Résultat de recherche

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

Jean-Laurent CASANOVA

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Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.

Alexandre Alcaïs

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Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.

Jean-Laurent CASANOVA

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Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Jean-Laurent CASANOVA

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An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation.

Laurent Abel

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Deciphering the genetic control of gene expression following Mycobacterium leprae antigen stimulation.

Aurélie Cobat

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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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Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

Jean-Laurent CASANOVA

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A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy.

Alexandre Alcaïs

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Population Pharmacokinetic Modeling of Tenofovir in the Genital Tract of Male HIV-Infected Patients.

Aurélie Cobat

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A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.

Laurent Abel

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Exome and genome sequencing for inborn errors of immunity.

Jean-Laurent CASANOVA

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