Primary Immunodeficiency Disorders

Primary immunodeficiencies are a group of rare diseases in which the structure or function of a child’s immune system (defense system) is impaired. As a result, the body’s defense capacity is weakened, making the child more susceptible to recurrent, severe, or atypical infections, as well as autoimmune or oncological diseases. Early detection and treatment ensure normal growth and development, while delayed diagnosis may lead to multiple complications.

Warning signs that should concern parents include:

• Recurrent episodes of otitis or sinusitis
• Frequent pneumonias
• Need for prolonged courses of antibiotics without full effectiveness
• Growth or weight retardation
• Recurrent skin or organ abscesses
• Fungal infections of the oral cavity or skin
• Family history of unexplained deaths in early childhood
• Consanguineous marriages

These disorders are diagnosed based on detailed medical history, complete blood count (with particular attention to the number and subtypes of leukocytes), measurement of immunoglobulin levels and immune status, as well as genetic testing. Early diagnosis is critically important.

Treatment depends on the type of immunodeficiency. Children with these conditions may receive nutritional and general lifestyle support, prophylactic antibacterial and antifungal therapy, intravenous or subcutaneous immunoglobulin replacement therapy, and in some cases, bone marrow transplantation.