About: Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

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An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency
Creator	Casas, Inmaculada Solé-Violán, Jordi Casanova, Jean-Laurent Zhang, Shen-Ying Ciancanelli, Michael Rodríguez De Castro, Felipe María, & Andújar-Sánchez, Miguel Betancor, Eva Bilbao, Cristina Colobran, Roger De Borges De Oliveira, Edgar Fernández, Álvarez Ferrer, José Franco, Nieves Herrera-Ramos, Estefanía José, & López-Rodríguez, Marta Martínez-Gallo, Mónica Martínez-Saavedra, Teresa Mercedes, & Oleaga-Quintas, Carmen Pestano, Jose Pérez, Carmen Ruiz-Hernández, Juan Sologuren, Ithaisa
topic	covid:ef0b5e6f21368acc5d5600813cd40fc12a640bdf#this
Source	PMC
abstract	The pathogenesis of life-threatening influenza A virus (IAV) disease remains elusive, as infection is benign in most individuals. We studied two relatives who died from influenza. We Sanger sequenced GATA2 and evaluated the mutation by gene transfer, measured serum cytokine levels, and analyzed circulating T- and B-cells. Both patients (father and son, P1 and P2) died in 2011 of H1N1pdm IAV infection at the ages of 54 and 31 years, respectively. They had not suffered from severe or moderately severe infections in the last 17 (P1) and 15 years (P2). A daughter of P1 had died at 20 years from infectious complications. Low B-cell, NK- cell, and monocyte numbers and myelodysplastic syndrome led to sequence GATA2. Patients were heterozygous for a novel, hypomorphic, R396L mutation leading to haplo-insufficiency. B- and T-cell rearrangement in peripheral blood from P1 during the influenza episode showed expansion of one major clone. No T-cell receptor excision circles were detected in P1 and P3 since they were 35 and 18 years, respectively. Both patients presented an exuberant, interferon (IFN)-γ-mediated hypercytokinemia during H1N1pdm infection. No data about patients with viremia was available. Two previously reported adult GATA2-deficient patients died from severe H1N1 IAV infection; GATA2 deficiency may predispose to life-threatening influenza in adulthood. However, a role of other genetic variants involved in immune responses cannot be ruled out. Patients with GATA2 deficiency can reach young adulthood without severe infections, including influenza, despite long-lasting complete B-cell and natural killer (NK) cell deficiency, as well as profoundly diminished T-cell thymic output. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s10875-018-0512-0) contains supplementary material, which is available to authorized users.
has issue date	2018-06-07(xsd:dateTime)
bibo:doi	10.1007/s10875-018-0512-0
bibo:pmid	29882021
has license	no-cc
sha1sum (hex)	ef0b5e6f21368acc5d5600813cd40fc12a640bdf
schema:url	https://doi.org/10.1007/s10875-018-0512-0
resource representing a document's title	Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency
has PubMed Central identifier	PMC6429553
has PubMed identifier	29882021
schema:publication	J Clin Immunol
resource representing a document's body	covid:ef0b5e6f21368acc5d5600813cd40fc12a640bdf#body_text
is http://vocab.deri.ie/void#inDataset of	https://covidontheweb.inria.fr:4443/about/id/http/ns.inria.fr/covid19/ef0b5e6f21368acc5d5600813cd40fc12a640bdf
is schema:about of	named entity 'died' named entity 'B-cell' named entity 'B-cell' named entity 'GATA2' named entity 'infection' named entity 'severe' named entity 'viremia' named entity 'Sanger' named entity 'data' named entity 'interferon' named entity 'evaluated' named entity 'thymic' named entity 'IAV' named entity 'GATA2' named entity 'GATA2' named entity 'patients' named entity 'hypomorphic' named entity 'transfer' named entity 'T-cell' named entity 'CD4' named entity 'herpes simplex virus' named entity 'immunoglobulin heavy chain' named entity 'late adulthood' named entity 'PBMCs' named entity 'IL-1' named entity 'IAV' named entity 'genetic variants' named entity 'numbers' named entity 'levels' named entity 'IAV' named entity 'pathogenesis' named entity 'interferon (IFN)-γ' named entity 'B-cell' named entity 'cytokine' named entity 'natural killer (NK) cell' named entity 'IAV' named entity 'mutation' named entity 'GATA2 deficiency' named entity 'peripheral blood' named entity 'infection' named entity 'T-cell' named entity 'GATA2' named entity 'Influenza' named entity 'GATA2' named entity 'heterozygous' named entity 'PCR analysis' named entity 'pDCs' named entity 'T-cells' named entity 'gDNA' named entity 'influenza' named entity 'GATA2' named entity 'vector' named entity 'CD20' named entity 'influenza'

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