Siepermann M, Gudowius S, Beltz K, Strier U, Feyen O, Troeger A, Göbel U, Laws H J, Kögler G, Meisel R, Dilloo D, Niehues T
Department of Pediatric Hematology, Oncology and Clinical Immunology, University Hospital Duesseldorf, Germany.
Pediatr Transplant. 2011 Jun;15(4):E80-6. doi: 10.1111/j.1399-3046.2010.01292.x. Epub 2010 Mar 4.
MHC class II deficiency is a rare and fatal form of primary combined immunodeficiency caused by a lack of T-cell-dependent humoral and cellular immune response to foreign antigens, which can only be cured by allogenic stem cell transplantation. In the literature search, we identified 68 cases of HSCT in MHC class II deficiency in the last 14 yr. Pre- and post-transplant MHC class II deficiency is complicated by overwhelming viral infections, a high incidence of GvHD, and graft failure with a poor overall survival rate below 50%. We report an eight-month-old boy presenting with severe respiratory infections and chronic diarrhea, whose sister died at the age of four yr from septicemia. MHC II deficiency was caused by an RFXANK-mutation and treated successfully by 4/6 mismatched unrelated CBT after a myeloablative conditioning regimen based on anti-thymocyte globulin, busulfane, fludarabine, and cyclophosphamide. At present, our patient is well with full immune reconstitution 3(4/12) yr after CBT. CB may represent an alternative source of stem cells for children with MHC class II deficiency without a suitable donor.
MHC II类缺陷是一种罕见且致命的原发性联合免疫缺陷形式，由对外来抗原缺乏T细胞依赖性体液和细胞免疫反应引起，只能通过同种异体干细胞移植治愈。在文献检索中，我们在过去14年里确定了68例MHC II类缺陷患者接受造血干细胞移植的病例。移植前后，MHC II类缺陷并发严重的病毒感染、移植物抗宿主病（GvHD）发生率高以及移植物失败，总体生存率低于50%，情况不容乐观。我们报告了一名8个月大的男孩，他患有严重的呼吸道感染和慢性腹泻，其姐姐在4岁时死于败血症。MHC II类缺陷由RFXANK基因突变引起，在基于抗胸腺细胞球蛋白、白消安、氟达拉滨和环磷酰胺的清髓预处理方案后，通过4/6错配的无关脐血移植（CBT）成功治疗。目前，我们的患者在脐血移植3（4/12）年后情况良好，免疫功能完全重建。对于没有合适供体的MHC II类缺陷儿童，脐血可能是干细胞的另一种来源。
