Primary Immunodeficiency Diseases in Children: Symptoms, Diagnosis, and Management

Primary Immunodeficiency Diseases (PIDs) are a group of rare, inherited disorders where the immune system is either absent or underdeveloped, leaving children susceptible to recurrent infections. Early identification and treatment are essential to reduce complications and improve outcomes. 

• Age of Onset: Birth to 6 months.

• Clinical Symptoms: Chronic diarrhea, pneumonia, failure to thrive, recurrent fungal and viral infections.

• Clinical Features: Severe deficiency of T and B lymphocytes.

• Incidence/Prevalence: ~1 in 50,000–100,000 live births globally.

• Diagnostic Tests: T-cell receptor excision circles (TREC) assay, genetic testing.

• Management: Bone marrow transplant (curative); gene therapy (experimental).

• Prevention: Prenatal genetic testing in families with a history of SCID.

• Age of Onset: 6–12 months.

• Clinical Symptoms: Frequent ear infections, sinusitis, and pneumonia.

• Clinical Features: Absence of mature B cells, leading to low immunoglobulin levels.

• Incidence/Prevalence: 1 in 200,000 live births (male predominance).

• Diagnostic Tests: Serum immunoglobulin levels, flow cytometry for B cells.

• Management: Lifelong immunoglobulin replacement therapy.

• Prevention: Early identification and prophylactic antibiotics for high-risk children.

• Age of Onset: Infancy to early childhood.

• Clinical Symptoms: Persistent skin infections, abscesses, pneumonia, swollen lymph nodes.

• Clinical Features: Defective neutrophil function, leading to poor pathogen killing.

• Incidence/Prevalence: 1 in 200,000 live births worldwide.

• Diagnostic Tests: Nitroblue tetrazolium (NBT) test, dihydrorhodamine (DHR) flow cytometry.

• Management: Antibiotic prophylaxis, antifungal therapy, stem cell transplant (severe cases).

• Prevention: Early screening in siblings of affected children.

• Age of Onset: Infancy to early childhood.

• Clinical Symptoms: Recurrent respiratory infections, chronic diarrhea, opportunistic infections.

• Clinical Features: High IgM levels with low IgG, IgA, and IgE levels.

• Incidence/Prevalence: Rare, ~1 in 1,000,000 live births.

• Diagnostic Tests: Immunoglobulin level testing, CD40L mutation analysis.

• Management: Immunoglobulin replacement therapy, bone marrow transplant.

• Prevention: Genetic counseling for at-risk families.

• Age of Onset: Childhood or adolescence.

• Clinical Symptoms: Mild infections of the respiratory and gastrointestinal tract; may be asymptomatic.

• Clinical Features: Low or absent serum IgA levels.

• Incidence/Prevalence: 1 in 500–700 children (most common PID).

• Diagnostic Tests: Serum immunoglobulin levels.

• Management: Symptom-based treatment; antibiotics for infections.

• Prevention: Avoidance of blood products without IgA testing.

• Age of Onset: Infancy.

• Clinical Symptoms: Congenital heart defects, recurrent infections, facial abnormalities.

• Clinical Features: Thymic hypoplasia leading to low T-cell production.

• Incidence/Prevalence: 1 in 4,000 live births.

• Diagnostic Tests: FISH (fluorescence in situ hybridization) for 22q11.2 deletion.

• Management: Thymus transplant (rare), calcium supplements, cardiac surgery.

• Prevention: Prenatal genetic testing for at-risk families.

• Age of Onset: Infancy.

• Clinical Symptoms: Eczema, recurrent infections, easy bruising, prolonged bleeding.

• Clinical Features: Combined immunodeficiency with platelet dysfunction.

• Incidence/Prevalence: ~1 in 100,000 live births (male predominance).

• Diagnostic Tests: Low platelet count, WAS gene mutation testing.

• Management: Bone marrow transplant, immunoglobulin replacement therapy.

• Prevention: Early genetic counseling and testing.

• Blood Tests: Complete blood count (CBC), immunoglobulin levels, T and B cell counts.

• Functional Tests: Neutrophil oxidative burst assay, lymphocyte proliferation tests.

• Genetic Testing: Identifies specific mutations (e.g., ADA for SCID, BTK for XLA).

• Vaccination: Live vaccines are contraindicated in some PIDs; consult with a specialist.

• Infection Control: Encourage frequent handwashing and avoid exposure to sick individuals.

• Proactive Care: Ensure regular follow-ups with immunologists and adhere to treatments like immunoglobulin therapy.

• Healthy Lifestyle: Balanced nutrition and adequate sleep to support overall health.

Explore articles like “Boosting Immunity in Kids” and “Recognizing Pediatric Genetic Disorders” on the TPZ app.

Primary Immunodeficiency Diseases can significantly impact a child’s life, but with timely diagnosis and proper management, many children lead healthy lives. Stay alert to recurrent infections and consult a pediatric specialist if symptoms persist.

For more comprehensive information, visit the TPZ app and read articles written by medical experts, including:

• “The Role of Genetics in Childhood Immunodeficiencies”

• “Managing Recurrent Infections in Kids”