Singh Ankita, Jindal Ankur K, Joshi Vibhu, Anjani Gummadi, Rawat Amit
Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Genes Dis. 2019 Sep 24;7(1):12-25. doi: 10.1016/j.gendis.2019.09.007. eCollection 2020 Mar.
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.
原发性免疫缺陷病（PIDs）是一组异质性疾病，临床上以易感性增加、自身免疫和恶性肿瘤风险增加为特征。这组疾病的临床表现与已知遗传缺陷的原发性免疫缺陷病相似，但要么没有遗传缺陷，要么存在体细胞突变，因此被标记为“原发性免疫缺陷病的拟表型”。这些疾病进一步细分为与体细胞突变相关的疾病和与针对各种细胞因子的自身抗体存在相关的疾病。在本综述中，我们提供了这些疾病的临床表现、诊断和管理的最新情况。
