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Phenocopies: Mimics of Inborn Errors of Immunity

机译:表象:免疫力先天性错误的模仿

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摘要

A phenocopy is defined as a clinical non-inherited phenotype in an indi-vidual, with environmental induction, which is identical to the genetically determined phenotype of another. Until February 2017, the IUIS (Interna-tional Union of Immunological Societies) reported in its classification 354 innate immunity errors and a final group (classification table IX) with con-ditions that are not part of the innate alterations and are called phenocopies. These are classified into two types, the associated with somatic mutations and those associated with auto-antibodies. The phenotypes that occur by any of the mechanisms mentioned are complex and varied. It is necessary to know the clinical manifestations of the pathologies classified in this group to enrich the possible differential diagnoses in individuals with suspected immunodeficiency.,
机译:表型被定义为具有环境诱导作用的个体的临床非遗传表型,其与另一种的遗传确定的表型相同。直到2017年2月,国际免疫学会(IUIS)在其分类354中报告了先天免疫错误,并报告了最终条件(分类表IX),其条件不属于先天变异,被称为表型。这些被分为两种类型,与体细胞突变有关和与自身抗体有关。通过上述任何一种机制产生的表型都是复杂且变化的。有必要知道在这一组中分类的病理学的临床表现,以丰富可疑免疫缺陷患者的可能的鉴别诊断。

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