Protecting Your Child: Understanding Primary Immunodeficiency Disorders

Dr. Sagar Bhattad, Consultant - Paediatric Immunology & Rheumatology, Aster CMI Hospital, Bangalore

At birth, our body's defense system, (the immune system), fights germs with white blood cells and antibodies. Genes guide these cells. In some children, however, genetic problems weaken this system, making them prone to infections requiring long hospital stays. These are Primary Immune Deficiencies (PIDs), a group of over 500 genetic diseases.

If your child is falling sick often and is on frequent antibiotic use, it can be indicative of underlying primary immunodeficiency disorders (PID). These genetic conditions can affect multiple siblings and can significantly impact a child's health.

Prenatal (before birth) immune defense is crucial for a strong immune system in the newborn. Maternal antibodies passed during pregnancy provide foundational protection, allowing the infant's immune system to mature and develop its defenses.

However, there is a growing concern regarding the rising prevalence of primary immunodeficiency disorders. Once considered rare, these conditions are being diagnosed with increasing frequency.

It is estimated that before 2004, less than 50 cases of immune deficiency were identified nationally. This number has risen dramatically, with an estimated 300–500 cases diagnosed in 2014 and a further increase to 2,500-3,000 cases projected in 2024. This represents a staggering 300-400% increase over the past decade.

Tips to Diagnose Immunodeficiency Disorders

· Early diagnosis of primary immunodeficiency disorders (PIDs) is crucial for timely and appropriate medical intervention. This allows for the implementation of targeted treatment strategies to improve a child's health and quality of life.

· Regular well-child visits with a pediatrician are essential. These visits provide an opportunity to monitor a child's growth and development, assess for potential health concerns, and ensure adherence to recommended immunization schedules.

· A comprehensive family history is a valuable tool in identifying potential risks for PIDs in children. Knowing about any family members with immune disorders can help healthcare providers determine the need for early screening measures.

· Parental education regarding common signs and symptoms of PID is crucial. While some symptoms, such as runny nose or cough, are common in childhood illnesses, persistent or recurrent infections, particularly involving specific organ systems, may warrant further investigation.

· Recurrent or severe infections of the respiratory tract (sinuses, ears, lungs)

• Chronic diarrhea or persistent skin infections
• Delayed wound healing
• Unexplained weight loss or failure to thrive
• Lymphadenopathy (enlarged lymph nodes)
• Autoimmune cytopenias (low blood cell counts)
• Early recognition of these signs and symptoms, followed by a thorough evaluation, is essential for the diagnosis and management of PIDs.

How do you find out if your child has pediatric immunology issues?

Physical examination plays a crucial role in identifying potential PID signs. This may reveal physical abnormalities such as lymphadenopathy (enlarged lymph nodes) or a history of recurrent infections in specific organ systems.

Laboratory testing provides further diagnostic information. This typically involves assessing various aspects of the immune system, including:

• Complete blood count (CBC): Evaluates white blood cell count, which can be abnormal in some PIDs.
• Immunoglobulin (Ig) levels: Measures the different types of antibodies produced by the immune system.
• Immune cell function testing: Assesses the functionality of various immune cells in response to specific stimuli.

How to reduce pediatric immunology risks:

Multifaceted educational initiatives targeting parents, caregivers, and healthcare professionals are crucial for improving outcomes in children with PIDs. These initiatives should focus on:

· Getting vaccinated is still very important for keeping kids healthy. Vaccines effectively prevent a range of infectious diseases, significantly reducing morbidity and mortality in children.

• Raising awareness about the warning signs of PID: This includes educating the public about symptoms beyond frequent infections, such as delayed wound healing, persistent diarrhea, or unexplained weight loss.
• Highlighting the importance of early evaluation and referral: Early referral to a paediatric immunologist allows for timely diagnosis and implementation of appropriate treatment strategies.
• Providing information on available diagnostic tools and treatment options: This empowers parents and caregivers to make informed decisions regarding their child's healthcare.

It's important to note that complete avoidance of allergies is not a realistic or necessarily beneficial approach for managing immunological issues.

Monitoring growth and development remains a cornerstone of paediatric care. Children who demonstrate developmental delays or fail to meet expected milestones may require further investigation, which could include evaluation for potential PID.