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The coronavirus disease 2019 pandemic has made us adjust our standards and cope with unpredictable circumstances affecting the whole world, including the medical field. A 2-year-old boy diagnosed with X-linked lymphoproliferative disease type 2 with concomitant positive polymerase chain reaction test for Epstein-Barr virus-DNA was admitted to our transplant ward. His treatment scheme had to be modified at the last moment because of a donor disqualification due to a positive polymerase chain reaction result for severe acute respiratory syndrome coronavirus 2 just before the apheresis. We decided to perform salvage haploidentical bone marrow transplant from the patient's mother because it was the only possible option. Now, in a 5-month observation period after the hematopoietic stem cell transplantation, our patient is in good general condition. His case convinced us to redirect our approach to transplant procedure preparation. Following the European Group of Blood and Marrow Transplantation recommendations, we use cryopreserved apheresis materials to ensure the availability of stem cell products before the start of a conditioning regimen.

We present a case report of a boy diagnosed with both chronic granulomatous disease (CGD) and familial celiac disease (CD) who underwent cord blood transplantation from a partially matched sibling donor. The presentation of CD resembled Crohn-like enteropathy, which is a canonical manifestation of CGD. Nearly 1 year post-hematopoietic stem cell transplantation (HSCT), a gluten-containing diet was reintroduced, and no reappearance of clinical, serologic, or histologic markers of CD was observed. The relatively high incidence of rare genetic diseases in pediatric patients suggests the need for additional caution in the interpretation of symptoms mimicking already known hallmarks of more common conditions. In addition, the presented data confirm the previous rare observations that allogeneic HSCT leads to durable induction of gluten tolerance in patients with CD, which can warrant its use in patients with refractory subtypes of CD.

Background Allogeneic hematopoietic stem cell transplantation (alloHSCT) could induce several complications. The most frequent viral infections and graft-vs-host disease (GvHD) sometimes lead to thrombotic microangiopathy (TMA). It is associated with significant morbidity and mortality with the risk of death reaching 90%. Effective prevention and treatment are not available to date. Recent attempts at using antibody against C5 have been made. Case report A 19-year-old girl with acute myeloid leukemia twice underwent alloHSCTs from her 10/10 HLA-matched sister. After the second HSCT severe acute steroid-resistant grade 4 GvHD occurred. Despite treatment with high doses of steroids, mycophenolate mofetil, biological therapy, and extracorporeal photopheresis, the patient developed TMA with acute kidney injury and the need for renal replacement therapy. The concentration of complement component 3 and activity of ADAMTS 13 were normal, and infection with Escherichia coli (E. coli) 0157H7 was excluded. Due to failure of all ordered therapies and severity of the condition, an attempt was taken to use eculizumab. Two 900-mg doses of eculizumab (Soliris) were administered at an interval of 2 weeks, which resulted in the improvement of renal function and amelioration of hemolysis and thrombocytopenia. Dialysis therapy was finished after 5 weeks, and then a third dose of the drug was administered. Eighteen months later, the patient is alive and well, with limited chronic GvHD. eGFR remains stable at 40 to 46 mL/min/1.73 m2, and mild hypertension requires treatment with angiotensin converting enzyme inhibitors and furosemide. Conclusion Even a short course of eculizumab can be sufficient in controlling the TMA after HSCT, provided that the TMA-triggering factors are well controlled.

Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder classified as non-Langerhans cell histiocytosis; although it is usually a benign and self-limiting disease, it can be fatal in some cases, especially with systemic dissemination. We present a case report of a boy with therapy-resistant disseminated JXG who was treated with systemic chemotherapy and received 3 allogeneic hematopoietic stem cell transplantations (allo-HSCTs) from an unrelated donor. The post-transplant period was complicated by acute graft vs host disease and lymphoproliferative disease caused by Epstein-Barr virus. Currently, almost 7.5 years after the first transplantation, the boy is in complete remission with full donor chimerism and without symptoms of JXG. The presented data confirm rare observations that allo-HSCT can lead to durable remission of systemic JXG, which warrants its use in life-threatening, therapy-resistant subtypes of disease.

Background X-linked immunodysregulation syndrome with polyendocrinopathy and enteropathy (IPEX) is caused by FOXP3 gene mutations that block the generation of regulatory T lymphocytes. We report an 18-month-old boy with classic IPEX who underwent 2 hematopoietic stem cell transplantations (HSCTs). Methods The first HSCT from an unrelated 8/10 HLA-matched umbilical cord blood donor (UCB) was performed after a conditioning regimen consisting of treosulfan, fludarabine, thiotepa, and thymoglobulin. Due to complete rejection of the UCB transplant, a second transplantation from a 6/10 HLA-matched mother was performed after alpha-beta T-cell depletion. The second conditioning regimen consisted of busulfan, fludarabine, a single dose of cyclophosphamide 1 g/m2, and Grafalon (Neovii Pharmaceuticals, Rapperswil, Switzerland). The T-cell depletion product contained 15.06 x 106 CD34+ cells per kilogram body weight (BW) and 4.19 x 105 alpha-beta T lymphocytes per kilogram BW. Due to acute graft rejection, the boy was treated with thymoglobulin, and full donor chimerism in both T lymphocytes and mononuclear cells was achieved. The immunosuppressive therapy was stopped 1 year after transplantation. To date, the patient remains free from graft-vs-host disease (GVHD) and immunosuppression. Conclusions HSCT after busulfan-based reduced-toxicity conditioning in patients with IPEX syndrome is feasible and well tolerated and can result in full donor engraftment. Monitoring of chimerism and aggressive therapy in cases of graft rejection are warranted due to the high reactivity of residual autologous T lymphocytes. T-cell depletion reduces the risk of GVHD and the need for steroid therapy, which is especially challenging in patients with diabetes.

Thymidine ( 3 H-TdR) incorporation remains the most commonly used method to quantifying T-cell proliferation. This method, however, does not provide information about specific lymphocyte subpopulations responding to different stimuli. In our study, we modified previously described nonradioactive flow-cytometric T-cell activation assay measuring the expression of a CD69+ antigen on T-cell subsets and applied it to analysis of lymphocyte subsets activation/proliferation in children after allogeneic hematopoietic cell transplantation (HCT). We compared the percentage of spontaneously activated lymphocyte subpopulations (background) and the percentage of PHA-P, PWM, and SEB—stimulated cell subsets from two groups of patients: group 1, children with Graft versus Host Disease (GvHD) and group 2, children without any signs of GvHD at the time of analysis. High rate of spontaneous T-cell subset activation was found in group 1 with CD3+CD8+Ts cells being the most affected cell population. High background activation of Th and B cells correlated with the occurrence of autoimmune phenomena posttransplant. Rapid quantification of CD69+ expression on unstimulated and stimulated T-cell subsets proved to be a valuable method for monitoring children after allogeneic HCT. High proportion of activated, unstimulated Ts cells observed in the GvHD group may underline the critical role of CD3+CD8+ cells in the pathogenesis of GvHD. Thus in future immunosuppressive therapy may be adjusted according to the proportion of activated Ts cells.