Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.
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).
Taha
Doris
D
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Jeddah, Saudi Arabia. dtaha@kfshrc.edu.sa
Boerkoel
Cornelius F
CF
Balfe
John Williamson
JW
Khalifah
Mohammed
M
Sloan
Emily A
EA
Barbar
Maha
M
Haider
Abdulrazzaq
A
Kanaan
Hassan
H
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