A rare case of an NLRP12-associated autoinflammatory disease
| Autor: | Hatice Eren, Ilker Karacan, Mehmet Seven, Ali Y. Ayla, Serdal Ugurlu, Jale Zare, Sevgi S. Calhan |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male medicine.medical_specialty business.industry Arthritis Intracellular Signaling Peptides and Proteins Mutation Missense Familial Mediterranean fever General Medicine medicine.disease Dermatology Autoimmune Diseases Familial Mediterranean Fever Diagnosis Differential Rare case Genetics medicine Humans Polyarthritis Autoinflammatory disease Differential diagnosis business Genetics (clinical) |
| Zdroj: | European Journal of Medical Genetics. 64:104168 |
| ISSN: | 1769-7212 |
| Popis: | Pathogenic variants in nucleotide-binding oligomerization-like receptor protein 12 (NLRP12) have been recently suggested as possible causes of autoinflammatory syndromes and should be considered for the differential diagnosis in the patients presenting with symptoms of autoinflammatory diseases. Here we report a very rare case of NLRP12-associated autoinflammatory disease patient who initially presented with polyarthritis and was diagnosed as FMF. Later, the genetic analysis excluded many autoinflammatory conditions including FMF and revealed a c.1206C>G; p.(Phe402Leu) variant in the NLRP12 gene. Awareness of rare autoinflammatory conditions is important to have the best approach to the patients presenting with common symptoms of autoinflammatory diseases. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect