Department of Pediatrics, Federico II University, Naples, Italy.
Int Rev Immunol. 2012 Feb;31(1):43-65. doi: 10.3109/08830185.2011.644607.
Severe combined immunodeficiencies (SCIDs) represent a group of distinct congenital disorders affecting either cell-mediated or humoral immunity, which lead invariably to severe and life-threatening infections. The different forms of SCID are currently classified according to the presence or absence of T, B, and NK cells. This greatly helps define the site of the blockage during the differentiation process. Even though SCID patients share common clinical features, such as opportunistic infections and failure to thrive, irrespective of the underlying pathogenetic mechanism, the discovery of new causative gene alterations led to identify novel complex clinical phenotypes, sometimes associated to extrahematopoietic manifestations. In a few cases, the presenting signs may be peculiar to that specific form and physicians should be alerted in recognizing such complex phenotypes, in order to avoid delay in the diagnostic procedures. The aim of this review is to alert care-givers to take into account also the less frequent clinical features and novel pathogenic mechanisms to direct the functional and molecular studies toward a certain genetic alteration.
严重联合免疫缺陷症（SCID）是一组不同的先天性疾病，可影响细胞介导或体液免疫，这些疾病必然导致严重且危及生命的感染。目前根据 T、B 和 NK 细胞的存在或缺失来对不同形式的 SCID 进行分类。这有助于确定分化过程中阻断的位置。尽管 SCID 患者具有共同的临床特征，例如机会性感染和生长不良，但无论潜在的发病机制如何，新的致病基因突变的发现导致了新的复杂临床表型的识别，有时与造血系统外表现相关。在少数情况下，出现的体征可能与该特定形式有关，医生应警惕识别这种复杂的表型，以避免诊断程序的延迟。本综述的目的是提醒护理人员注意不太常见的临床特征和新的发病机制，以便将功能和分子研究指向特定的遗传改变。
