TY - JOUR T1 -   Novel mutations of <em>FOXP3</em> in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX) JF - Journal of Medical Genetics JO - J Med Genet SP - 874 LP - 876 DO - 10.1136/jmg.38.12.874 VL - 38 IS - 12 AU - Ichiro Kobayashi AU - Reza Shiari AU - Masafumi Yamada AU - Nobuaki Kawamura AU - Motohiko Okano AU - Asao Yara AU - Akihiro Iguchi AU - Nobuyoshi Ishikawa AU - Tadashi Ariga AU - Yukio Sakiyama AU - Hans D Ochs AU - Kunihiko Kobayashi Y1 - 2001/12/01 UR - http://jmg.bmj.com/content/38/12/874.abstract N2 - Editor—Immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX), also known as X linked autoimmunity-allergic dysregulation syndrome (XLAAD), is characterised by enteropathy and involvement of the endocrine system, such as insulin dependent diabetes mellitus (IDDM) and thyroiditis, which develop in association with autoantibodies in early infancy (MIM 304930, 304790).1 2 IPEX has been mapped to chromosome Xp11.23-Xq13.3.3 4 Recent studies have indicated thatFOXP3, a member of forkhead/winged-helix proteins, is a causative gene for both IPEX and an equivalent mouse,scurfy.5-8 HumanFOXP3 consists of 11 exons and encodes 431 amino acids containing a zinc finger (Zn) domain, a leucine zipper (Zip) motif, and a forkhead domain.6 8 We have previously reported two unrelated Japanese patients with X linked autoimmune enteropathy associated with tubulonephropathy and endocrinopathy.2 9 10 We report here novel mutations in the FOXP3 gene of these patients. Clinical and laboratory findings of our patients have been previously reported.2 9 10 Briefly, patient 1, a boy, now 11 years old, was diagnosed as having autoimmune … ER -