Resources

Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses.

Claire Barbieux, Mathilde Bonnet des Claustres, Olivier Gouin, Florent Leturcq, Christine Bole, Vivien Beziat, Alain Hovnanian

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A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis.

Camille DE CEVINS, Marine LUKA, Sonia MEYNIER, Aude Magerus, Laura BARNABEI, Alexandre BOULLE, Marie-Claude Stolzenberg, Vithura PIRABAKARAN, Quentin Riller, Ghaith ABDESSALEM, Mohammed ZARHRATE, Mélanie Parisot, Camille BRUNAUD, Shen-Ying Zhang, Jean-Laurent CASANOVA , Brigitte Bader-Meunier, Isabelle Melki, Damien Bonnet, Slimane Allali, Loïc de Pontual, Alain Fischer, Frédéric Rieux-Laucat

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Intestinal immunoregulation: lessons from human mendelian diseases.

Fabienne CHARBIT-HENRION, Marianna Parlato, Georgia MALAMUT, Frank RUEMMELE, Nadine CERF-BENSUSSAN

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Heart Development and Congenital Structural Heart Defects.

Sigolène Meilhac

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Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.

Marine Madrange, Corinne Lebreton, Olivier Pellé

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Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease

Alice Lepelley, Yanick Crow

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JAK inhibition in the type I interferonopathies.

Yanick Crow , Marie-Louise Frémond

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Alternative pathways for the development of lymphoid structures in humans.

Nathalie Boddaert, Claude Griscelli, Bénédicte Neven, Alain Fischer

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Single-cell transcriptomics of the early developing mouse cerebral cortex disentangle the spatial and temporal components of neuronal fate acquisition.

Yoann Saillour, Andrzej W Cwetsch, Alessandra Pierani, Frédéric Causeret

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Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome

Nicolas Garcelon, Rima NABBOUT, Mathieu Kuchenbuch , Antoine Neuraz

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A DL-4- and TNFα-based culture system to generate high numbers of nonmodified or genetically modified immunotherapeutic human T-lymphoid progenitors.

Kuiying MA, Sabrina LIZOT, Juliette OLIVRÉ, Corinne de Chappedelaine, Akshay JOSHI, Antonio Rausell, Laura SIMONS, Julien ZUBER, Emmanuelle SIX, Marina Cavazzana, Chantal LAGRESLE-PEYROU, Isabelle André

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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.

Maya Chrabieh, Jérémie Rosain, Gaspard Kerner, Vivien Beziat, Jacinta Bustamante , Bertrand Boisson, Laurent Abel , Stéphanie Boisson-Dupuis, Jean-Laurent CASANOVA

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The multiple facets of Cajal-Retzius neurons.

Frédéric Causeret, Alessandra Pierani, Matthieu Moreau

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Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis

Marc Vincent, Nicolas Garcelon, Sophie Saunier

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Polyclonal expansion of TCR Vbeta 21.3+ CD4+ and CD8+ T cells is a hallmark of Multisystem Inflammatory Syndrome in Children.

Paul Bastard, Shen-Ying Zhang, Laurent Abel , Jean-Laurent CASANOVA

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