Shamsian Bibi Shahin, Paksaz Amirreza, Chavoshzadeh Zahra, Sharafian Samin, Tabatabaee Yazdi Seyed Morteza, Jamee Mahnaz
From the Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Exp Clin Transplant. 2023 Feb;21(2):189-193. doi: 10.6002/ect.2022.0348.
Omenn syndrome is a rare subtype of severe combined immunodeficiency. Affected patients present recurrent infections, lymphadenopathy, skin eruptions, eosinophilia, hepatosplenomegaly, failure to thrive, and gastrointestinal complications with variable severity. A 3-month-old female infant, born to consanguineous healthy parents, presented with splenomegaly, erythroderma, failure to thrive, and history of recurrent otitis media, hypothyroidism, and Bacille Calmette-Guérin lymphadenitis following Bacille Calmette-Guérin vaccination.The immunologic workup showed lymphopenia; low levels of CD3+ T cells, CD4+ T cells, and CD8+ T cells; normal levels of CD19+ B cells and CD16+/CD56+ natural killer cells; hypogammaglobulinemia; and a high level of serum immunoglobulin E. She was clinically diagnosed with T-B+NK+ severe combined immunodeficiency. Genetic study revealed a missense homozygous alteration (c.617G>A, p.Arg206Gln) in exon 5 of the IL7R gene in the patient, as well as carrier states for the same variant in both parents. The patient received a peripheral blood stem cell transplant from a matched unrelated donor. A reduced intensity conditioning regimen was applied, including fludarabine, melphalan, rabbit antithymocyte globulin, and graft- versus-host disease prophylaxis by cyclosporine and mycophenolate mofetil. She clinically improved, and after engraftment the donor chimerism was 100% at 1 year after transplant. Hematopoietic stem cell transplantis a curative therapeutic option for patients with Omenn syndrome and, when combined with an early diagnosis, can prevent complications and improve patient survival.
奥门综合征是严重联合免疫缺陷的一种罕见亚型。受影响的患者会出现反复感染、淋巴结病、皮疹、嗜酸性粒细胞增多、肝脾肿大、生长发育迟缓以及严重程度不一的胃肠道并发症。一名3个月大的女婴，其父母为近亲且健康，出现脾肿大、红皮病、生长发育迟缓，并有反复中耳炎、甲状腺功能减退以及卡介苗接种后卡介苗淋巴结炎的病史。免疫检查显示淋巴细胞减少；CD3⁺T细胞、CD4⁺T细胞和CD8⁺T细胞水平低；CD19⁺B细胞和CD16⁺/CD56⁺自然杀伤细胞水平正常；低丙种球蛋白血症；血清免疫球蛋白E水平高。她临床诊断为T⁻B⁺NK⁺严重联合免疫缺陷。基因研究发现该患者白细胞介素7受体（IL7R）基因第5外显子存在错义纯合改变（c.617G>A，p.Arg206Gln），其父母均为该变异的携带者。该患者接受了来自匹配无关供体的外周血干细胞移植。采用了减低强度预处理方案，包括氟达拉滨、美法仑、兔抗胸腺细胞球蛋白，并通过环孢素和霉酚酸酯预防移植物抗宿主病。她的临床症状有所改善，移植后1年植入时供体嵌合率为100%。造血干细胞移植是奥门综合征患者的一种治愈性治疗选择，与早期诊断相结合可预防并发症并提高患者生存率。
