Preferred Label : Immune Dysregulation Disorder;
NCIt related terms : Diseases of Immune Dysregulation;
NCIt definition : 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.;
NCI Metathesaurus CUI : CL1642418;
Origin ID : C176595;
UMLS CUI : C5447320;
Currated CISMeF NLP mapping
- Semantic type(s)
