Understanding Primary Immunodeficiency

Primary Immunodeficiencies (PID) are a diverse group of rare disorders, most often caused by genetic mutations that impair the immune system. More than 400 types of PID have been described, each classified depending on which part of the immune system is affected. Because of this variability, diagnosing this condition is a significant challenge.

The Role of the Immune System

The immune system protects the body against infections. When it does not function properly, people with PID become highly susceptible to frequent and severe infections. The list of known genetic mutations causing Primary Immune Deficiencies continues to expand, with some so rare they have been documented in only a few patients worldwide.

Primary vs. Secondary Immune Deficiencies

Unlike Secondary Immune Deficiencies, which are acquired later in life, PIDs are usually present from birth. Symptoms are often recognized in infants and children, but milder forms may go undiagnosed until adulthood.

Symptoms of Primary Immunodeficiency

The signs of PID can vary greatly depending on the type and severity of the disorder. Common symptoms include:

• Frequent, severe, or unusual infections

• Recurrent pneumonia, bronchitis, or sinus infections

• Poor wound healing or persistent skin infections

• Slower growth and developmental delays in children

• Autoimmune disorders or chronic inflammation

• Family history of immune deficiencies

The severity can range from:

• Severe forms, which may cause life-threatening complications in early childhood if untreated

• Milder forms, which may present with vague, nonspecific symptoms and remain undiagnosed until adulthood

How Is PID Diagnosed?

Diagnosis of Primary Immune Deficiencies requires a combination of clinical evaluation and laboratory testing, such as:

• Complete blood count with differential

• Measurement of immunoglobulin levels (IgG, IgA, IgM, IgE)

• Targeted immunological tests, depending on initial results

• Genetic testing, often essential for confirming the diagnosis and guiding treatment

Why Accurate Diagnosis Matters

Identifying which part of the immune system is defective is critical for defining an effective treatment plan and improving outcomes for patients with PID.

References

• Primary immunodeficiency – Symptoms & causes – Mayo Clinic
• Broszura Stowarzyszenia na Rzecz Osób z Niedoborami Odporności „Immunoprotect” – Klasyfikacja pierwotnych niedoborów odporności
  
• Broszura Stowarzyszenia na Rzecz Osób z Niedoborami Odporności „Immunoprotect” – Diagnoza
  
• European Primary Immune Deficiency Consensus Conference Report
  
• Kotyla, P.J. Primary immune deficiencies – an introduction to autoimmune diseases. Forum Reumatologiczne 2015, Vol. 1, No. 1, 30–37.
• Głodkowska-Mrówka, E., Stokłosa, T. Immunodeficiencies [in:] Lasek, W. et al. (eds.) Immunology. PWN Scientific Publishing, 2017.