LymphedemaV1, France, Analysis, bibRecord, 000163

Inborn errors of the development of human Natural Killer cells

Identifieur interne : 000163 ( France/Analysis ); précédent : 000162; suivant : 000164

Inborn 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.

RBID : PMC:4077347

Abstract

Purpose of review

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).

Recent findings

Patients with severe combined immunodeficiencies (SCID) bearing mutations of ADA, AK2, IL2RG and JAK3 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.

Summary

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:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077347

DOI: 10.1097/ACI.0000000000000011
PubMed: 24135998
PubMed Central: 4077347

Affiliations:

Links to Exploration step

PMC:4077347

Le document en format XML

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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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<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>
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Inborn errors of the development of human Natural Killer cells

Inborn errors of the development of human Natural Killer cells

Source :

Abstract

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Links to Exploration step

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