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We report here unrelated HSE patients with autosomal recessive (AR) or autosomal dominant (AD) TRIF deficiency. The AR form of the disease is due to a homozygous nonsense mutation, resulting in a complete absence of the TRIF protein. Both the TLR3 and the TRIF-dependent TLR4 signaling pathways are a...
ORGANISM(S): Homo sapiens 
The immunopathological landscape of human pre-TCRα deficiency: from rare to common variants
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