The first symptoms are an inconstant association of developmental delay, splenomegaly, repetitive infections, dermatological lesions, autoimmune manifestations (“systemic lupus erythematosus (SLE) or SLE-like phenotype” and increased IgE) and cytopenia (anemia and thrombocytopenia) [5,18,26,29] (Figure 1a). Here, IGHE is linked to Splenomegaly.