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首页> 外文期刊>Journal of paediatrics and child health >Everything a general paediatrician needs to know about primary immunodeficiencies
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Everything a general paediatrician needs to know about primary immunodeficiencies

机译：一般儿科医生需要了解主要免疫缺失

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摘要

Primary immunodeficiencies (PID) are a heterogenous group of inherited diseases, arising from inborn errors of immunity. Although typically managed by specialist immunologists, general paediatricians are often the first point of referral for patients with clinical pictures that may be presentations of PID. Recurrent, severe or atypical infections are common, but autoimmunity, aberrant inflammation and malignancy may also occur. PID may occur with or without other syndromic features. Early diagnosis and implementation of treatment are important, particularly if curative bone marrow transplant is a possible treatment modality. Therefore, knowledge of PID phenotypes, recognition of presentations and an approach to investigation are essential. Advances in genetic testing have greatly enhanced the ability to diagnose PID and their underlying genetic defects.
机译：原发性免疫缺陷症（PID）是一组遗传性疾病，由先天性免疫错误引起。尽管通常由专业免疫学家管理，但对于临床表现可能为PID的患者，普通儿科医生通常是第一个转诊点。复发性、严重或非典型感染很常见，但也可能发生自身免疫、异常炎症和恶性肿瘤。PID可伴发或不伴发其他综合征特征。早期诊断和实施治疗非常重要，尤其是如果治疗性骨髓移植是一种可能的治疗方式。因此，了解PID表型、识别表现和调查方法至关重要。基因检测的进步极大地增强了诊断PID及其潜在遗传缺陷的能力。

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