Publications by authors named "Aziz Bousfiha"

27Publications

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.

J Clin Immunol 2020 01 6;40(1):96-104. Epub 2019 Nov 6.

Laboratory of Transmission, Control and Immunobiology of Infections, LR11IPT02 (LTCII), Institut Pasteur de Tunis, 13, place Pasteur, BP74, 1002, Tunis-Belvédère, Tunisia.

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http://dx.doi.org/10.1007/s10875-019-00706-4DOI Listing
January 2020

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis.

J Allergy Clin Immunol 2019 06 19;143(6):2215-2226.e7. Epub 2018 Dec 19.

VIB Center for Brain & Disease Research, Leuven, Belgium; KU Leuven-University of Leuven, Department of Microbiology and Immunology, Leuven, Belgium. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183277
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http://dx.doi.org/10.1016/j.jaci.2018.10.068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7117880PMC
June 2019

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.

Proc Natl Acad Sci U S A 2016 06 31;113(24):6713-8. Epub 2016 May 31.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France; Imagine Institute, Paris Descartes University, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065;

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http://dx.doi.org/10.1073/pnas.1606460113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914194PMC
June 2016

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood 2016 06 25;127(25):3154-64. Epub 2016 Apr 25.

Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Infectious and Tropical Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1182/blood-2015-11-679902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920021PMC
June 2016

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

J Exp Med 2015 Sep 24;212(10):1641-62. Epub 2015 Aug 24.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France

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http://dx.doi.org/10.1084/jem.20140280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846PMC
September 2015

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.

Front Immunol 2014 22;5:162. Epub 2014 Apr 22.

Murdoch Childrens Research Institute , Melbourne, VIC , Australia ; Department of Paediatrics, University of Melbourne , Melbourne, VIC , Australia ; Department of Allergy and Immunology, Royal Children's Hospital , Melbourne, VIC , Australia.

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http://dx.doi.org/10.3389/fimmu.2014.00162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001072PMC
May 2014

Primary immunodeficiencies of protective immunity to primary infections.

Clin Immunol 2010 May 16;135(2):204-9. Epub 2010 Mar 16.

Clinical Immunology Unit, Department of Pediatrics, CHU Ibn Rochd, Casablanca, Morocco.

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http://dx.doi.org/10.1016/j.clim.2010.02.001DOI Listing
May 2010