Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative (T B NK SCID)

有T细胞阴性-B细胞阳性-NK细胞阴性的常染色隐性重症联合免疫缺陷病(来自ICD-11)

别称:

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive

T-B+ Severe Combined Immunodeficiency Due to Jak3 Deficiency

Severe Combined Immunodeficiency, B Cell-Negative

Severe Combined Immunodeficiency Due to Complete Rag1/2 Deficiency

Scid Due to Complete Rag1/2 Deficiency

Immunodeficiency, Severe Combined, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Immunodeficiency, Severe Combined, Autosomal Recessive, T-Cell Negative, B-Cell Negative, Nk Cell-Positive

Autosomal Recessive T Cell-Negative, B Cell-Positive, Nk Cell-Negative Severe Combined Immunodeficiency

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Positive

Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Negative/nk Cell-Positive

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Negative/nk-Cell Positive

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Positive/nk-Cell-Negative

Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Positive/nk Cell-Negative

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Positive/nk-Cell Negative

Autosomal Recessive T Cell-Negative, B-Cell Negative, Nk Cell-Positive Scid

Severe Combined Immunodeficiency Due to Complete Rag1-2 Deficiency

Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Scid, T Cell-Negative, B Cell-Negative, Nk Cell-Positive

T Cell-Negative, B Cell-Positive, Nk Cell-Negative Scid

Scid, Autosomal Recessive, T-Negative/b-Positive Type

Scid T Cell-Negative B Cell-Negative Nk Cell-Positive

Jak3-Deficient Severe Combined Immunodeficiency

Scid Due to Complete Rag1-2 Deficiency

Autosomal Recessive T-B+nk- Scid

T-B+ Scid Due to Jak3 Deficiency

T B Nk Scid

Jak3 Scid

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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

严重联合免疫缺陷，常染色体隐性，T细胞阴性，B细胞阳性，NK细胞阴性，也称为严重联合免疫缺陷，常染色体隐性，T细胞阴性，B细胞阳性，NK细胞阳性，与对电离辐射敏感的严重联合免疫缺陷和细胞和体液免疫缺陷合并结节有关。与严重联合免疫缺陷，常染色体隐性，T细胞阴性，B细胞阳性，NK细胞阴性有关的重要基因是JAK3（Janus Kinase 3），其相关通路/超级通路包括RAF/MAP激酶级联和细胞因子信号传导在免疫系统中。附属组织包括皮肤和T细胞，相关表型为循环抗体水平降低和循环IgA水平降低。

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