Khan Ubaid, Umer Muhammad, Muhammad Aiman, Iltaf Arej, Nashwan Abdulqadir J
Department of Medicine University of Maryland School of Medicine Baltimore Maryland USA.
Muhammad Medical College Mirpurkhas Pakistan.
Clin Case Rep. 2024 Aug 7;12(8):e9295. doi: 10.1002/ccr3.9295. eCollection 2024 Aug.
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.
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.
骨髓移植（BMT）可挽救患有奥门综合征（一种严重免疫缺陷疾病）患者的生命。及时进行基因诊断和找到匹配的供体进行骨髓移植至关重要。重视新生儿筛查和多学科护理可改善患有遗传性疾病婴儿的治疗结果。及时干预和全面管理对于骨髓移植成功至关重要。
奥门综合征是联合免疫缺陷的一种严重变体，其特征为免疫反应失调和易反复感染。我们报告了一名3个月大女婴的病例，该婴儿最初出现上呼吸道感染症状和弥漫性皮疹，局部治疗无效。4个月大时，患者接受了来自完全匹配的同胞供体的干细胞进行异基因骨髓移植（BMT）。移植前预处理包括抗菌预防和支持治疗。骨髓移植后，患者接受免疫抑制药物以预防移植物排斥和移植物抗宿主病。移植后的临床监测显示中性粒细胞和血小板及时植入，随后的随访显示临床参数稳定且巨细胞病毒状态为阴性。该病例突出了及时诊断和治疗在管理严重免疫缺陷疾病中的重要性，表明及时进行适当干预有可能取得成功结果。定期监测和随访预约对于确保治疗成功至关重要。该病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。该病例的成功结果为未来改善治疗选择和提高患者治疗效果带来了希望。
