For advances in donor selection,graft manipulation, conditioning regimens and treatment of complications, HSCT is an established curative treatment.Sometime HSCT cannot guarantee definitive cure but good control and life quality to patient.
We present 2 pediatric cases with LRBA deficiency and SMARCD2 defect,with recurrent invasive bacterial and fungal infections.Because of the seriousness of the conditions,despite a debated indication to HSCT,it was decided to graft them.
LRBAdeficiency should be considered as high risk disease,especially in children with early-onset hypogammaglobulinemia,severe autoimmune manifestations,enteropathy,multifocal liver cirrhosis, lymphoproliferation,recurrent respiratory tract infections.SMARCD2 patients are characterized by neutropenia and specific granule deficiency.HSCTs were given after Treosulfan oriented protocol conditioning in LRBA child and i.v. Busulphan myeloablative agent in SMARCD2 child and both received prophylaxis for GvHD.The high number of MUDCD34+cells(>10x106/Kg) infused with a controlled number of CD3+cells(30x106/Kg) were the key of rapid engraftment with minimal GvHD in LRBA,while the SMARCD2 child had a matched family donor.Neutrophil and platelet engraftments were at 12 and 17days,respectively.There wasn’t episode of serious conditioning-related toxicity.
The HSCT benefits,namely control of infections,normal growth and improvement in quality of life with drastic reduction of medications were our major achievement.In contrast the non-transplanted patients remain on lifelong antimicrobial and antifungal prophylaxis,with a consistent risk of infections due to resistant strains that in most cases require hospitalization.Moreover in both pathologies autoimmune phenomena are frequent.For critically patients,transplantation is risky. Often,HSCT is postponed until the patient ends up in clinical conditions that contraindicate HSCT.If transplantation is delayed,the risk of severe infections,GvHD and other serious transplant related complications significantly increase.