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中文Immunodeficiency 31c (IMD31C)
Alias:
Candidiasis, Familial, 7
Imd31c
Candf7
Autoimmune Enteropathy and Endocrinopathy - Susceptibility to Chronic Infections Syndrome
Autoimmune Enteropathy and Endocrinopathy-Susceptibility to Chronic Infections Syndrome
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant
Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant
Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis
Immunodeficiency, Type 31c, Autosomal Dominant
Immunodeficiency 31c, Autosomal Dominant
Autosomal Dominant Immunodeficiency 31c
Chronic Mucocutaneous Candidiasis 7
Familial Candidiasis 7
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免疫缺陷31c，也称为家族性念珠菌病7，与家族性念珠菌病6和家族性念珠菌病1有关。与免疫缺陷31c有关的重要基因是STAT1（信号转导和转录激活因子1），其相关通路/超级通路包括白细胞介素-2家族信号通路和成骨细胞分化及相关疾病。附属组织包括皮肤和B细胞，相关表型包括延迟骨骼成熟和身材矮小。
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MALACARDS
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