Immunodeficiency 104 (IMD104)

Alias:

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

Imd104

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

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

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

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

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

T-B+ Severe Combined Immunodeficiency Due to Il-7ralpha Deficiency

T-B+ Severe Combined Immunodeficiency Due to Cd45 Deficiency

Immunodeficiency, Type 104, Severe Combined

Immunodeficiency 104, Susceptibility to

T-B+ Scid Due to Il-7ralpha Deficiency

Immunodeficiency 104, Severe Combined

T-B+ Scid Due to Cd45 Deficiency

Scidbnk

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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

免疫缺陷104，又名严重联合免疫缺陷，常染色体隐性，T细胞阴性，B细胞阳性，NK细胞阳性，与免疫缺陷105和T细胞缺陷有关。与免疫缺陷104有关的重要基因是IL7R（白细胞介素7受体），其相关通路/超级通路包括干扰素介导信号通路概述和造血干细胞和特异性标记物。附属组织包括T细胞和NK细胞，相关表型为反复感染和发育不良。

Related ID：

MALACARDS：IMM275

OMIM：608971

MESH：C563822