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  • A group of autoimmune disorders characterized by defects in self-tolerance (central or peripheral) resulting in autoimmune disease with or without recurrent infections, comprised by: Familial hemophagocytic lymphohistiocytosis (FHL) syndromes; FHL syndromes with hypopigmentation; Regulatory T cell (Treg) defects (eg, IPEX); Autoimmunity with or without lymphoproliferation (eg, autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy [APECED]); Autoimmune lymphoproliferative syndrome (ALPS); Immune dysregulation with colitis; and Susceptibility to Epstein-Barr virus (EBV) and lymphoproliferative conditions.
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