Emmanuelle Jouanguy1, Laure Gineau, Julien Cottineau, Vivien Béziat, Eric Vivier, Jean-Laurent Casanova. 1. aLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980, Necker Hospital for Sick Children bParis Descartes University, Imagine Institute, Paris, France cSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, USA dCenter for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden eCentre d'Immunologie de Marseille-Luminy, INSERM U1104 fCNRS UMR7280 gAix Marseille Université, UM2 hService d'Immunologie, Assistance Publique - Hôpitaux de Marseille, Hôpital de la Conception, Marseille iPediatric Hematology-Immunology Unit, Necker Hospital, Paris, France.
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 these NK deficiencies (NKDs). RECENT FINDINGS: Patients with severe combined immunodeficiencies bearing mutations of adenosine deaminase, adenylate kinase 2, interleukin-2 receptor gamma chain, and Janus kinase 3 genes present NKDs and are prone to a broad range of infections. Patients with GATA binding protein 2 deficiency are susceptible to both mycobacterial and viral infections, and display NKDs and a lack of monocytes. Rare patients with mini chromosomal maintenance 4 deficiency display an apparently selective NKD associated with viral infections, but they also display various nonhematopoietic phenotypes, including adrenal insufficiency and growth retardation. SUMMARY: These studies have initiated a genetic dissection of the development of human NK cells. Further studies are warranted, including the search for genetic causes 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.
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 these NK deficiencies (NKDs). RECENT FINDINGS:Patients with severe combined immunodeficiencies bearing mutations of adenosine deaminase, adenylate kinase 2, interleukin-2 receptor gamma chain, and Janus kinase 3 genes present NKDs and are prone to a broad range of infections. Patients with GATA binding protein 2 deficiency are susceptible to both mycobacterial and viral infections, and display NKDs and a lack of monocytes. Rare patients with mini chromosomal maintenance 4 deficiency display an apparently selective NKD associated with viral infections, but they also display various nonhematopoietic phenotypes, including adrenal insufficiency and growth retardation. SUMMARY: These studies have initiated a genetic dissection of the development of human NK cells. Further studies are warranted, including the search for genetic causes 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.
Authors: M G Brown; A O Dokun; J W Heusel; H R Smith; D L Beckman; E A Blattenberger; C E Dubbelde; L R Stone; A A Scalzo; W M Yokoyama Journal: Science Date: 2001-05-04 Impact factor: 47.728
Authors: Eric M Kofoed; Vivian Hwa; Brian Little; Katie A Woods; Caroline K Buckway; Junko Tsubaki; Katherine L Pratt; Liliana Bezrodnik; Hector Jasper; Alejandro Tepper; Juan J Heinrich; Ron G Rosenfeld Journal: N Engl J Med Date: 2003-09-18 Impact factor: 91.245
Authors: Fariba Behbod; Zsuzsanna S Nagy; Stanislaw M Stepkowski; James Karras; Charlene R Johnson; W David Jarvis; Robert A Kirken Journal: J Immunol Date: 2003-10-15 Impact factor: 5.422
Authors: Julien Cottineau; Molly C Kottemann; Francis P Lach; Young-Hoon Kang; Frédéric Vély; Elissa K Deenick; Tomi Lazarov; Laure Gineau; Yi Wang; Andrea Farina; Marie Chansel; Lazaro Lorenzo; Christelle Piperoglou; Cindy S Ma; Patrick Nitschke; Aziz Belkadi; Yuval Itan; Bertrand Boisson; Fabienne Jabot-Hanin; Capucine Picard; Jacinta Bustamante; Céline Eidenschenk; Soraya Boucherit; Nathalie Aladjidi; Didier Lacombe; Pascal Barat; Waseem Qasim; Jane A Hurst; Andrew J Pollard; Holm H Uhlig; Claire Fieschi; Jean Michon; Vladimir P Bermudez; Laurent Abel; Jean-Pierre de Villartay; Frédéric Geissmann; Stuart G Tangye; Jerard Hurwitz; Eric Vivier; Jean-Laurent Casanova; Agata Smogorzewska; Emmanuelle Jouanguy Journal: J Clin Invest Date: 2017-04-17 Impact factor: 19.456
Authors: Mikael Ebbo; Laurence Gérard; Sabrina Carpentier; Frédéric Vély; Sophie Cypowyj; Catherine Farnarier; Nicolas Vince; Marion Malphettes; Claire Fieschi; Eric Oksenhendler; Nicolas Schleinitz; Eric Vivier Journal: EBioMedicine Date: 2016-03-02 Impact factor: 8.143
Authors: Bo Chang; Bernard FitzMaurice; Jieping Wang; Benjamin E Low; Michael V Wiles; Patsy M Nishina Journal: Invest Ophthalmol Vis Sci Date: 2018-10-01 Impact factor: 4.799