Primary immunodeficiencies: Clinical spectrum and follow-up challenges

Area of Science:

• Immunology
• Hematology
• Oncology

Background:

• Primary immunodeficiencies (PIDs) are rare disorders with diverse clinical presentations, often involving recurrent infections.
• Comorbidities such as autoimmunity, lymphoproliferative disorders, and cancers can occur alongside PIDs.

Purpose of the Study:

• To analyze the demographic and clinical characteristics of adult patients with PID.
• To evaluate the relationship between laboratory values and comorbidities in PID patients.

Main Methods:

• Retrospective analysis of 55 adult PID patients undergoing immunoglobulin replacement therapy.
• Data collection included demographics, laboratory parameters, treatments, and clinical outcomes.

Main Results:

• Common Variable Immunodeficiency was the most frequent PID subtype.
• Respiratory and digestive issues were common initial complaints; 11 cancers were diagnosed in 9 patients.
• Elevated IgA and platelet levels were observed in patients who developed cancer. Four patients died during the study period.

Conclusions:

• Primary immunodeficiencies are multisystemic conditions requiring comprehensive management.
• Early diagnosis and timely treatment are crucial for improving patient morbidity and mortality.
• Enhanced awareness and interdisciplinary collaboration are vital for optimal PID care.