title: Development of common variable immunodeficiency in a patient with Evans syndrome treated by autologous stem cell transplantation.
abstract: We describe a case report of a patient who developed common variable immunodeficiency (CVID) after autologous haematopoietic stem cell transplantation (SCT) for recurrent Evans syndrome. The disease manifested as attacks of haemolytic anaemia, thrombocytopenia and neutropenia from the age of 12 years. Presence of autoantibodies to blood elements was confirmed together with C4 deficiency. The patient also suffered from dermatitis herpetiformis Duhring without signs of coeliac disease. Autologous T cell-depleted peripheral blood stem cell (PBSC) transplant following conditioning regimen was performed at the age of 20 years. Immunological reconstitution was incomplete and 2 years after SCT he fulfilled laboratory criteria for common variable immunodeficiency (CVID). The patient was found to be a carrier of a risk haplotype for development of CVID DRB1*03/DQB1*0201. We conclude that T cell-depleted SCT here performed for autoimmune manifestations can hasten development of CVID in genetically predisposed patients.
authors.affiliation: 2nd Department of Pediatrics, University Hospital Motol, Charles University, Prague, Czech Republic. jan.stary@lfmotol.cuni.cz
authors.forename: Jan
authors.initials: J
authors.lastname: Starý
authors.forename: Petr
authors.initials: P
authors.lastname: Sedlácek
authors.forename: Sárka
authors.initials: S
authors.lastname: Vodvárková
authors.forename: Zdenka
authors.initials: Z
authors.lastname: Gasová
authors.forename: Jirina
authors.initials: J
authors.lastname: Bartůnková
mesh_terms: D000744:Anemia, Hemolytic, Autoimmune / Q000276:immunology / Q000628:therapy*; D002648:Child; D017074:Common Variable Immunodeficiency / Q000209:etiology* / Q000276:immunology; D003874:Dermatitis Herpetiformis / Q000276:immunology / Q000628:therapy; D006801:Humans; D007074:Immunoglobulin G / Q000276:immunology; D008297:Male; D009503:Neutropenia / Q000276:immunology / Q000628:therapy*; D011183:Postoperative Complications / Q000209:etiology / Q000276:immunology; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000276:immunology / Q000628:therapy*; D033581:Stem Cell Transplantation; D013577:Syndrome; D013601:T-Lymphocytes / Q000276:immunology / Q000637:transplantation; D014182:Transplantation, Autologous
chemical_list: D007074:Immunoglobulin G