title: Autoimmune thyroiditis after bone marrow transplantation in a boy with Wiskott-Aldrich syndrome.
abstract: We report a boy with Wiskott-Aldrich syndrome (WAS) who developed autoimmune thyroiditis 19 months after allogenic bone marrow transplantation (BMT). Possible causes of his autoimmune illness were 1) transference of autoimmune cells from the donor, which was ruled out because of the absence of autoimmune illness in his healthy HLA-identical brother (donor); 2) persistent mixed chimerism after BMT ruled out by post-BMT molecular analysis of the proband's peripheral lymphocytes; and 3) patient's predisposition to autoimmune disease secondary to an dysregulated immune system because of WAS and his HLA haplotype. This case brings previously unreported findings to the spectrum of WAS.
authors.affiliation: Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza c/Domingo Miral s/n 50009 Zaragoza, Spain. olivares@posta.unizar.es
authors.forename: José L
authors.initials: JL
authors.lastname: Olivares
authors.forename: Feliciano J
authors.initials: FJ
authors.lastname: Ramos
authors.forename: Teresa
authors.initials: T
authors.lastname: Olivé
authors.forename: Cristina
authors.initials: C
authors.lastname: Fillat
authors.forename: Manuel
authors.initials: M
authors.lastname: Bueno
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D016026:Bone Marrow Transplantation / Q000009:adverse effects*; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005091:Exons; D006801:Humans; D008297:Male; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D013967:Thyroiditis, Autoimmune / Q000209:etiology* / Q000235:genetics; D014184:Transplantation, Homologous; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics / Q000628:therapy*; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein