Early detection of the disease is crucial because mortality is on high level without treatment. The diagnosis of immunodysregulation polyendocrinopathy enteropathy X-linked syndrome is consistent with the following criteria: * Clinical triad * Family history * Laboratory findings: elevated serum concentration of IgE, eosinophilia, autoimmune anemia and decreased number of FOXP3 Treg cells. * Genetic testing: single-gene testing and multigene panel.
IPEX syndrome
EAST syndrome
TAN syndrome
TEMPI syndrome
SUNCT syndrome
VEXAS syndrome
3C syndrome
RIDDLE syndrome