Diagnostic Approach
Clinical Evaluation
: Detailed history, physical examination, and family history.
Laboratory Tests
: Immunoglobulin levels, lymphocyte subsets, and functional assays.
Genetic Testing
: Identifying specific gene mutations.
Imaging
: Assessing lymphoid tissue and organ involvement.
Treatment Strategies
Immunoglobulin Replacement
: For antibody deficiencies.
Antibiotics and Antifungals
: To manage infections.
Hematopoietic Stem Cell Transplantation
: Curative option for certain PIDs.
Targeted Therapies
: Modulating immune responses.
Supportive Care
: Nutritional support, vaccinations, and infection prevention.