Global Distribution of Common Variable Immunodeficiency (CVID) in the Light of the UNDP Human Development Index (HDI): A Preliminary Perspective of a Rare Disease

Abstract

Common variable immunodeficiency (CVID), although the most common primary immunodeficiency in humans, is a rare disease. We explored the spatial global distribution and country-wise prevalence of CVID, based on published data and those available from databases. As a country’s medical progress is linked to its technological and socio-economic developmental status, we expected that observed CVID prevalence was linked to human wellbeing. To assess this, we examined the correlation of observed CVID prevalence and the UNDP Human Development Index (HDI), which is a key measure of human development. Seventy-four data sets from 47 countries were available (most of them no older than 10 years). Analyses revealed that observed CVID prevalence ranged from 0.001 to 3.374 per 100,000 (mean 0.676±0.83) and was highest in “high” HDI countries (Spearman’s rho=0.757). Observed prevalence was particularly high in countries where immunodeficiencies are systematically documented in registers. In “low” and “middle” HDI countries, CVID awareness is extremely poor. Assuming that true CVID prevalence does not differ among countries, this study, though preliminary, provides evidence that the discrepancy between observed and (unknown) true prevalence can be clearly linked to the countries’ developmental status. As a potential alternative explanation, we briefly discuss the possibility that variation in CVID prevalence is related to human genetic lineage.

Lessons Learned From the Clinical Presentation of Common Variable Immunodeficiency Disorders: A Systematic Review and Meta-Analysis

“…The rates of serious comorbidities and resulting mortality of patients with CVID drastically exceed the respective rates in the general population, imposing a high disease burden to the individual patient (4,5). Although CVID is the most common symptomatic primary immunodeficiency (PID), it is still a rare disease with a greatly varying observed prevalence between countries, ranging in "industrialized countries" from 6.9/100,000 in Finland to 0.6/ 100,000 in Spain (6)(7)(8)(9)(10)(11)(12)(13)(14) and even lower observed prevalence rates (<0.5/100,000) in "developing" countries (15). Therefore, CVID has a low prevalence in primary care and general hospital settings, where non-immunologists have little knowledge of this disease.…”

Racial, Ethnic, and Socioeconomic Disparities in the Diagnosis and Management of Primary Immunodeficiencies

“…For example, it has been shown that developing countries have a lower prevalence of common variable immune deficiency. 9 This brings further support to the idea that socioeconomic factors and access to tertiary medical care may be limiting factors for the diagnosis of PAD globally.…”

Severe diabetic ketoacidosis and autoimmune pancreatitis with SIRS in an adolescent with LRBA deficiency – A rare complication of a common primary immunodeficiency disease

“…[ 4 ] Numerous studies have proven that immunological and genetic defects are involved in the pathophysiology of CVID, of which LRBA deficiency is associated with autoimmune manifestations and inflammatory bowel diseases. [ 3 4 ] LRBA is a cytosolic protein that regulates multiple cellular mechanisms such as vesicular trafficking, signal transduction, cytoskeletal assembly, transcription regulation, autophagy, and apoptosis. [ 5 ] Patients with CVID are paradoxically at an increased risk for autoimmune disorders including type 1 diabetes mellitus.…”

“…[ 1 2 ] The prevalence of CVID is 0.001 to 3.374 per 100,000 population globally. [ 3 ] CVID, although rare, is the most common primary immunodeficiency in humans, and awareness of this disease is extremely poor. Awareness about this condition among family physicians may help identify and refer children with recurrent infections early to the specialist so that CVID can be identified early and prevent further complications.…”