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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies

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Autor(es):
Paim-Marques, Luciana B. [1, 2] ; Cavalcante, Amanda [3] ; Castro, Catherine [3] ; Muskardin, Theresa L. Wampler [4, 5, 6] ; de Oliveira, Joao Bosco [7] ; Niewold, Timothy B. [4, 5] ; Appenzeller, Simone [8, 9]
Número total de Autores: 7
Afiliação do(s) autor(es):
[1] Albert Sabin Childrens Hosp, Pediat Rheumatol Unit, Fortaleza, Ceara - Brazil
[2] Univ Florida, Dept Pediat, Pediat Immunol Rheumatol Unit, Gainesville, FL - USA
[3] Ceara Publ Hlth Sch, Fortaleza, Ceara - Brazil
[4] NYU, Sch Med, Dept Med, Colton Ctr Autoimmun, New York, NY - USA
[5] NYU, Sch Med, Dept Pediat, New York, NY - USA
[6] NYU, Dept Med, Sch Med, Div Rheumatol, New York, NY - USA
[7] Genomika, Clin Genet & Immunol Lab, Recife, PE - Brazil
[8] Univ Estadual Campinas, UNICAMP, Sch Med Sci, Sao Paulo - Brazil
[9] Univ Estadual Campinas, Fac Med Sci, Dept Med, BR-13083970 Campinas, SP - Brazil
Número total de Afiliações: 9
Tipo de documento: Artigo de Revisão
Fonte: RHEUMATOLOGY INTERNATIONAL; v. 41, n. 1 AUG 2020.
Citações Web of Science: 0
Resumo

Cryopyrin-associated periodic syndromes (CAPS) are a group of autoinflammatory diseases associated with NLRP3 gain of function mutations. CAPS associated mutations are found predominantly in exon 3. The objective of this study is to describe a new variant on NRLP3 gene and its phenotype. Case report description of a new NRLP3 pathogenic variant and literature case-based search through INFEVERS database. A 21-year old male who presented multiple tonic-clonic seizures on his 3rd day of life. At age 2, he had recurrent central facial palsy, high fever (40 degrees C), painful and persistent oral ulcers, abdominal pain, nausea and vomiting, and delayed neuropsychomotor development, with polyarthritis in wrists and knees. Over the years, several symptoms were observed: livedo reticularis, Raynaud's phenomenon, positive pathergy test, heat allodynia, extremely painful genital ulcers, and sporadic conjunctivitis. Laboratory studies revealed persistently elevated inflammatory markers and serum amyloid protein A (30 mu g/l). The genetic panel for autoinflammatory diseases revealed heterozygous mutation in the NLRP3, (c.2068G > C, p.E690Q) with 0% of frequency in the general population. The patient denies rash and did not have frontal bossing or patellar overgrowth. We found a positive familial history on mother and brother, who carried the same mutation. The patient was started on canakinumab which controlled his symptoms. Currently, 241 missense variants in the NLRP3 have been described. We presented a new mutation in exon 3 of the NRLP3 gene in a patient that fulfills clinical criteria for CAPS who had complete clinical response to Canakinumab, supporting the idea that this mutation is pathogenic. (AU)

Processo FAPESP: 08/02917-0 - Determinação de marcadores séricos e do líquor associados a alterações estruturais e funcionais do sistema nervoso central no lúpus eritematoso sistêmico
Beneficiário:Simone Appenzeller
Linha de fomento: Auxílio à Pesquisa - Apoio a Jovens Pesquisadores
Processo FAPESP: 09/15286-1 - Prevalência e fatores associados à sindrome metabolica no lupus eritematoso sistemico juvenil
Beneficiário:Nailú Angélica Sinicato Martin
Linha de fomento: Bolsas no Brasil - Iniciação Científica
Processo FAPESP: 09/06049-6 - Determinação de marcadores séricos e do líquor associados a alterações estruturais e funcionais do sistema nervoso central no Lúpus eritematoso sistêmico
Beneficiário:Simone Appenzeller
Linha de fomento: Bolsas no Brasil - Apoio a Jovens Pesquisadores
Processo FAPESP: 13/07559-3 - Instituto Brasileiro de Neurociência e Neurotecnologia - BRAINN
Beneficiário:Fernando Cendes
Linha de fomento: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs