Granulomatous Disease, Chronic, Autosomal Recessive, 1 (CGD1)

常染色体隐性慢性肉芽肿病1型(来自ICD-11)

别称:

Chronic Granulomatous Disease Due to Deficiency of Ncf-1

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 1

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type I

Deficiency of Neutrophil Cytosol Factor 1

Soluble Oxidase Component Ii Deficiency

P47-Phox Deficiency

Ncf1 Deficiency

Soc2 Deficiency

Cgd1

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type I

Granulomatous Disease, Chronic, Due to Deficiency of Ncf-1, Type 1

Cgd, Autosomal Recessive Cytochrome B-Positive, Type I

Granulomatous Disease, Chronic, Due to Ncf1 Deficiency

Chronic Granulomatous Disease 1, Autosomal Recessive

Chronic Granulomatous Disease Due to Ncf1 Deficiency

Autosomal Recessive Chronic Granulomatous Disease 1

Deficiency of Soluble Oxidase Component Ii

Neutrophil Cytosol Factor 1 Deficiency

Deficiency of P47-Phox

Deficiency of Ncf1

Deficiency of Soc2

Cdg1

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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

粒细胞增生性疾病，常染色体隐性遗传型1，又名由于缺乏 ncf-1 引起的慢性粒细胞增生性疾病，与慢性粒细胞增生性疾病和肌营养不良-肌糖蛋白病，类型 c，15 有关。与粒细胞增生性疾病，常染色体隐性遗传型1相关的基因是 NCF1（中性粒细胞胞浆因子1），其相关通路/超级通路包括信号转导和 Rho GTPases 信号传导。相关组织包括中性粒细胞和骨髓，相关表型为氧化爆发受损和脾肿大。

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