Tregopathies: Monogenic diseases resulting in regulatory T-cell deficiency

• Published in: Journal of allergy and clinical immunology Vol. 142; no. 6; pp. 1679 - 1695
• Main Authors: Cepika, Alma-Martina, Sato, Yohei, Liu, Jeffrey Mao-Hwa, Uyeda, Molly Javier, Bacchetta, Rosa, Roncarolo, Maria Grazia
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.12.2018
• Subjects: Autoimmunity; BACH2; CD25; CTLA-4; FOXP3; gain of function; hematopoietic stem cell transplantation; IL-10; IL-2; immune dysregulation; inborn error of immunity; IPEX; LRBA; monogenic disease; primary immunodeficiency; regulatory T (Treg) cell; STAT3 GOF; TR1; Tregopathy; type 1 regulatory T cell; Autoimmunity; T1D; inborn error of immunity; IBD; SCID; SLE; BACH2; type 1 regulatory T cell; SOCS3; HDR; hematopoietic stem cell transplantation; primary immunodeficiency; regulatory T (Treg) cell; HSC; CTLA-4; GOF; STAT3 GOF; GH; LOF; pTreg; LRBA; Treg; Tregopathy; IL-2; TSDR; FOXP3; IL-10; immune dysregulation; allo-HSCT; monogenic disease; TR1; STAT; APC; IUIS; gain of function; Teff; IPEX; CD25; IL-10R; NK; PD-1; tTreg; T(R)1

Monogenic diseases of the immune system, also known as inborn errors of immunity, are caused by single-gene mutations resulting in immune deficiency and dysregulation. More than 350 diseases have been described to date, and the number is rapidly expanding, with increasing availability of next-genera...