IngentaConnect Human leucocyte antigen-identical haematopoietic stem cell transp...

Authors: Renella, Raffaele¹; Picard, Capucine; Neven, Bénédicte¹; Ouachée-Chardin, Marie¹; Casanova, Jean-Laurent¹; Deist, Françoise Le²; Cavazzana-Calvo, Marina³; Blanche, Stéphane¹; Fischer, Alain¹

Source: British Journal of Haematology, Volume 134, Number 5, September 2006 , pp. 510-516(7)

Publisher: Blackwell Publishing

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.

Keywords: MHC class II deficiency; haematopoietic stem cell transplantation; graft-versus-host disease; viral infection

Document Type: Research article

DOI: 10.1111/j.1365-2141.2006.06213.x

Affiliations: 1: Unité d'Immunologie et Hématologie Pédiatrique, Faculté de Médecine Université Réné Descartes 2: Centre d'étude des dèficits immunitaires 3: Département de Biothérapie, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, Paris, France

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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