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The molecular basis of the incomplete penetrance of monogenic disorders is unclear. We describe here eight related individuals with autosomal recessive TIRAP deficiency. Life-threatening staphylococcal disease occurred during childhood in the proband, but not in the other seven homozygotes. Responses to all Toll-like receptor 1/2 (TLR1/2), TLR2/6, and TLR4 agonists were impaired in the fibroblasts...
Les patients avec déficits immunitaires héréditaires présentent des infections graves ou récidivantes causées par de nombreux pathogènes. Plus de cent cinquante déficits immunitaires héréditaires différents ont été décrits à l’heure actuelle [1]. Cependant, seuls certains d’entre eux prédisposent à développer des infections invasives (méningite ou choc septique) à pneumocoque : certains défauts du...
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