The common duplicated region in those three patients and the presented case comprises 12 disease-associated genes including the FOXP3 (Forkhead Box P3) and WAS (Wiskott-Aldrich syndrome) gene, both implicated in immune function.
Increased IgE levels in IPEX, Wiskott-Aldrich syndrome and Omenn syndrome are likely related to increased T(H)2 cytokine production caused by decreased a number or function of CD4(+)CD25(+)forkhead box protein P3(+) regulatory T cells.
This theory has been supported by observations in patients with primary immunodeficiencies such as the Wiskott-Aldrich syndrome and IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome).