Primary Immunodeficiency

Overview

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.