Publications and ressources

Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.

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Intracellular offspring released from SFB filaments are flagellated.

Nadine CERF-BENSUSSAN

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Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Jean-Laurent CASANOVA , Emmanuelle Jouanguy, Laurent Abel

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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Jean-Laurent CASANOVA

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Cross-kingdom mimicry of the receptor signaling and leukocyte recruitment activity of a human cytokine by its plant orthologs.

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Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.

Geneviève de Saint Basile, Alain Fischer, Fernando Sepulveda , Frédéric Guérin

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Chronic inflammation in the etiology of disease across the life span.

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Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.

Jean-Laurent CASANOVA , Laurent Abel

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Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.

Jean-Laurent CASANOVA

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Mutations in PERP Cause Dominant and Recessive Keratoderma.

Alain Hovnanian

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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Corinne Antignac, Matias Simons, Patrick Nitschké, Christine Bole, Olivier Gribouval, Olivia Boyer

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Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells.

Sven KRACKER, Alain Fischer, Bénédicte Neven, Sylvain Latour

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FAS and RAS related Apoptosis defects: From autoimmunity to leukemia.

Frédéric Rieux-Laucat

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Trpv4 Mediates Hypotonic Inhibition of Central Osmosensory Neurons via Taurine Gliotransmission.

Sorana CIURA

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Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Jean-Laurent CASANOVA

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