Current infectious disease management challenges in inborn errors of immunity

Area of Science:

• Immunology
• Infectious Diseases
• Genetics

Background:

• Inborn errors of immunity (IEIs) are often underdiagnosed, leading to severe infectious complications.
• Chronic viral infections and opportunistic pathogens pose unique management difficulties in IEI patients.
• Intra-host viral evolution can result in treatment resistance and the emergence of novel viral strains.

Purpose of the Study:

• To review the diagnostic and management challenges of infectious diseases in patients with inborn errors of immunity.
• To highlight the impact of atypical infections, chronic viral infections, and emerging pathogens in IEI.
• To discuss current and needed management strategies for infections in this vulnerable population.

Main Methods:

• Literature review focusing on infectious complications in inborn errors of immunity.
• Analysis of challenges in diagnosing and managing infections, including viral, bacterial, and fungal pathogens.
• Examination of current treatment modalities and their limitations.

Main Results:

• Atypical infections, novel pathogens like Aichivirus, and underrecognized endemic infections (e.g., talaromycosis, leishmaniasis) are significant concerns.
• Chronic viral infections present management hurdles due to limited guidelines and intra-host evolution.
• Emerging infections like mpox and MERS-CoV pose unknown risks.
• Vaccinations, immunoglobulin replacement, and antimicrobial prophylaxis are key management tools, but face limitations.
• Antimicrobial resistance necessitates improved empiric strategies and research.

Conclusions:

• Infectious disease clinicians face substantial challenges in managing IEI patients.
• Improved diagnostic approaches, awareness of diverse pathogens, and optimized treatment strategies are essential.
• Further research is needed to address knowledge gaps regarding emerging infections and antimicrobial resistance in IEI.