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Chronic Aichi virus infection as a cause of long-lasting multi-organ involvement in patients with primary immune deficiencies

Archive ouverte | Fourgeaud, Jacques | CCSD

International audience. BackgroundMetagenomic Next Generation Sequencing (mNGS) was used to assess patients with primary or secondary Immune Deficiencies (PIDs and SIDs) presenting with immunopathological conditions...

NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells

Archive ouverte | Delage, Laure | CCSD

International audience. Loss of NBEAL2 function leads to grey platelet syndrome (GPS), a bleeding disorder characterized by macro-thrombocytopenia and α-granule-deficient platelets. A proportion of patients with GPS...

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Archive ouverte | Boussard, Charlotte | CCSD

International audience. Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. This is highlighted by the DOCK2 and DOCK8 deficiencies leading to actinopathies and immune defi...

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