Primary Immunodeficiency disorders: Genetic Conditions Impacting Immune System Function

Primary immune deficiencies (PIDs) are a group of genetic disorder saffecting development and function of immune system. Due to the poor function of immune system, children are more prone to develop infections, autoimmune diseases, and cancer. These conditions present a challenge for pediatricians because they can appear at any time from birth to adolescence, showing a variety of symptoms. Unfortunately, majority are still undiagnosed which lead to severe disease, high morbidity and mortality.

Patients with Primary immunodeficiency can live better lives and avoid more complications with early detection and patient-specific therapy. This can be accomplished by early detectionand prompt treatment through improving public access to high-quality primary immunodeficiency information.World Primary Immunodeficiency Awareness Week is an international healthcare initiative celebrated from April 22nd to April 29th, dedicated to increasing awareness of primary immunodeficiency diseases worldwide.

What are primary immune deficiency disorders?

Immunodeficiency diseases are rare genetic disorders that occur when the immune system is weakened or malfunctions. There are around 450 different forms of primary immunodeficiency, ranging in severity and affecting different types of immune cells like B-cells, T-cells, and granulocytes.

A child’s body struggles to fight off infections caused by microorganisms when they have primary immunodeficiency disease. Their skin, lungs, ears, intestines and other parts may often become infected, and these infections may not get cleared quickly.

It is possible that symptoms  show up anytime from newborn period to childhood age. Though, The majority of instances occur in infants or early childhood. symptoms do manifest in adulthood too.

When do parents need to worry about their child immunity? What are warning signs to identify an underlying defect in immunity?

1. Recurrent or prolonged fever
2. Recurrent ear infections, Serious sinus infections 
3. Recurrent pneumonias
4. Recurrent diarrheas, colitis
5. Recurrent, deep skin abscesses
6. Infections in internal organs like liver, brain, bone
7. Persistent thrush in mouth or fungal infection on skin 
8. Rash, eczema
9. Enlarged liver , spleen or lymph nodes
10. Need for repeated intravenous antibiotics to clear infections 
11. Failure of an infant to gain weight or grow normally. 
12. Development of autoimmune disorders at a young age
13. Unexplained swelling of hands, feet or neck
14. Deaths in the family ex, siblings, uncles, etc OR similar illness in family
15. Complications due to certain vaccines, ex BCG vaccin

How is primary immunodeficiency disease treated?

Treatment focuses on preventing and treating infections and replacing missing or defective immune system components . Exact treatment depends on the type of PID

1. Treating infections. Infections require rapid and aggressive treatment with antibiotics. Treatment might require a longer course of antibiotics than is usually prescribed. Infections that don’t respond may require hospitalization and intravenous (IV) antibiotics.
2. Preventing infections:Antimicrobials to prevent bacterial or fungal infections:
3. Drugs likeImmunoglobulin therapy, G-CSF, interferon gamma, fresh frozen plasma, etc depending on type of immune defect
4. Hematopoietic stem cell transplantation
5. Gene therapy

Precautions to take in children with Primary Immunodeficiency Disorders

• Follow doctor’s instructions on vaccinations
• Take medications regularly with good compliance

• Eating a nutritious, well-balanced diet
• Engaging in regular exercise to promote overall fitness
• Practicing good hygiene habits
• Avoiding crowded places and refraining from close contact with individuals exhibiting severe coughs or infections
• Not to neglect any new symptom and meet your doctor immediately.

By increasing awareness, we can improve the lives of those affected by these disorders through early detection. If your child experiences frequent, recurrent, or severe infections, or if infection.

fail to respond to treatment, consult a pediatric immunologist.Early detection and tailored treatment are essential for managing primary immunodeficiency disorders effectively , allowing children to lead active, healthy lives.