IGHE and scoliosis: The variant R382W in Patient 2 (DNA-binding domain) is one of the most common in AD-HIES [12], whereas c.1850 G > A (p.Gly617Glu) mutation (BC6 position of SH2 domain) in Patient 1 has been described only in a 19-year-old man by Schimke et al. [14] in 2010 and “classified as probably damaging.” According to the authors, the G617E variant arose de novo, and the patient presented with a high serum IgE level (>5,000 IU/mL), eczema, scoliosis, skin abscesses, and characteristic facies, without any pulmonary infections, pathologic fractures, or retained primary teeth.