Jordan S Orange1. 1. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. orange@mail.med.upenn.edu
Abstract
PURPOSE OF REVIEW: Human natural killer cell deficiencies are a relevant clinical entity that provides insight into the role of natural killer cells in host defense, as well as the basic biology of natural killer cells. Since previously reviewing these disorders, significant developments warrant their reconsideration. RECENT FINDINGS: Human natural killer cell deficiencies can occur as part of a more pervasive immunodeficiency syndrome or, rarely, in isolation. The most informative examples of the former are in the context of a known genetic defect, because the deficiency of natural killer cell development or activity can be attributed to the specific gene function. Since last reviewed, there are five human gene mutations that are now appreciated to affect natural killer cells, and additional new insights into natural killer cell biology have been obtained through seven others. Six new reports of isolated natural killer cell deficiencies, as well as a suggested classification scheme, are also reviewed. SUMMARY: Appreciation of human genetic syndromes that include natural killer cell deficiencies, as well as new cases of isolated natural killer cell deficiencies, continue to advance the understanding of natural killer cell biology and solidify the role of natural killer cells in defense against human herpesviral infection.
PURPOSE OF REVIEW: Human natural killer cell deficiencies are a relevant clinical entity that provides insight into the role of natural killer cells in host defense, as well as the basic biology of natural killer cells. Since previously reviewing these disorders, significant developments warrant their reconsideration. RECENT FINDINGS:Human natural killer cell deficiencies can occur as part of a more pervasive immunodeficiency syndrome or, rarely, in isolation. The most informative examples of the former are in the context of a known genetic defect, because the deficiency of natural killer cell development or activity can be attributed to the specific gene function. Since last reviewed, there are five human gene mutations that are now appreciated to affect natural killer cells, and additional new insights into natural killer cell biology have been obtained through seven others. Six new reports of isolated natural killer cell deficiencies, as well as a suggested classification scheme, are also reviewed. SUMMARY: Appreciation of human genetic syndromes that include natural killer cell deficiencies, as well as new cases of isolated natural killer cell deficiencies, continue to advance the understanding of natural killer cell biology and solidify the role of natural killer cells in defense against humanherpesviral infection.
Authors: Simon Bélanger; Megan M Tu; Mir Munir Ahmed Rahim; Ahmad B Mahmoud; Rajen Patel; Lee-Hwa Tai; Angela D Troke; Brian T Wilhelm; Josette-Renée Landry; Qinzhang Zhu; Kenneth S Tung; David H Raulet; Andrew P Makrigiannis Journal: Blood Date: 2012-06-01 Impact factor: 22.113
Authors: Philipp A Lang; Karl S Lang; Haifeng C Xu; Melanie Grusdat; Ian A Parish; Mike Recher; Alisha R Elford; Salim Dhanji; Namir Shaabani; Charles W Tran; Dilan Dissanayake; Ramtin Rahbar; Magar Ghazarian; Anne Brüstle; Jason Fine; Peter Chen; Casey T Weaver; Christoph Klose; Andreas Diefenbach; Dieter Häussinger; James R Carlyle; Susan M Kaech; Tak W Mak; Pamela S Ohashi Journal: Proc Natl Acad Sci U S A Date: 2011-12-13 Impact factor: 11.205
Authors: Melissa C Mizesko; Pinaki P Banerjee; Linda Monaco-Shawver; Emily M Mace; William E Bernal; Julie Sawalle-Belohradsky; Bernd H Belohradsky; Valerie Heinz; Alexandra F Freeman; Kathleen E Sullivan; Steven M Holland; Troy R Torgerson; Waleed Al-Herz; Janet Chou; Imelda C Hanson; Michael H Albert; Raif S Geha; Ellen D Renner; Jordan S Orange Journal: J Allergy Clin Immunol Date: 2013-02-04 Impact factor: 10.793