Recently, Stray-Pedersen et al. described patients with autosomal recessive hyper-IgE syndrome with phosphoglucomutase 3 (PGM3) deficiency who presented with severe skeletal dysplasia resembling Desbuquois dysplasia, striking skeletal abnormalities and T−B−NK+SCID phenotype (9). Here, PGM3 is linked to Autosomal recessive hyper-IgE syndrome.