Manton Center for Orphan Disease Research and Division of Immunology, Children's Hospital Boston, Boston, MA 02115, USA.
Hematology Am Soc Hematol Educ Program. 2009:139-43. doi: 10.1182/asheducation-2009.1.139.
Autoimmune manifestations are increasingly being recognized as a component of several forms of primary immunodeficiencies (PID). Defects in purging of self-reactive T and B cells, impaired Fas-mediated apoptosis, abnormalities in development and/or function of regulatory T cells, and persistence of immune activation as a result of inability to clear infections have been shown to account for this association. Among autoimmune manifestations in patients with PID, cytopenias are particularly common. Up to 80% of patients with autoimmune lymphoproliferative syndrome (ALPS) have autoantibodies, and autoimmune hemolytic anemia and immune thrombocytopenia have been reported in 23% and 51% of ALPS patients, and may even mark the onset of the disease. ALPS-associated cytopenias are often refractory to conventional treatment and represent a therapeutic challenge. Autoimmune manifestations occur in 22% to 48% of patients with common variable immunodeficiencies (CVIDs), and are more frequent among CVID patients with splenomegaly and granulomatous disease. Finally, autoimmune cytopenias have been reported also in patients with combined immunodeficiency. In particular, autoimmune hemolytic anemia is very common among infants with nucleoside phosphorylase deficiency. While immune suppression may be beneficial in these cases, full resolution of the autoimmune manifestations ultimately depends on immune reconstitution, which is typically provided by hematopoietic cell transplantation.
自身免疫表现越来越被认为是几种原发性免疫缺陷病（PID）的组成部分。已证明，清除自身反应性 T 和 B 细胞的缺陷、Fas 介导的细胞凋亡受损、调节性 T 细胞发育和/或功能异常以及由于无法清除感染而导致的免疫激活持续存在，这些都导致了这种关联。在 PID 患者的自身免疫表现中，血细胞减少症尤为常见。多达 80%的自身免疫性淋巴增生综合征（ALPS）患者存在自身抗体，并且有 23%和 51%的 ALPS 患者报告存在自身免疫性溶血性贫血和免疫性血小板减少症，甚至可能标志着疾病的开始。ALPS 相关的血细胞减少症通常对常规治疗有抗药性，是一种治疗挑战。自身免疫表现发生在 22%至 48%的常见可变免疫缺陷病（CVID）患者中，在伴有脾肿大和肉芽肿病的 CVID 患者中更为常见。最后，联合免疫缺陷病患者也报告了自身免疫性血细胞减少症。特别是，核苷磷酸化酶缺乏症婴儿中常发生自身免疫性溶血性贫血。虽然免疫抑制在这些情况下可能是有益的，但自身免疫表现的完全缓解最终取决于免疫重建，这通常是通过造血细胞移植来提供的。
