Clinical phenotype classification for selective immunoglobulin A deficiency

Abstract

Selective immunoglobulin A deficiency (SIgAD) is the most common predominantly antibody deficiency, with a wide range of presentations from asymptomatic to severe manifestations. Although many studies have investigated different aspects of SIgAD, no study has yet presented a comprehensive classification of this disease. Based on clinical manifestation of patients and various immune abnormalities associated with SIgAD, this group of patients could be classified into five different phenotypes including asymptomatic, minor infectious, allergic, autoimmune and severe phenotypes. This classification aids physicians in identifying patients and in choosing appropriate management and treatment as well as homogenized groups for molecular and genetic studies.

Keywords:

• allergic
• asymptomatic
• autoimmune
• classification
• minor infectious
• selective immunoglobulin A deficiency
• severe phenotypes

Financial & competing interests disclosure

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.

No writing assistance was utilized in the production of this manuscript.

Key issues

• Based on heterogeneous clinical manifestation, individuals with selective immunoglobulin A deficiency (SIgAD) could be classified into various phenotype including asymptomatic, minor infection, allergy, autoimmunity and severe phenotypes.

• It is estimated that a significant proportion of individuals with SIgAD are asymptomatic (60%), while symptomatic patients have allergy (15%), minor infection (12%), autoimmunity (11%) and severe (2%).

• Classification of patients with SIgAD could aid physicians in severe form of disease determining the clinical prognosis, better management and treatment as well as finding the underlying genetic defects.

• Serum IgA level, as well as SIgAD prevalence, would be influenced by multiple genetic and environmental factors.

• The presence of SIgAD had been significantly higher in men, while serum IgA level had been increasing in both males and females with increasing age.

Notes