J Med Genet 38:874-876 doi:10.1136/jmg.38.12.874
  • Letters to the editor

  Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

  1. Ichiro Kobayashia,
  2. Reza Shiaria,
  3. Masafumi Yamadaa,
  4. Nobuaki Kawamuraa,
  5. Motohiko Okanoa,
  6. Asao Yarab,
  7. Akihiro Iguchic,
  8. Nobuyoshi Ishikawac,
  9. Tadashi Arigad,
  10. Yukio Sakiyamad,
  11. Hans D Ochse,
  12. Kunihiko Kobayashia
  1. aDepartment of Paediatrics, Hokkaido University School of Medicine, North-15 West-7, Kita-ku, Sapporo 060-8638, Japan, bPaediatric Clinic, Naha Municipal Hospital, Naha, Japan, cPaediatric Clinic, Kitami Red Cross General Hospital, Kitami, Japan, dGene Therapy, Hokkaido University School of Medicine, Sapporo, Japan, eDivision of Immunology, Infectious Disease and Rheumatology, Department of Pediatrics, University of Washington, Seattle, USA
  1. Dr Kobayashi,ichikoba{at}

    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.

    Patients and methods

    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 …