Twenty year follow up of a patient with a new de-novo NLRP3 mutation (S595G) and CINCA syndrome
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
Abstract
We report on a 22-year-old girl with a history of recurrent febrile episodes, chronic arthritis, urticarial rash, and neurological symptoms including right hemiparesis, internal hydrocephalus, mental retardation, progressive deafness, and visual impairment. Treatment starting at age 20 months, including different combinations of immunosuppressive and antiinflammatory drugs such as corticosteroids and anti-TNFα antibody, was unsuccessful. Four years ago, we found a heterozygous S595G mutation in the NLRP3 gene of this patient. This prompted us to introduce anakinra, which resulted in considerable improvement of the patient's complaints.
Details
Original language | English |
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Pages (from-to) | 379-381 |
Number of pages | 3 |
Journal | Klinische Pädiatrie : clinical research and practice in pediatrics |
Volume | 221 |
Issue number | 6 |
Publication status | Published - 2009 |
Peer-reviewed | Yes |
External IDs
Scopus | 77449105314 |
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Keywords
Keywords
- autoinflammation, amyloidosis, urticarial rash, hydrocephalus, Autoinflammation, Amyloidose, Urtikaria, Hydrozephalus