Symptoms, Diagnosis, Treatment & Management
A primary immunodeficiency disease is a genetic or inherited disorder resulting in a poorly functioning immune system (PIDD).
Researchers have identified more than 150* different kinds of PIDD.
The immune system is composed of white blood cells. These cells are made in the bone marrow and travel through the bloodstream and lymph nodes. They protect and defend us against infection from bacteria, viruses and fungi.
In the most common PIDDs, different forms of these cells are missing. This creates a pattern of repeated infections, severe infections and/or infections that are unusually hard to cure. Specific PIDDs can affected certain organ systems or tissues. There can be specific facial features, growth failure or external body changes that may indicate a specific PIDD.
In some instances, PIDD are connected to autoimmune disorders or other diseases.
Primary Immunodeficiency Disease Symptoms & Diagnosis
Serious PIDDs typically become apparent in infancy. In milder forms, it often takes a pattern of recurrent infections before PIDD is suspected. In some cases, a PIDD is not diagnosed until people reach their 20s and 30s.
Important signs that may indicate a PIDD include:
- Recurrent, unusual or difficult to treat infections
- Poor growth or loss of weight
- Recurrent pneumonia, ear infections or sinusitis
- Multiple courses of antibiotics or IV antibiotics necessary to cure infections
- Recurrent deep infections (abscesses) of the organs or skin
- A family history of PIDD
- Swollen lymph glands or an enlarged spleen
- Autoimmune disease
Some immunodeficiency disorders are not primary (hereditary or genetic). A secondary immune deficiency disease occurs when the immune system is compromised due to an external factor such as HIV, chemotherapy, severe burns or malnutrition.
Primary Immunodeficiency Disease Treatment & Management
Research in primary immunodeficiency is making great strides, improving treatment options and enhancing the quality of life for most people with these complex conditions.
If you or your child have symptoms of these sometimes critical conditions, you want the best care available. An allergist / immunologist or a clinical immunologist has specialized training and expertise to accurately diagnose and coordinate a treatment plan for PIDD.
Geha R, Notarangelo L, Casanova JL, Conley ME, Chapel ME, Fischer A, Hammerstrom L, Nonoyama S, Ochs H, Puck J, Roifman C, Seger R, Wedgwood J. Primary Immunodeficiency Diseases: An Update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting. Journal of Allergy and Clinical Immunology 2007; 120(4):776-794.