Primary Immunodeficiency
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Primary immunodeficiency disorders, known under several names including primary immune disorders, primary immunodeficiency disorder (PIDD), or inborn errors of immunity (IEI), represent a group of conditions that impair the immune system’s ability to function correctly. These disorders make individuals more prone to infections and other health issues. Often present from birth, these conditions stem from either an absence of specific immune defenses or a malfunction within the immune system itself. This inherent vulnerability places affected individuals at a higher risk of being overwhelmed by pathogens that cause infections.
Researchers have identified more than 300 distinct types of primary immunodeficiency disorders to date. The range of severity among these conditions is broad; some are so subtle that they remain undetected until adulthood, while others are so pronounced that they are diagnosed almost immediately after a child is born. This variability underscores the complex nature of the immune system and the challenges in identifying and managing these disorders early on.
There are treatments available that can bolster the immune system for many suffering from primary immunodeficiency disorders. Advances in medical research are continually improving these treatments, offering hope for enhanced quality of life. The field is dynamic, with ongoing studies aimed at uncovering more effective therapies and interventions. For those living with these challenging conditions, these developments represent vital steps forward in managing their health and leading fuller, more active lives.
Symptoms
A common indication of primary immunodeficiency is the occurrence of infections that are more frequent, prolonged, or challenging to treat compared to those in individuals with typical immune systems. Moreover, individuals with primary immunodeficiency may be vulnerable to infections that would typically be rare in someone with a healthy immune system, known as opportunistic infections.
The symptoms of primary immunodeficiency disorders vary depending on the specific type and can differ among individuals.
Some common signs and symptoms include:
- Repeated or frequent occurrences of skin infections, meningitis, ear infections, sinus infections, pneumonia, or bronchitis.
- Infections and inflammation affecting internal organs.
- Blood-related conditions such as anemia or low platelet count.
- Digestive issues, including cramps, nausea, diarrhea, and loss of appetite.
- Delays in development and growth.
- Autoimmune conditions such as type 1 diabetes, rheumatoid arthritis, and lupus.
It is crucial that you speak with your doctor if you or your kid suffers from severe, recurrent, or frequent infections, or if illnesses do not improve with therapy. Early detection and treatment of primary immunological deficits can help avoid infections that could cause long-term problems.
Causes
Many primary immunodeficiency disorders are hereditary, passed down from one or both parents. These immune system deficiencies often arise from abnormalities in the genetic code, which acts as the blueprint for producing the body’s cells (DNA). With over 300 types of primary immunodeficiency disorders identified to date, ongoing research persists in discovering more. These disorders can be broadly classified into six groups based on the specific part of the immune system affected:
- Combination B and T cell deficiencies
- B cell (antibody) deficiencies
- T cell deficiencies
- Unknown (idiopathic)
- Phagocytes disorder
- Complement deficiencies
Risk factors
A family history of a primary immune deficiency disorder (PIDD) is the primary risk factor for developing such a condition, significantly increasing the chance of inheriting it. While PIDD can affect anyone, individuals with a biological family history are at a higher risk. Most people with primary immunodeficiencies are diagnosed before the age of 20, and the condition is more prevalent among individuals assigned male at birth (AMAB) compared to those assigned female at birth (AFAB). If you have been diagnosed with PIDD and are contemplating having children, it is strongly recommended to pursue genetic counseling to fully grasp the potential implications and risks for your offspring.
Diagnosis
Your doctor will inquire about your medical history, including any instances of illnesses, and whether there is a history of inherited immune system disorders among close relatives. Additionally, a physical examination will be conducted.
Tests utilized to diagnose an immune disorder include:
- Blood tests. Blood tests can assess whether you possess normal levels of infection-fighting proteins known as immunoglobulins and gauge the quantities of blood cells and immune system cells. Deviations from the standard range of certain cell counts in your blood may signal an immune system anomaly. Moreover, blood tests can evaluate the functionality of your immune system by measuring its ability to generate proteins that recognize and eliminate foreign invaders, such as bacteria or viruses, known as antibodies.
- Prenatal testing. Parents who have a child diagnosed with a primary immunodeficiency disorder may opt for testing during subsequent pregnancies to screen for specific immunodeficiency disorders. Samples of amniotic fluid, blood, or chorionic tissue are examined for abnormalities. In some cases, DNA testing is performed to detect genetic defects. These test results facilitate early preparation for treatment shortly after birth, if required.
- Flow cytometry. This test uses a specific type of laser to examine immune system cell samples.
Treatment
Management of primary immunodeficiency entails strategies aimed at preventing and addressing infections, enhancing immune function, and addressing the root cause of the immune dysfunction. Occasionally, primary immune disorders are associated with severe conditions such as autoimmune disorders or cancer, necessitating concurrent treatment for these conditions as well.
Treatment of infections
- Treating infections. Antibiotics must be used quickly and aggressively to treat infections. A lengthier course of antibiotics than is typically prescribed may be necessary for treatment. Intravenous (IV) antibiotics and hospitalization may be necessary for infections that don’t improve.
- Preventing infections. Certain individuals require prolonged antibiotic use to avoid respiratory infections and irreversible harm to their ears and lungs. Oral polio and measles-mumps-rubella vaccines, which contain live viruses, may not be administered to children with basic immunodeficiency.
- Therapy with immunoglobulins. The antibody proteins that make up immunoglobulin are essential for the immune system to combat infections. It can be placed under the skin (subcutaneous infusion) or injected into a vein via an IV line. Subcutaneous infusion is required once or twice a week, and treatment is required every few weeks.
Therapy aimed at restoring the immune system
- Stem cell transplantation. Stem cell transplantation, a potential permanent solution for various severe immunodeficiencies, involves transferring healthy stem cells to individuals with a malfunctioning immune system, enabling normal immune function. These stem cells can be sourced from bone marrow or cord blood collected at birth. For the procedure to succeed, the donor, often a parent or close relative, must be a close biological match to the recipient. Despite the compatibility, the success of stem cell transplants isn’t guaranteed. Treatment typically necessitates the elimination of existing immune cells through chemotherapy or radiation, temporarily increasing the recipient’s susceptibility to infections.
- Gene therapy. Gene therapy offers a treatment method for primary immunodeficiencies by extracting the patient’s stem cells, repairing the defective gene within these cells, and then reintroducing the corrected stem cells back into the patient through an intravenous infusion. This approach eliminates the need for a donor match since it uses the individual’s own cells. While currently applicable to only a select few immunodeficiencies, numerous clinical trials are in progress to expand its use to a wider range of conditions.
