Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation (SCIDA)

电离辐射敏感型重症联合免疫缺陷(来自ICD-11)

别称:

Severe Combined Immunodeficiency Due to Dclre1c Deficiency

Severe Combined Immunodeficiency, Athabascan Type

Severe Combined Immunodeficiency Due to Artemis Deficiency

Severe Combined Immunodeficiency, Athabaskan Type

Scid Due to Artemis Deficiency

Scid Due to Dclre1c Deficiency

Scid, Athabascan Type

Scid, Athabaskan Type

Athabaskan Severe Combined Immunodeficiency

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Positive with Sensitivity to Ionizing Radiation

Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, with Sensitivity to Ionizing Radiation

Immunodeficiency, Severe Combined, Athabascan Type

Severe Combined Immunodeficiency, Athabaskan-Type

Severe Combined Immunodeficiency Athabaskan Type

Artemis Deficiency

Athabascan Scid

Rs-Scid

Rsscid

Scida

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

辐射敏感性严重联合免疫缺陷，也称为dclre1c缺陷引起的严重联合免疫缺陷，与淋巴细胞减少和先天性胸腺发育不全有关，症状包括腹泻。辐射敏感性严重联合免疫缺陷相关的重要基因是DCLRE1C（DNA交叉联接修复1C），其相关通路/超级通路包括先天免疫系统和同源导向修复。相关组织包括T细胞和淋巴结，相关表型包括寻常疣和循环IgA水平降低。

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