■骨髓移植(BMT)挽救了Omenn综合征的生命,严重的免疫缺陷疾病.及时的遗传诊断和匹配的供体BMT至关重要。强调新生儿筛查和多学科护理可改善患有遗传性疾病的婴儿的结局。及时的干预和全面的管理对于成功的移植结果至关重要。
■Omenn综合征是联合免疫缺陷的一种严重变异,其特征是免疫反应失调和对反复感染的易感性。我们介绍了一个3个月大的女婴,最初出现上呼吸道感染症状和弥漫性皮疹,对当地治疗无反应。在4个月大的时候,患者接受了同种异体骨髓移植(BMT),该移植利用了来自完全匹配的同胞供体的干细胞.移植前条件包括抗菌预防和支持治疗。BMT之后,患者接受免疫抑制药物治疗以预防移植物排斥反应和移植物抗宿主病.移植后的临床监测显示及时的中性粒细胞和血小板植入,随后的随访表明,临床参数稳定,巨细胞病毒状态为阴性。该案例强调了及时诊断和治疗在管理严重免疫缺陷疾病中的重要性,通过适当的及时干预,证明成功结果的潜力。定期监测和后续任命对于确保治疗成功至关重要。该案例还强调了多学科护理和基因检测在识别和管理罕见免疫缺陷疾病中的重要性。这种情况下的成功结果为将来改善治疗选择和更好的患者结果提供了希望。
UNASSIGNED: Bone marrow transplantation (BMT) saves lives in Omenn syndrome, a severe immunodeficiency disorder. Timely genetic diagnosis and matched donor BMT are crucial. Emphasis on newborn screening and multidisciplinary care improves outcomes for infants with inherited disorders. Prompt intervention and comprehensive management are vital for a successful transplant outcome.
UNASSIGNED: Omenn syndrome represents a severe variant of combined immunodeficiency characterized by disregulated immune responses and susceptibility to recurrent infections. We present the
case of a 3-month-old female infant initially presenting with upper respiratory infection symptoms and a diffuse rash, unresponsive to local treatment. At 4 months of age, the patient underwent allogeneic bone marrow transplantation (BMT) utilizing stem cells from a fully matched sibling donor. Pre-transplant conditioning included antimicrobial prophylaxis and supportive therapies. Following BMT, the patient received immunosuppressive medications to prevent graft rejection and graft-versus-host disease. Clinical monitoring post-transplant showed timely neutrophil and platelet engraftment, with subsequent follow-up demonstrating stable clinical parameters and negative cytomegalovirus status. The
case highlights the importance of timely diagnosis and treatment in managing severe immunodeficiency disorders, demonstrating the potential for successful outcomes with appropriate timely interventions. Regular monitoring and follow-up appointments were crucial in ensuring the success of the treatment. This
case also emphasizes the significance of multidisciplinary care and genetic testing in identifying and managing rare immunodeficiency disorders. The successful outcome in this
case provides hope for improved treatment options and better patient outcomes in the future.