A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome
| Autor: | Soumyava Basu, Manas Ranjan Barik, Ruchi Mittal, Bharat Panigrahi, Namrata Gupta, Lubhani Jain, Mamatha M. Reddy, Tom P. Monie |
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| Rok vydání: | 2016 |
| Předmět: |
Pathology
medicine.medical_specialty Sarcoidosis Nod2 Signaling Adaptor Protein Arthritis Sporadic Blau syndrome Uveitis 03 medical and health sciences 0302 clinical medicine NOD2 medicine Humans Point Mutation Immunology and Allergy Child Letter to the Editor Glucocorticoids Synovitis business.industry Point mutation Exons Sequence Analysis DNA medicine.disease Uveitis Anterior Rash Drug Combinations Ophthalmology Methotrexate Granuloma 030221 ophthalmology & optometry Female medicine.symptom business Immunosuppressive Agents 030215 immunology |
| Zdroj: | Ocular Immunology and Inflammation |
| ISSN: | 1744-5078 0927-3948 |
| DOI: | 10.1080/09273948.2016.1207789 |
| Popis: | We report a 12-year-old girl who presented with bilateral granulomatous anterior uveitis accompanied by boggy arthritis of knee and ankle joints, intermittent fever, and nodular skin rash. She was diagnosed with sporadic Blau syndrome (early-onset sarcoidosis) based on above clinical signs and presence of non-necrotising granuloma on iris biopsy. DNA sequencing revealed a previously unreported heterozygous mutation consisting of a G>A transition in exon 4 of the NOD2 gene. This resulted in a glutamic acid to lysine substitution in helical domain 2 of the nucleotide binding and oligomerization (NACHT) region, possibly reducing efficiency of auto-inhibition in NOD2 signaling. Interestingly, the ocular inflammation resolved completely following therapeutic vitrectomy in both eyes whereas the systemic symptoms of fever and arthritis continued to wax and wane while on treatment with oral methotrexate and corticosteroids. |
| Databáze: | OpenAIRE |
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