Comparison of diagnostic criteria for common variable immunodeficiency disorder.

Rohan Ameratunga,Anthony Jordan,Charlotte Slade,Wikke Koopmans,Maia Brewerton,Richard Steele,See-Tarn Woon,David Gillis

doi:10.3389/fimmu.2014.00415

Abstract

Common variable immunodeficiency disorders (CVIDs) are the most frequent symptomatic primary immune deficiency condition in adults. The genetic basis for the condition is not known and no single clinical feature or laboratory test can establish the diagnosis; it has been a diagnosis of exclusion. In areas of uncertainty, diagnostic criteria can provide valuable clinical information. Here, we compare the revised European society of immune deficiencies (ESID) registry (2014) criteria with the diagnostic criteria of Ameratunga et al. (2013) and the original ESID/pan American group for immune deficiency (ESID/PAGID 1999) criteria. The ESID/PAGID (1999) criteria either require absent isohemagglutinins or impaired vaccine responses to establish the diagnosis in patients with primary hypogammaglobulinemia. Although commonly encountered, infective and autoimmune sequelae of CVID were not part of the original ESID/PAGID (1999) criteria. Also excluded were a series of characteristic laboratory and histological abnormalities, which are useful when making the diagnosis. The diagnostic criteria of Ameratunga et al. (2013) for CVID are based on these markers. The revised ESID registry (2014) criteria for CVID require the presence of symptoms as well as laboratory abnormalities to establish the diagnosis. Once validated, criteria for CVID will improve diagnostic precision and will result in more equitable and judicious use of intravenous or subcutaneous immunoglobulin therapy.

Highlights

Common variable immunodeficiency disorders (CVIDs) are the most frequent symptomatic primary immune deficiency disorder in adults
Some patients have symptoms dating back to early childhood [7], the hallmark of CVID is primary hypogammaglobulinemia, which is a consequence of late onset antibody failure (LOAF)
DIAGNOSIS OF CVID It can be very difficult to determine which patients are suffering from CVID and require intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG) replacement

Summary

INTRODUCTION

Common variable immunodeficiency disorders (CVIDs) are the most frequent symptomatic primary immune deficiency disorder in adults. The majority of adult patients with CVID have IgG levels below 5 g/l [5]. A subgroup of patients with severe T-cell defects, originally included within the spectrum of CVID, are defined separately as late onset combined immune deficiency (LOCID) [10]. DIAGNOSIS OF CVID It can be very difficult to determine which patients are suffering from CVID and require intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG) replacement. IVIG/SCIG treatment can substantially improve both quality of life [20] and longevity in patients with CVID. This underscores the importance of accurate diagnostic criteria for CVID [21].

Diagnostic criteria for CVID

Possible CVID

Findings

Other vaccines