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Arthritis & Rheumatology: First description of delayed autoinflammatory diseases caused by somatic NLRC4 chimera

 Last Update: 2021-11-12
 Source: Internet
 Author: User

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Autoinflammatory disease (AID) is a genetic disease of innate immunity, usually beginning in childhood
.

However, several recent studies have found that more and more adults are beginning to suffer from AID

Autoinflammatory disease (AID) is a genetic disease of innate immunity, usually beginning in childhood

Methods: Using Sanger sequencing and next generation sequencing (NGS) genetic method of science research

Results: Researchers from Spain studied a 57 -year-old woman who began to experience recurrent fever, myalgia, arthralgia, diffuse abdominal pain, diarrhea, adenopathy, and systemic inflammation at the age of 47 , using anti- IL- 1 Drugs control these symptoms relatively well

Conclusion: The investigator has determined that the post-zygotic p.

Ser171Phe NLRC4 variant is a reasonable cause of the condition of the admitted patient

Conclusion: The investigator has determined that the post-zygotic p.
Ser171Phe NLRC4 variant is a reasonable cause of the condition of the admitted patient

Source:

First Description of Late-Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.

Ionescu D, Peñín-Franch A, Mensa-Vilaró A, Castillo P, Hurtado-Navarro L, Molina-López C, Romero-Chala S, Plaza S, Fabregat V, Buján S, Marques J, Casals F, Yagüe J, Oliva B, Fernández-Pereira LM, Pelegrín P, Aróstegui JI.
First Description of Late-Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.
Arthritis Rheumatol.
2021 Oct 20.
doi: 10.
1002/art.
41999.
Epub ahead of print.
PMID: 34672126 .
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