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TICAM1 deficiency

Tuesday 10 April 2012

TICAM1 deficiency (TRIF deficiency)

Autosomal recessive (AR) UNC-93B and TLR3 deficiencies and autosomal dominant (AD) TLR3 and TRAF3 deficiencies underlie HSE in some children.

The TRIF-dependent TLR4 and DExD/H-box helicase pathways are largely redundant in host defense.

TRIF is important for the TLR3-dependent production of antiviral IFNs in the CNS during primary infection with HSV-1 in childhood.

Pathology

- Herpes simplex encephalitis (HSE)

  • Herpes simplex encephalitis (HSE) is the most common sporadic viral encephalitis of childhood.

References

- Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. Sancho-Shimizu V, PĂ©rez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, Fabrega S, Cardon A, Maluenda J, Tatematsu M, Mahvelati F, Herman M, Ciancanelli M, Guo Y, AlSum Z, Alkhamis N, Al-Makadma AS, Ghadiri A, Boucherit S, Plancoulaine S, Picard C, Rozenberg F, Tardieu M, Lebon P, Jouanguy E, Rezaei N, Seya T, Matsumoto M, Chaussabel D, Puel A, Zhang SY, Abel L, Al-Muhsen S, Casanova JL. J Clin Invest. 2011 Dec;121(12):4889-902. PMID: 22105173 [Free]

Portfolio

  • Toll-like receptor pathways