Important differences in the diagnostic spectrum of primary immunodeficiency in adults versus children

Abstract

Primary immunodeficiency disorders (PIDs) constitute a heterogeneous group of genetic disorders caused by defects in immunity, leading to recurrent infections, autoimmunity, lymphoproliferation and malignancies. Early diagnosis of PIDs is crucial for improving the quality of life in patients with PIDs while a delay in diagnosis, or inadequate treatment, results in an increased mortality and morbidity in affected individuals. Although most cases of PIDs present in children with recurrent and/or severe acute infections, some of the primary immune disorders are diagnosed during adulthood. Some common clues, both in children and adults, help physicians to diagnose PIDs; however, there are some specific clues to the diagnosis of PIDs for each group. This article reviews the important differences in the diagnostic spectrum of PIDs in adults versus children.

Keywords:

• adults
• children
• diagnosis
• primary immunodeficiency

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

• Most cases with primary immunodeficiency disorders (PIDs) are diagnosed in children presenting with recurrent and/or severe infections.

• Secondary immunodeficiencies should be excluded in adults with recurrent infections.

• The age of presentation of the disease could help focusing on certain forms of PID.

• Attention to specific signs and symptoms in both young and adult patients could help physicians to suspect PID, and early diagnosis and appropriate treatment are the keys to avoid clinical complications.

Notes

AH50: 50% hemolytic alternate pathway complement activity; CH50: 50% hemolytic complement activity; CMCC: Chronic mucocutaneous candidiasis; GLILD: Granulomatous-lymphocytic interstitial lung disease; LIP: Lymphocytic interstitial pneumonia; MSMD: Mendelian susceptibility to mycobacterial diseases; PID: Primary immunodeficiency disorder.