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1789 results found for your search

  • Inherited p40phox deficiency differs from classic chronic granulomatous disease.

    Jacinta Bustamante

    Source :

    J. Clin. Invest.

    2019 Sep 24

    Pmid / DOI:

    29969437

  • A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

    Jean-Laurent CASANOVA

    Source :

    Sci Immunol

    2019 Apr 3

    Pmid / DOI:

    29907691

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

    Jean-Laurent CASANOVA

    Source :

    J. Clin. Immunol.

    2019 Oct 14

    Pmid / DOI:

    29777412

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

    Alexandre Alcaïs

    Source :

    PLoS Negl Trop Dis

    2018 Jun 18

    Pmid / DOI:

    29708969

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

    Jean-Laurent CASANOVA

    Source :

    J. Clin. Invest.

    2019 Sep 16

    Pmid / DOI:

    30395541

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

    Jean-Laurent CASANOVA

    Source :

    Cell

    2019 Jan 21

    Pmid / DOI:

    29474921

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

    Laurent Abel

    Source :

    Sci Rep

    2019 Jul 3

    Pmid / DOI:

    28993696

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

    Aurélie Cobat

    Source :

    PLoS Genet.

    2017 Sep 13

    Pmid / DOI:

    28793313

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

    Jean-Laurent CASANOVA

    Source :

    Am. J. Med. Genet. A

    2019 Nov 20

    Pmid / DOI:

    28488400

  • Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

    Jean-Laurent CASANOVA

    Source :

    J. Am. Coll. Cardiol.

    2017 Jul 10

    Pmid / DOI:

    28359509

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

    Alexandre Alcaïs

    Source :

    PLoS Genet.

    2017 May 26

    Pmid / DOI:

    28222097

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

    Aurélie Cobat

    Source :

    Antimicrob. Agents Chemother.

    2017 Sep 26

    Pmid / DOI:

    27956420