Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (IPEX)

X-连锁免疫失调-多内分泌腺病-肠病综合征(来自ICD-11)

别称:

Ipex

Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome

Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome

Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea

Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked

X-Linked Autoimmunity-Allergic Dysregulation Syndrome

Autoimmunity-Immunodeficiency Syndrome, X-Linked

Iddm-Secretory Diarrhea Syndrome

Autoimmune Enteropathy Type 1

Ipex Syndrome

Xlaad

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy

Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked

Polyendocrinopathy, Immune Dysfunction, and Diarrhea, X-Linked

Dmsd

Xpid

Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked, Formerly

X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea

Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome

Immunodeficiency, Polyendocrinopathy, Enteropathy X-Linked Syndrome

Immunodeficiency Polyendocrinopathy, Enteropathy, X-Linked Syndrome

X-Linked Autoimmunity-Immunodeficiency Syndrome

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

免疫失调、多内分泌病和肠道病，X连锁型，也称为ipex，与多内分泌病和特应性皮炎有关，其症状包括腹泻。与免疫失调、多内分泌病和肠道病，X连锁型相关的基因是FOXP3（叉头盒P3），其相关通路/超级通路包括先天免疫系统和ERK信号通路。在该疾病的背景下，已提到的药物包括卡培他滨和多西他赛。相关组织包括甲状腺和皮肤，相关表型包括自身免疫和1型糖尿病。

查看原文参与反馈