Inborn errors of the development of human Natural Killer cells
Identifieur interne : 003564 ( Main/Curation ); précédent : 003563; suivant : 003565Inborn errors of the development of human Natural Killer cells
Auteurs : Emmanuelle Jouanguy [États-Unis] ; Laure Gineau ; Julien Cottineau ; Vivien Beziat [Suède] ; Eric Vivier [France] ; Jean-Laurent Casanova [États-Unis]Source :
- Current opinion in allergy and clinical immunology [ 1528-4050 ] ; 2013.
Abstract
Inborn errors of human natural killer (NK) cells may affect the development of these cells, their function, or both. There are two broad categories of genetic defects of NK-cell development, depending on whether the deficiency is apparently specific to NK cells or clearly affects multiple hematopoietic lineages. We review here recent progress in the genetic dissection of NK deficiencies (NKDs).
Patients with severe combined immunodeficiencies (SCID) bearing mutations of
These studies have initiated genetic dissection of the development of human NK cells. Further studies are warranted, including the search for genetic etiologies of NKD in particular. This research may lead to the discovery of molecules specifically controlling the development of NK cells and to improvements in our understanding of the hitherto elusive function of these cells in humans.
Url:
DOI: 10.1097/ACI.0000000000000011
PubMed: 24135998
PubMed Central: 4077347
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Emmanuelle Jouanguy<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980, Necker Hospital for Sick Children, Paris, France, EU</nlm:aff>
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</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France, EU</nlm:aff>
<wicri:noCountry code="subfield">EU</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA</nlm:aff>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Inborn errors of the development of human Natural Killer cells</title>
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<author><name sortKey="Cottineau, Julien" sort="Cottineau, Julien" uniqKey="Cottineau J" first="Julien" last="Cottineau">Julien Cottineau</name>
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<author><name sortKey="Beziat, Vivien" sort="Beziat, Vivien" uniqKey="Beziat V" first="Vivien" last="Beziat">Vivien Beziat</name>
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<author><name sortKey="Vivier, Eric" sort="Vivier, Eric" uniqKey="Vivier E" first="Eric" last="Vivier">Eric Vivier</name>
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<author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
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<wicri:noCountry code="subfield">EU</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France, EU</nlm:aff>
<wicri:noCountry code="subfield">EU</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A3">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY</wicri:regionArea>
<wicri:noRegion>NY</wicri:noRegion>
</affiliation>
<affiliation><nlm:aff id="A9">Pediatric Hematology-Immunology Unit, Necker Hospital, AP-HP, 75015 Paris, France, EU</nlm:aff>
<wicri:noCountry code="subfield">EU</wicri:noCountry>
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<series><title level="j">Current opinion in allergy and clinical immunology</title>
<idno type="ISSN">1528-4050</idno>
<idno type="eISSN">1473-6322</idno>
<imprint><date when="2013">2013</date>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Purpose of review</title>
<p id="P1">Inborn errors of human natural killer (NK) cells may affect the development of these cells, their function, or both. There are two broad categories of genetic defects of NK-cell development, depending on whether the deficiency is apparently specific to NK cells or clearly affects multiple hematopoietic lineages. We review here recent progress in the genetic dissection of NK deficiencies (NKDs).</p>
</sec>
<sec id="S2"><title>Recent findings</title>
<p id="P2">Patients with severe combined immunodeficiencies (SCID) bearing mutations of <italic>ADA</italic>
, <italic>AK2</italic>
, <italic>IL2RG</italic>
and <italic>JAK3</italic>
genes present NKDs and are prone to a broad range of infections. Patients with GATA2 deficiency are susceptible to both mycobacterial and viral infections and display NKD and a lack of monocytes. Patients with MCM4 deficiency display an apparently selective NKD associated with viral infections, but they also display various non hematopoietic phenotypes, including adrenal insufficiency and growth retardation.</p>
</sec>
<sec id="S3"><title>Summary</title>
<p id="P3">These studies have initiated genetic dissection of the development of human NK cells. Further studies are warranted, including the search for genetic etiologies of NKD in particular. This research may lead to the discovery of molecules specifically controlling the development of NK cells and to improvements in our understanding of the hitherto elusive function of these cells in humans.</p>
</sec>
</div>
</front>
</TEI>
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