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Congenital and acquired defects of immunity: An ever-evolving story.
Castagnoli, Riccardo; Delmonte, Ottavia M; Notarangelo, Luigi D.
  • Castagnoli R; Division of Intramural Research, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
  • Delmonte OM; Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.
  • Notarangelo LD; Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.
Pediatr Allergy Immunol ; 33 Suppl 27: 61-64, 2022 01.
Article in English | MEDLINE | ID: covidwho-1840509
ABSTRACT
Inborn errors of immunity (IEI), also referred to as primary immunodeficiencies (PID), are disorders that, for the most part, result from mutations in genes involved in immune host defense and immune regulation. With the increased availability of high-throughput DNA sequencing and improved genomic data interpretation, the number of newly identified genes associated with IEI has exponentially increased over the last decade. Here, we focus on the newly described IEI associated with severe COVID-19 and SASH3 deficiency, the most recently reported IEI with impaired T-cell receptor (TCR) signaling.
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Full text: Available Collection: International databases Database: MEDLINE Main subject: Primary Immunodeficiency Diseases / COVID-19 Limits: Humans Language: English Journal: Pediatr Allergy Immunol Journal subject: Allergy and Immunology / Pediatrics Year: 2022 Document Type: Article Affiliation country: Pai.13632

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Full text: Available Collection: International databases Database: MEDLINE Main subject: Primary Immunodeficiency Diseases / COVID-19 Limits: Humans Language: English Journal: Pediatr Allergy Immunol Journal subject: Allergy and Immunology / Pediatrics Year: 2022 Document Type: Article Affiliation country: Pai.13632