Publications and ressources

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.

Laurent Abel , Gaspard Kerner, Aurélie Cobat

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A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Jacinta Bustamante , Jean-Laurent CASANOVA , Laurent Abel

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CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Laurent Abel

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Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Jean-Laurent CASANOVA

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BRIP1 coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease.

Laurent Abel

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A novel genetic architecture of infectious diseases.

Laurent Abel

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Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.

Isabelle André, Marina Cavazzana, Geneviève de Saint Basile, Fernando Sepulveda

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An Optimized Lentiviral Vector Efficiently Corrects the Human Sickle Cell Disease Phenotype.

Annarita Miccio

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A Nontoxic Transduction Enhancer Enables Highly Efficient Lentiviral Transduction of Primary Murine T Cells and Hematopoietic Stem Cells.

Marianne DELVILLE, Adeline DENIS, Chantal LAGRESLE-PEYROU, Marina Cavazzana, Isabelle André, Emmanuelle SIX

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Loss of ARHGEF1 causes a human primary antibody deficiency.

Marina Cavazzana, Isabelle André, Anne DURANDY, Alain Fischer, Sven KRACKER

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Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.

Chantal LAGRESLE-PEYROU, Geneviève de Saint Basile, Marina Cavazzana, Isabelle André

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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

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A novel, highly potent and selective phosphodiesterase-9 inhibitor for the treatment of sickle cell disease.

Olivier Hermine, Thiago Trovati Maciel

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Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Nadia Bahi-Buisson, Camille Maillard

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TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.

Corinne Antignac, Guillaume Dorval, Olivier Gribouval, Olivia Boyer, Alexandre Benmerah , Géraldine Mollet

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