Phagocyte Defects

Chronic Granulomatous Disease – CGD

CGD is often diagnosed in childhood. This condition results in phagocytes (a type of white blood cell) being unable to effectively kill bacteria and fungi.

Recurrent and sometimes severe infections, including skin infections, pneumonia, abscesses in organs, and swollen lymph nodes.

Cell Deficiencies (e.g., Selective IgA Deficiency, X-linked Agammaglobulinemia):

This can manifest at any age, depending on the specific deficiency. Characterized by insufficient or absent antibody (immunoglobulin) production by B cells.

Increased susceptibility to infections, particularly respiratory and gastrointestinal infections. In Selective IgA Deficiency, many individuals may be asymptomatic, whereas X-linked Agammaglobulinemia primarily affects males and results in very low antibody levels, leading to recurrent bacterial infections from infancy.

Severe Combined Immunodeficiencies (SCIDs):

This is present from birth and are life-threatening. Involve a deficiency of crucial immune cells, both T cells and often B cells.

Common Symptoms:

Highly susceptible to severe and opportunistic infections from bacteria, viruses, and fungi, often beginning within the first few months of life. Additional symptoms may include poor growth and developmental delays.