| Objective: To study the clinical data of patients with Hyper IgM Syndrome(HIGM)treated by allogeneic hematopoietic stem cell transplantation(allo-HSCT)in Children’s Hospital of Chongqing Medical University.To provide reference for clinical practice of HIGM treated by allo-HSCT combined with recent studies at home and abroad.Methods: Clinical date of 17 HIGM patients who received allo-HSCT between September 2009 to September 2019 in Children’s Hospital of Chongqing Medical University were retrospectively collected.The clinical characteristics of patients before and after transplantation were summarized,and the clinical problems such as the timing,regimens,complications and survival of allo-HSCT were evaluated.Results: All the 17 patients were male(100%),including 16 cases of X-HIGM and 1 case of spontaneous mutation of CD40 L.The median age of diagnosis was 26(6,163)months and the median age of transplantation was 36(15,178)months.The patients mainly received peripheral blood transplantation from unrelated donors and the majority of them received myeloablative conditioning(MAC).The median time of neutrophil and platelet implantation were 11(9,17)days and 11.5(7,28)days after transfusion.Liver dysfunction was the most common transplantation-related toxic complication which occurred in 13 cases.The median time of a GVHD onset was 14(7,34)days and the incidence of a GVHD with degree Ⅱ and above was about 23.5%(4/17).The incidence of c GVHD was about 17.6%(3/17).The positive rate of virus within 100 days after transplantation was 82.4%,mainly caused by Epstein-Barr virus(EBV)and cytomegalovirus(CMV)infection.John Cunningham virus(JCV)infection was rare(2/17)but might lead to poor prognosis.Septicemia was clinically diagnosed in 16 patients after transplantation and the incidence rate of septicemia was as high as 94.1%.11 cases(68.8%)occurred within 7 days after transfusion.3 cases died in the early stage after transplantation,mainly due to transplantation-related complications.The median follow-up time of the patient cohort was about 2 years.The overall survival rate(OS),event-free survival rate(EFS)and disease-free survival rate(DFS)were(82.35±9.25)%,(70.59±11.05)%,and(76.47±10.29)%,respectively.Univariate analysis showed that the patients with HLA matched transplantation got better EFS than HLA mismatched transplantation,and the difference was statistically significant(P=0.019).OS,EFS and DFS of matched unrelated HSCT were significantly better than mismatched unrelated HSCT(P values were 0.045,0.001 and 0.009,respectively).EFS and DFS of patients without fungus infections after transplantation were better than that of patients with fungus infections,the difference were statistically significant(P values were 0.02 and 0.04,respectively).Conclusion: HIGM was the only therapy to cure HIGM at present.The effect of allo-HSCT in Children’s Hospital of Chongqing Medical University had reached the international advanced level.Patients should receive allo-HSCT at an early stage if possible.MAC based on BU and CY was regarded as the first choice of conditioning regimen for patients with good tolerance.HLA matched transplantation was associated with better EFS.Most of the deaths occurred in the early stage after transplantation,mainly caused by GVHD and infections.The low incidence of Pneumocystis and Cryptosporidium infection might be one of the advantages of HSCT therapy in China.Patients with severe JCV infection might lose the opportunity of allo-HSCT and associated with bad prognosis.Patients without fungus infections after transplantation got better EFS and DFS than those complicated with fungus infections.However,this study was a retrospective study of single disease with small sample size and limited follow-up time in a single center.New samples should be included in the future and followed for a long time.Retrospective analysis and prospective trials are needed to provide scientific evidence for clinical practice. |
