Version June 2024
| Primary presentation |
| Sepsis and bacteremia (gram-negative bacteria, encapsulated pathogens) |
| Diarrhea |
| Dermatitis |
| Frequent upper respiratory infections |
| Meningitis |
| Other reported presentations |
| Elevated IgE |
| Allergic disease |
| Chronic idiopathic/immune thrombocytopenic purpura |
| Large warts (epidermodysplasia verruciformis) |
| Splenomegaly |
| Growth retardation in children |
| Possible presentations |
| Autoimmunity (increased response to self-antigens?) |
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