Severe Combined Immunodeficiency, X-Linked (SCIDX1)

X-连锁重症联合免疫缺陷1型(来自ICD-11)

别称:

X-Linked Severe Combined Immunodeficiency

Scidx1

Xscid

X-Linked Combined Immunodeficiency Diseases

T-B+ Severe Combined Immunodeficiency Due to Gamma Chain Deficiency

T-B+ Severe Combined Immunodeficiency, X-Linked

T-B+ Scid Due to Gamma Chain Deficiency

Gamma Chain Deficiency

Immunodeficiency 4

X-Linked Scid

Scid-X1

X-Scid

Scidx

Imd4

Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Severe Combined Immunodeficiency X-Linked T-Cell-Negative/b-Cell-Positive/nk-Cell-Negative

Severe Combined Immunodeficiency X-Linked T Cell-Negative/b Cell-Positive/nk Cell-Negative

Severe Combined Immunodeficiency X-Linked T-Cell Negative/b-Cell Positive/nk-Cell Negative

Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency

Immunodeficiency, Severe Combined, X-Linked, Type 1

Agammaglobulinemia Swiss Type

Thymic Epithelial Hypoplasia

Il2rg Scid, T- B+ Nk-

Scid, X-Linked

Scid X-Linked

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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

X-连锁严重联合免疫缺陷，又名X连锁严重联合免疫缺陷，与X连锁联合免疫缺陷和严重联合免疫缺陷，常染色体隐性，T细胞阴性，B细胞阴性，NK细胞阴性，由于腺苷脱氨酶缺乏有关。与X连锁严重联合免疫缺陷有关的重要基因是IL2RG（白细胞介素2受体亚基伽马），其相关通路/超级通路包括先天免疫系统和ERK信号通路。Busulfan和Mecasermin已在该疾病的背景下被提及。附属组织包括NK细胞和T细胞，相关表型为淋巴细胞减少和肺炎。

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