Human leucocyte antigen‐identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft‐versus‐host disease and pre‐existing viral infections

Abstract
Summary: Major histocompatibility complex class II deficiency, a rare autosomal recessive primary immunodeficiency, is caused by the defective expression of human leucocyte antigen (HLA) class II molecules due to mutated trans‐acting elements of any one of four regulatory genes (CIITA, RFXANK, RFX5, RFXAP). The impaired CD4 T‐cell differentiation and antigen presentation in the periphery results in a severe defect of cellular and humoral response consistent with severe recurrent infections, leading to a poor prognosis. Currently, allogeneic haematopoietic stem cell transplantation (HSCT) is the only curative approach, but the overall cure rate is lower than in other immunodeficiencies. We report a single centre experience of 17 HSCTs with 15 HLA‐identical donors between 1981 and 2004. Eight patients survived, while the occurrence of acute graft‐versus‐host disease (GVHD) was 50%. This study aimed to identify potential risk factors for GVHD and outcome within pre‐HSCT complications related to the immunodeficiency. Five of seven patients with pre‐existing viral infections developed acute GVHD ≥ grade II, of whom four died. Two of seven patients without detectable pre‐existing viral infection developed GVHD ≥ grade II, and one died. The difference was significant (P < 0·05). A plausible link with other factors potentially associated with the development of GVHD could not be found. We suggest that the reduced survival after HLA‐identical HSCT may be caused by the high incidence of pre‐existing viral infections and associated with the onset of severe acute GVHD.

This publication has 17 references indexed in Scilit: