Fatal lymphoproliferative disorder in a child with schimke immuno-osseous dysplasia

Doris Taha, Cornelius F. Boerkoel, John Williamson Balfe, Mohammed Khalifah, Emily A. Sloan, Maha Barbar, Abdulrazzaq Haider, Hassan Kanaan

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10 Scopus citations


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).

Original languageEnglish
Pages (from-to)194-199
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume131 A
Issue number2
StatePublished - Dec 1 2004


  • B-cell lymphoma
  • Fever of unknown origin
  • Lymphoproliferative disorder
  • Spondyloepiphyseal dysplasia
  • T-cell mediated immunodeficiency


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