DiGeorge syndrome (DGS) is a primary immunodeficiency disease characterized by multiple clinical features, including congenital heart defects, typical facial appearance, hypocalcemia, and immunodeficiency associated to thymic hypoplasia. A subset of patients with DGS may also have contemporary allergic diseases, possibly in the context of T cell dysregulation. Our work presents an unusual case of DGS in coincidence with severe allergic asthma successfully treated by humanized monoclonal anti-IgE antibody, omalizumab. Biological therapy with omalizumab is indicated as an add-on treatment for poorly controlled asthma in patients with severe persistent allergic asthma aged 6 years and above, who meet strict criteria. While data available from clinical trials suggest that omalizumab is generally well-tolerated, a little is known about its efficacy and tolerability in the context of underlying immunodeficiency. We reported for the first time that omalizumab could be safely effective in treatment of severe allergic asthma in patients with DGS, without modification of immunological parameters.

中文翻译：

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DiGeorge综合征女孩使用奥马珠单抗成功治疗严重的过敏性哮喘

DiGeorge综合征（DGS）是一种主要的免疫缺陷疾病，其特征是具有多种临床特征，包括先天性心脏缺陷，典型的面部外观，低钙血症和与胸腺发育不全相关的免疫缺陷。DGS患者的一部分也可能患有当代过敏性疾病，可能是在T细胞调节异常的情况下。我们的工作提出了一种DGS异常病例，该病例与严重的过敏性哮喘同时发生，已成功通过人源化单克隆抗IgE抗体奥马珠单抗治疗。对于在6岁及以上且符合严格标准的严重持续性过敏性哮喘患者，使用奥马珠单抗进行生物治疗是控制哮喘不良的附加治疗方法。尽管临床试验中的数据表明，奥马珠单抗通常具有良好的耐受性，对于潜在免疫缺陷情况下的功效和耐受性知之甚少。我们首次报道奥马珠单抗可以安全有效地治疗DGS患者的严重过敏性哮喘，而无需改变免疫学参数。