Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Pediatr Allergy Immunol. 2021 Nov;32(8):1601-1615. doi: 10.1111/pai.13589. Epub 2021 Jul 24.
Predominantly antibody deficiencies (PADs) encompass a heterogeneous group of disorders characterized by low immunoglobulin serum levels in the presence or absence of peripheral B cells. Clinical presentation of affected patients may include recurrent respiratory and gastrointestinal infections, invasive infections, autoimmune manifestations, allergic reactions, lymphoproliferation, and increased susceptibility to malignant transformation. In the last decades, several genetic alterations affecting B-cell development/maturation have been identified as causative of several forms of PADs, adding important information on the genetic background of PADs, which in turn should lead to a better understanding of these disorders and precise clinical management of affected patients. This review aimed to present a comprehensive overview of the known and potentially involved molecules in the etiology of PADs to elucidate the pathogenesis of these disorders and eventually offer a better prognosis for affected patients.
主要抗体缺陷症（PAD）包括一组异质性疾病，其特征是在存在或不存在外周 B 细胞的情况下，免疫球蛋白血清水平降低。受影响患者的临床表现可能包括反复呼吸道和胃肠道感染、侵袭性感染、自身免疫表现、过敏反应、淋巴增生和恶性转化的易感性增加。在过去几十年中，已确定了几种影响 B 细胞发育/成熟的遗传改变，这些改变是导致几种形式的 PAD 的原因，这为 PAD 的遗传背景提供了重要信息，这反过来又应有助于更好地理解这些疾病，并对受影响的患者进行精确的临床管理。本综述旨在全面概述 PAD 发病机制中已知和潜在涉及的分子，以阐明这些疾病的发病机制，并最终为受影响的患者提供更好的预后。
