An updated review on phenocopies of primary immunodeficiency diseases

Ankita Singh; Ankur K. Jindal; Vibhu Joshi; Gummadi Anjani; Amit Rawat

doi:10.1016/j.gendis.2019.09.007

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An updated review on phenocopies of primary immunodeficiency diseases

更新时间：2022-06-24

- An updated review on phenocopies of primary immunodeficiency diseases
- Genes & Diseases Vol. 7, Issue 1, (2020)
- 作者机构：
  
  Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research,Chandigarh,India
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2019.09.007
  CLC：
- Published：2020，
  
  Published Online：1 March 2020，
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Ankita Singh, Ankur K. Jindal, Vibhu Joshi, et al. An updated review on phenocopies of primary immunodeficiency diseases. [J]. Genes & Diseases 7(1).(2020)
DOI：

Ankita Singh, Ankur K. Jindal, Vibhu Joshi, et al. An updated review on phenocopies of primary immunodeficiency diseases. [J]. Genes & Diseases 7(1).(2020) DOI： 10.1016/j.gendis.2019.09.007.

摘要

Abstract

Primary immunodeficiency diseases (PIDs) refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections

autoimmunity and increased risk of malignancies.These group of disorders present with clinical manifestations similar to PIDs with known genetic defects but have either no genetic defect or have a somatic mutation and thus have been labelled as “Phenocopies of PIDs”. These diseases have been further subdivided into those associated with somatic mutations and those associated with presence of auto-antibodies against various cytokines.In this review

we provide an update on clinical manifestations

diagnosis and management of these diseases.

关键词

Keywords

Anti-cytokine antibodiesPhenocopiesPrimary immunodeficiency diseasesSomatic mutations

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