Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC)

Abstract Background Gain of function (GOF) mutations in NOD-like receptor family CARD-containing 4 protein (NLRC4) gene induce a wide spectrum of autoinflammatory phenotypes. Currently, we categorize them into four groups: familial cold autoinflammatory syndrome (FCAS)4, autoinflammatory infantile e...

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Detalhes bibliográficos

Principais autores:	Kosar Asna Ashari, Nima Parvaneh, Kayvan Mirnia, Mehri Ayati, Maryam Saeedi, Farhad Salehzadeh, Mohammad Shahrooei, Razieh Sangsari, Pejman Rohani, Vahid Ziaee
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-10-01
coleção:	Pediatric Rheumatology Online Journal
Assuntos:	NLRC4 Familial cold autoinflammatory syndrome FCAS4 Autoinflammatory infantile enterocolitis AIFEC NLRC4-macrophage associated syndrome
Acesso em linha:	https://doi.org/10.1186/s12969-024-01020-z
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