disorders all over the world have made us wiser regarding the clinical features, associated complications and long-term outcome of the disease. However, a systematic compilation of diagnostic protocols and laboratory measures is desirable. The present review highlights in brief the immunological and molecular defects characterizing adult CVID along with a comprehensive discussion on currently followed laboratory criteria and methods used to identify these cases. The article may benefit the clinicians, immunologists, infectious disease specialists, pulmonary medicine specialists, gastroenterologists, dermatologists and other physicians who are involved in the team management of the patients with CVID.

New diagnostic criteria for CVID

“…Our recent paper [2] on proposed new criteria for CVID was cited in the review by Kumar and Bhatia. A table (Box 2 in the article [1]) similar to our diagnostic criteria appears to have been attributed to us, along with diagnostic Categories A-D.…”

“…We read with interest the article published by Drs Kumar and Bhatia on common variable immune deficiency (CVID) [1]. Our recent paper [2] on proposed new criteria for CVID was cited in the review by Kumar and Bhatia.…”

“…Our original publication had eight criteria in Category C and patients were required to meet three criteria to qualify. In the Kumar publication [1], these were shortened to five (Box 2), which will significantly reduce the probability of patients with CVID meeting three of these criteria. Furthermore, we have not suggested assessing only responses to protein (T cell-dependent) vaccines as stated in the Kumar publication.…”

TLR9 stimulation of B-cells induces transcription of p53 and prevents spontaneous and irradiation-induced cell death independent of DNA damage responses. Implications for Common variable immunodeficiency

“…Protection of B-cells against irradiation is particularly relevant for patients diagnosed with primary immunodeficiencies affecting B-cells functions, such as Common variable immunodeficiency (CVID). Although malfunctioning T-cells and monocytes/macrophages may contribute to the immunodeficiency, the hypogammaglobulinemia characteristic of CVID patients is most often linked to dysfunctional B-cells [ 9 ]. It has been reported that CVID patients have increased levels of reactive oxygen species (ROS) and disturbed regulation of glutathione metabolism suggesting enhanced oxidative stress [ 10 ; 11 ].…”

Common variable immune deficiency in clinical practice

“…На основании критериев Европейского общества по изучению иммунодефицитов (ESID) диагноз ОВИН считают крайне вероятным при значительном снижении (более 2 стандартных отклонений от медианы) двух или трёх основных изотипов иммуноглобулинов (IgA, IgG, IgM) [7]. Хотя большинство случаев ОВИН носит спорадический характер, в 10-20% наблюдений отмечают семейные случаи, при этом у 80% пациентов выявляют аутосомно-доминантный тип наследования.…”