Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0022568 (
keratitis
)
5,133
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
An 11-month-old girl presented with dermatitis, boggy arthritis, and
keratitis
shortly after her hospitalization for bacterial pneumonia. A skin biopsy and genetic testing led to a diagnosis of Blau syndrome. Her symptoms persisted despite a stepwise increase in immune-modulating therapies. Her ocular findings advanced to include bilateral panuveitis, optic disk edema, and hypopigmented
chorioretinitis
. We speculate that the bacterial infection triggered an inflammatory reaction throughout her body that was facilitated by the pathogenic NOD2 variant.
...
PMID:Blau syndrome following a bacterial infection. 3204 78
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