• | not one specific entity, but a distinct clinical phenotype associated with a variety of immunodeficiency disorders |
• | therefore, autosomal recessive or dominant |
• | C5 dysfunction (though normal C5 levels) |
• | exfoliative erythroderma, severe diarrhea, gram (-) sepsis |
• | ddx: SCID, atopic dermatitis, CIE, seborrheic dermatitis |
|