To date, three of the patients with SAP deficiency and one with XIAP deficiency have died: P4 died of intracranial hemorrhage at the age of 1 year, P7 died of gastrointestinal hemorrhage at the age of 3 years, P8 died due to lymphoma recurrence and brain metastasis at the age of 7 years, and P36.1 died of pneumorrhagia at the age of 4 years. Here, SH2D1A is linked to hyperinsulinemic hypoglycemia, familial, 4.