- A case of autoimmune enteropathy with CTLA4 haploinsufficiency
-
Miyazaki H, Hoshi N, Kohashi M, Tokunaga E, Ku Y, Takenaka H, Ooi M, Yamamoto N, Uemura S, Nishimura N, Iijima K, Jimbo K, Okano T, Hoshino A, Imai K, Kanegane H, Kobayashi I, Kodama Y
- KMID: 2525081
- Intest Res.
- 2022 Jan;20(1):144-149.
- doi: 10.5217/ir.2020.00041
Autoimmune enteropathy (AIE) is a rare disease, characterized by intractable diarrhea, villous atrophy of the small intestine, and the presence of circulating anti-enterocyte autoantibodies. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)... -
- CITED
-
- Close
- SHARE
-
- Close
- X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with gamma c Chain Gene Mutation and Subsequent Genetic Counseling
-
Jo EK, Kumaki S, Wei D, Tsuchiya S, Kanegane H, Song CH, Noh HY, Kim YO, Kim SY, Chung HY, Kim YH, Kook H
- KMID: 1785705
- J Korean Med Sci.
- 2004 Feb;19(1):123-126.
- doi: 10.3346/jkms.2004.19.1.123
X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the gamma c chain gene, which encodes an essential component of the cytokine receptors for... -
- CITED
-
- Close
- SHARE
-
- Close
