Article
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.
The Journal of clinical investigation - 1 Dec 2011
Sancho-Shimizu Vanessa, Pérez de Diego Rebeca, Lorenzo Lazaro, Halwani Rabih, Alangari Abdullah, Israelsson Elisabeth, Fabrega Sylvie, Cardon Annabelle, Maluenda Jerome, Tatematsu Megumi, Mahvelati Farhad, Herman Melina, Ciancanelli Michael, Guo Yiqi, AlSum Zobaida, Alkhamis Nouf, Al-Makadma Abdulkarim S, Ghadiri Ata, Boucherit Soraya, Plancoulaine Sabine, Picard Capucine, Rozenberg Flore, Tardieu Marc, Lebon Pierre, Jouanguy Emmanuelle, Rezaei Nima, Seya Tsukasa, Matsumoto Misako, Chaussabel Damien, Puel Anne, Zhang Shen-Ying, Abel Laurent, Al-Muhsen Saleh, Casanova Jean-Laurent
Abstract excerpt
Herpes simplex encephalitis (HSE) is the most common sporadic viral encephalitis of childhood. Autosomal recessive (AR) UNC-93B and TLR3 deficiencies and autosomal dominant (AD) TLR3 and TRAF3 deficiencies underlie HSE in some children. We report here unrelated HSE children with AR or AD TRIF deficiency. The AR form of the disease was found to be due to a homozygous nonsense mutation that resulted in a complete...
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