Title |
Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report
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Published in |
Pediatric Rheumatology, July 2017
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DOI | 10.1186/s12969-017-0188-7 |
Pubmed ID | |
Authors |
Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski, Sylwia Kołtan |
Abstract |
Pediatric autoinflammatory diseases are rare and still poorly understood conditions resulting from defective genetic control of innate immune system, inter alia from anomalies of NOD2 gene. The product of this gene is Nod2 protein, taking part in maintenance of immune homeostasis. Clinical form of resultant autoinflammatory condition depends on NOD2 genotype; usually patients with NOD2 defects present with Blau syndrome, NOD2-associated autoinflammatory disease (NAID) or Crohn's disease. We present the case of a 7-year-old girl with co-existing symptoms of two rare diseases, Blau syndrome and NAID. Overlapping manifestations of two syndromes raised a significant diagnostic challenge, until next-generation molecular test (NGS) identified presence of three pathogenic variants of NOD2 gene: P268S, IVS8+158, 1007 fs, and established the ultimate diagnosis. Presence of multiple genetical abnormalities resulted in an ambiguous clinical presentation with overlapping symptoms of Blau syndrome and NAID. Final diagnosis of autoinflammatory disease opened new therapeutic possibilities, including the use of biological treatments. |
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Geographical breakdown
Country | Count | As % |
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Unknown | 55 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Other | 7 | 13% |
Student > Bachelor | 7 | 13% |
Student > Ph. D. Student | 6 | 11% |
Researcher | 6 | 11% |
Student > Postgraduate | 5 | 9% |
Other | 10 | 18% |
Unknown | 14 | 25% |
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Biochemistry, Genetics and Molecular Biology | 4 | 7% |
Psychology | 3 | 5% |
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Agricultural and Biological Sciences | 1 | 2% |
Other | 8 | 15% |
Unknown | 15 | 27% |