title: Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.
abstract: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, nephrotic syndrome, and cell-mediated immunodeficiency. Mutations in the SMARCAL1 gene (SW1/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like1) cause SIOD. We report a patient with SIOD and SMARCAL1 mutations, who presented with fever of unknown origin secondary to B-cell lymphoma. To our knowledge, this is the first report of an SIOD patient with a primary lymphoproliferative disorder (LPD).
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Jeddah, Saudi Arabia. dtaha@kfshrc.edu.sa
authors.forename: Doris
authors.initials: D
authors.lastname: Taha
authors.forename: Cornelius F
authors.initials: CF
authors.lastname: Boerkoel
authors.forename: John Williamson
authors.initials: JW
authors.lastname: Balfe
authors.forename: Mohammed
authors.initials: M
authors.lastname: Khalifah
authors.forename: Emily A
authors.initials: EA
authors.lastname: Sloan
authors.forename: Maha
authors.initials: M
authors.lastname: Barbar
authors.forename: Abdulrazzaq
authors.initials: A
authors.lastname: Haider
authors.forename: Hassan
authors.initials: H
authors.lastname: Kanaan
mesh_terms: D001848:Bone Diseases, Developmental / Q000150:complications*; D002675:Child, Preschool; D017809:Fatal Outcome; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications*; D016393:Lymphoma, B-Cell / Q000150:complications*; D008297:Male