Immunodeficiencies: non-infectious manifestations

Area of Science:

• Immunology
• Genetics
• Internal Medicine

Background:

• Primary immunodeficiencies (PI) traditionally present with recurrent infections.
• Recent literature highlights a broader spectrum of non-infectious manifestations in PIs.
• Understanding these diverse presentations is crucial for timely diagnosis.

Purpose of the Study:

• To provide an updated review of non-infectious manifestations associated with primary immunodeficiencies.
• To emphasize the importance of recognizing these diverse clinical signs for improved patient outcomes.

Main Methods:

• A comprehensive literature search was conducted in the PubMed database.
• Included review articles published within the last five years in English, French, or Spanish.
• Keywords included allergy, inflammation, autoimmunity, lymphoproliferation, cancer, and various terms for immunodeficiency, excluding HIV.

Main Results:

• Non-infectious manifestations, including autoimmune cytopenias, inflammatory processes, lymphoproliferation, and malignancies, are common in PIs.
• Severe allergies (atopy, food allergy) are characteristic of certain PIs.
• Autoinflammatory disorders, a subtype of inborn immunity disorders, present with aseptic inflammation and recurrent fevers.

Conclusions:

• Suspicion of primary immunodeficiencies should extend beyond infectious conditions to include allergy, inflammation, autoimmunity, lymphoproliferation, and cancer.
• Recurrent, associated, severe, or treatment-resistant non-infectious symptoms, especially in young patients, warrant investigation for underlying immune defects.