Treosulfan-based conditioning in DOCK8 deficiency: Complete lympho-hematopoietic reconstitution with minimal toxicity

摘要

Autosomal-recessive Hyper IgE syndrome (HIES) has been attributed to mutations in the dedicator of cytokinesis 8 (DOCK8) gene causing combined immunodeficiency [1], HIES patients suffer from recurrent sino-pulmonary and skin infections, atopy, viral infections and chronic muco-cutaneous candidiasis. In addition to infectious complications a higher propensity for developing malignancies contributes to HIES-associated morbidity and mortality [2]; till now, however, only few case reports have addressed allogeneic hematopoietic stem cell transplantation (HSCT) in DOCK8 deficient patients [3-7].