PGM3 and combined immunodeficiency: Variants in PGM3 were first assumed to be responsible for autosomal recessive forms of hyper IgE syndrome, patients with CID/SCID phenotype and mutated PGM3 are reported in the literature [30–33], mainly manifesting as facial dysmorphisms, skeletal abnormalities, neurologic disorders, renal disorders, and gastrointestinal complications, and less frequently congenital heart disorders, and recurrent respiratory tract infections.