title: MHC class II deficiency cured by unrelated mismatched umbilical cord blood transplantation: case report and review of 68 cases in the literature.
abstract: MHC class II deficiency is a rare and fatal form of primary combined immunodeficiency caused by a lack of T-cell-dependent humoral and cellular immune response to foreign antigens, which can only be cured by allogenic stem cell transplantation. In the literature search, we identified 68 cases of HSCT in MHC class II deficiency in the last 14 yr. Pre- and post-transplant MHC class II deficiency is complicated by overwhelming viral infections, a high incidence of GvHD, and graft failure with a poor overall survival rate below 50%. We report an eight-month-old boy presenting with severe respiratory infections and chronic diarrhea, whose sister died at the age of four yr from septicemia. MHC II deficiency was caused by an RFXANK-mutation and treated successfully by 4/6 mismatched unrelated CBT after a myeloablative conditioning regimen based on anti-thymocyte globulin, busulfane, fludarabine, and cyclophosphamide. At present, our patient is well with full immune reconstitution 3(4/12) yr after CBT. CB may represent an alternative source of stem cells for children with MHC class II deficiency without a suitable donor.
authors.affiliation: Department of Pediatric Hematology, Oncology and Clinical Immunology, University Hospital Duesseldorf, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Siepermann
authors.forename: S
authors.initials: S
authors.lastname: Gudowius
authors.forename: K
authors.initials: K
authors.lastname: Beltz
authors.forename: U
authors.initials: U
authors.lastname: Strier
authors.forename: O
authors.initials: O
authors.lastname: Feyen
authors.forename: A
authors.initials: A
authors.lastname: Troeger
authors.forename: U
authors.initials: U
authors.lastname: Göbel
authors.forename: H J
authors.initials: HJ
authors.lastname: Laws
authors.forename: G
authors.initials: G
authors.lastname: Kögler
authors.forename: R
authors.initials: R
authors.lastname: Meisel
authors.forename: D
authors.initials: D
authors.lastname: Dilloo
authors.forename: T
authors.initials: T
authors.lastname: Niehues
mesh_terms: D005312:Fetal Blood / Q000637:transplantation*; D005500:Follow-Up Studies; D006085:Graft Survival; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D000949:Histocompatibility Antigens Class II / Q000235:genetics / Q000276:immunology*; D006650:Histocompatibility Testing; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000601:surgery*; D007223:Infant; D008297:Male; D018570:Risk Assessment; D012720:Severity of Illness Index; D019172:Transplantation Conditioning / Q000379:methods; D014184:Transplantation, Homologous; D016896:Treatment Outcome
chemical_list: D000949:Histocompatibility Antigens Class II