The protean association, with a variable intrafamilial expressivity of dermatological lesions, developmental delay, splenomegaly, repetitive infections, autoimmune manifestations (“systemic lupus erythematosus (SLE) or SLE-like phenotype” and increased IgE) and cytopenia (anemia and thrombocytopenia) are thus suggestive of PD (Figure 1) [5,18,26,29,56]. The gene discussed is IGHE; the disease is systemic lupus erythematosus.