Of the patients with immunodeficiencies affecting cellular and humoral immunity, MHC II deficiency was the most commonly reported (17 patients) followed by RAG1 deficiency (11 patients), while 22q11.2DS, causing partial DiGeorge syndrome was the most commonly reported among patients with combined immunodeficiencies with associated syndromic features (30 patients). This evidence concerns the gene RAG1 and hyperinsulinemic hypoglycemia, familial, 4.