Full interactive modules and 5 EMR cases covering XLA, CVID, SCID, DiGeorge, and CGD.
Primary immunodeficiency disorders are rare genetic conditions where the immune system fails to develop or function properly from birth. These inherited disorders affect various components of the immune system including B cells, T cells, phagocytes, or complement proteins, leading to increased susceptibility to recurrent infections.
Primary immunodeficiencies result from genetic mutations that impair immune system development or function, affecting adaptive immunity (B and T cells), innate immunity (neutrophils, macrophages), or complement cascade. The defects can involve antibody production, cellular immunity, phagocytic function, or complement activation, creating specific patterns of immune vulnerability based on the affected pathway.
Diagnosis requires recognizing patterns of recurrent, severe, or unusual infections that begin early in life, often with specific pathogen susceptibilities based on the immune defect type. Clinical evaluation focuses on infection history, growth patterns, and family history, followed by immunologic testing including immunoglobulin levels, lymphocyte subsets, and functional assays to identify the specific immune pathway affected.