Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
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Enzyme
Compound
Query: UMLS:C0079731 (
B-cell lymphoma
)
16,671
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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).
...
PMID:Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia. 1552 12
