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
