L. Notarangelo

Publications775
h-index103
Citations43,936
Highly Influential Citations1,580
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19
TLDR
A means by which individuals at highest risk of life-threatening COVID-19 can be identified is identified, and the hypothesis that neutralizing auto-Abs against type I IFNs may underlie critical CO VID-19 is tested.
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The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
TLDR
It is shown that a T-cell-specific, SLAM-associated protein (SAP), which contains an SH2 domain and a short tail, acts as an inhibitor by blocking recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region.
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Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)
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Clinical spectrum of X-linked hyper-IgM syndrome.
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
TLDR
The COVID Human Genetic Effort established to test the general hypothesis that life-threatening COVID-19 in some or most patients may be caused by monogenic inborn errors of immunity to SARS-CoV-2 with incomplete or complete penetrance finds an enrichment in variants predicted to be loss-of-function (pLOF), with a minor allele frequency <0.001.
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Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
TLDR
Gene therapy, combined with reduced-intensity conditioning, is a safe and effective treatment for SCID in patients with ADA deficiency and effective protection against infections and improvement in physical development made a normal lifestyle possible.
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Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
TLDR
This updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological Societies, is meant to help in the diagnostic approach to patients with these diseases.
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Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies).
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Primary immunodeficiencies.
  • L. Notarangelo
  • Medicine, Biology
    The Journal of allergy and clinical immunology
  • 2010
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Immunodeficiency with hyper-IgM (HIM).
TLDR
Treatment is mainly based upon regular administration of intravenous immunoglobulins, and Steroids may be useful in the treatment of neutropaenia and of severe autoimmune manifestations.
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