Damianaki Anthie, Tzanoudaki Marianna, Kanariou Maria, Liatsis Emmanouil, Panos Alexandros, Soldatou Alexandra, Kossiva Lydia
Second Department of Pediatrics, National and Kapodistrian University of Athens, "P & A Kyriakou" Children's Hospital, 11527 Athens, Greece.
Department of Immunology-Histocompatibility, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.
Children (Basel). 2022 Feb 21;9(2):295. doi: 10.3390/children9020295.
We describe a case of a 3-year-old male toddler with a history of severe and refractory warm antibody autoimmune hemolytic anemia (w-AIHA) since early infancy and hypogammaglobulinemia persisting 20 months after rituximab administration (second-line rescue therapy). Specifically, although peripheral blood flow cytometry B-cell population counts signified B-cell recovery following completion of rituximab therapy, IgG levels were barely detectable. Detailed laboratory evaluation did not reveal any humoral or cell-mediated immunity impairment and the patient remained asymptomatic, without any infections or recurrence of w-AIHA. Due to severe hypogammaglobulinemia, he was placed on immunoglobulin replacement therapy (IVIG). The implemented PID (primary immunodeficiency) gene panel identified only variants of uncertain significance (VUS). The aim of this report is to underline the documentation of persisting hypogammaglobulinemia after rituximab despite peripheral blood B-cell reconstitution.
我们描述了一例3岁男童，自婴儿早期起就患有严重且难治的温抗体自身免疫性溶血性贫血（w-AIHA），在接受利妥昔单抗（二线挽救治疗）后20个月持续存在低丙种球蛋白血症。具体而言，尽管外周血流式细胞术检测显示利妥昔单抗治疗结束后B细胞数量恢复，但IgG水平几乎检测不到。详细的实验室评估未发现任何体液或细胞介导的免疫功能损害，患者仍无症状，未发生任何感染或w-AIHA复发。由于严重的低丙种球蛋白血症，他接受了免疫球蛋白替代治疗（静脉注射免疫球蛋白）。实施的原发性免疫缺陷（PID）基因检测仅发现意义未明的变异（VUS）。本报告的目的是强调尽管外周血B细胞已重建，但利妥昔单抗治疗后仍持续存在低丙种球蛋白血症的情况。
