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[原发性免疫缺陷病的基础知识]

[Basics of primary immunodeficiencies].

作者信息

Hernández-Martínez Claudia, Espinosa-Rosales Francisco, Espinosa-Padilla Sara Elva, Hernández-Martínez Ana Rosa, Blancas-Galicia Lizbeth

机构信息

Unidad de Investigación en inmunodeficiencias, Instituto Nacional de Pediatría, Secretaría de Salud, Ciudad de México, México.

出版信息

Rev Alerg Mex. 2016 Apr-Jun;63(2):180-9. doi: 10.29262/ram.v63i2.146.

Abstract

Primary immunodeficiencies (PID) are a heterogeneous group of inherited disorders, the etiology are the defects in the development or function of the immune system. The principal PID manifestations are the infections in early age, malignancy and diseases of immune dysregulation as autoimmunity and allergy. PIDs are genetics disorders and most of them are inherited as autosomal recessive, also this group of diseases is more prevalent in males and in childhood. The antibody immunodeficiency is the PID more common in adults. The more frequent disorders are the infections in the respiratory tract, abscesses, candidiasis, diarrhea, BCGosis etc. Initial approach included a complete blood count and quantification of immunoglobulins. The delay in diagnosis could be explained due to a perception that the recurrent infections are normal process or think that they are exclusively of childhood. The early diagnosis of PID by primary care physicians is important to opportune treatment and better prognosis.

摘要

原发性免疫缺陷病(PID)是一组异质性遗传性疾病,其病因是免疫系统发育或功能缺陷。PID的主要表现为幼年时期的感染、恶性肿瘤以及免疫失调性疾病,如自身免疫和过敏。PID是遗传性疾病,大多数呈常染色体隐性遗传,而且这组疾病在男性和儿童中更为普遍。抗体免疫缺陷是成人中最常见的PID。较常见的病症有呼吸道感染、脓肿、念珠菌病、腹泻、卡介苗病等。初步检查包括全血细胞计数和免疫球蛋白定量。诊断延迟可能是由于认为反复感染是正常过程,或者认为它们仅发生在儿童时期。初级保健医生对PID的早期诊断对于及时治疗和改善预后很重要。

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