Comprehensive Overview of Severe Primary Immunodeficiency: Causes, Diagnosis, and Treatments

July. 16,2025

This article provides an in-depth look at severe primary immunodeficiency, covering its causes, symptoms, diagnostic methods, preventive measures, and treatment options. It highlights the importance of early detection and advanced therapies like stem cell and gene treatments for managing this genetic immune disorder effectively.

Comprehensive Overview of Severe Primary Immunodeficiency: Causes, Diagnosis, and Treatments

Comprehensive Overview of Severe Primary Immunodeficiency: Causes, Diagnosis, and Treatments

Primary immunodeficiency disorders are genetic conditions impairing the immune system's ability to defend against infections. These conditions result from mutations in over 100 genes essential for immune function, leading to decreased antibody and white blood cell production. Children with PI are prone to recurrent bacterial, fungal, parasitic, and viral infections. Recognizing early signs such as frequent infections, poor growth, and slow wound healing is vital. Diagnosis involves blood tests measuring antibody levels and genetic screenings for specific mutations. Prevention includes good hygiene, balanced nutrition, and vaccinations. Treatment options include antibiotics, immunoglobulin therapy, and emerging therapies like stem cell transplants and gene therapy.

  • Primary immunodeficiency
  • Genetic immune disorders
  • Infection prevention
  • Immunoglobulin therapy

Industry: Healthcare