Bonilla Francisco A, Geha Raif S
Division of Immunology, Children's Hospital, Fegan Bldg. 6th Floor, 300 Longwood Avenue, Boston, MA 02115, USA.
J Allergy Clin Immunol. 2006 Feb;117(2 Suppl Mini-Primer):S435-41. doi: 10.1016/j.jaci.2005.09.051.
The pace of discovery in primary immunodeficiency continues to accelerate. In particular, lymphocyte defects have been the source of the most impressive expansion in recent years. Novel forms of agammaglobulinemia, class-switch defects, and T-B(+) severe combined immunodeficiency have been described. Little by little, the genetic heterogeneity of the common variable immunodeficiency and IgA deficiency phenotypes continues to be unraveled as new molecular defects have been reported in these patients as well. The phenotypic spectrum of DiGeorge syndrome has been further developed, along with promising advances in therapy. Defects of nuclear factor kappaB regulation and Toll-like receptor signaling have been described, along with defects of chemokine receptors and cytoplasmic proteases. Clinically defined immunodeficiencies, such as hyper-IgE syndrome and idiopathic CD4 lymphocytopenia, are also discussed. Finally, significant adverse effects in some patients have tempered initial enthusiasm for gene therapy.
原发性免疫缺陷的发现速度持续加快。特别是，淋巴细胞缺陷是近年来最为显著的扩展领域。新型无丙种球蛋白血症、类别转换缺陷以及T - B(+)重症联合免疫缺陷已被描述。随着这些患者中也报告了新的分子缺陷，常见可变免疫缺陷和IgA缺陷表型的遗传异质性也在逐渐被揭示。迪乔治综合征的表型谱得到了进一步拓展，同时治疗方面也取得了有前景的进展。核因子κB调节和Toll样受体信号传导的缺陷以及趋化因子受体和细胞质蛋白酶的缺陷也已被描述。临床上定义的免疫缺陷，如高IgE综合征和特发性CD4淋巴细胞减少症也在讨论范围内。最后，一些患者出现的显著不良反应减弱了最初对基因治疗的热情。
