Figure 2: Proposed model for the effects of activating substitutions (red asterisk) in p110δ Clinically,<unk>  is characterized by recurrent sinopulmonary infections that can lead to progressive airway damage. People also have lymphoproliferation (large lymph nodes and spleen), chronic viremia due to EBV or CMV, distinctive lymphoid nodules at mucosal surfaces, autoimmune cytopenias, and EBV-driven B cell lymphoma. Importantly, the clinical presentations and disease courses are variable with some individuals severely affected, whereas others show little manifestation of disease. This “variable expressivity,” even within the same family, can be striking and may be explained by differences in lifestyle, exposure to pathogens, treatment efficacy, or other genetic modifiers.
PASLI disease
TRIANGLE disease
BENTA disease
Weber–Christian disease
Marchiafava–Bignami disease
Degos disease
Ruijs-Aalfs syndrome
Brill–Zinsser disease