Literature DB >> 25536483

Clinical genetics in 2014: New monogenic diseases span the immunological disease continuum.

Sinisa Savic1, Michael F McDermott1.   

Abstract

Three monogenic diseases, with features of both autoinflammation and autoimmunity, were described for the first time in 2014. As well as providing insights into the molecular basis of several rare immunological disorders, the discoveries have implications for their diagnosis and treatment.

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Year:  2014        PMID： 25536483     DOI： 10.1038/nrrheum.2014.215

Source DB:  PubMed          Journal:  Nat Rev Rheumatol        ISSN： 1759-4790            Impact factor:   20.543


  10 in total

1.  TRAIL+ NK cells control CD4+ T cell responses during chronic viral infection to limit autoimmunity.

Authors:  Iona S Schuster; Matthew E Wikstrom; Geraldine Brizard; Jerome D Coudert; Marie J Estcourt; Mitali Manzur; Lorraine A O'Reilly; Mark J Smyth; Joseph A Trapani; Geoffrey R Hill; Christopher E Andoniou; Mariapia A Degli-Esposti
Journal:  Immunity       Date:  2014-10-16       Impact factor: 31.745

Review 2.  Type I interferonopathies: mendelian type I interferon up-regulation.

Authors:  Yanick J Crow
Journal:  Curr Opin Immunol       Date:  2014-10-30       Impact factor: 7.486

3.  Mutant ADA2 in vasculopathies.

Authors:  Daniel L Kastner; Qing Zhou; Ivona Aksentijevich
Journal:  N Engl J Med       Date:  2014-07-31       Impact factor: 91.245

4.  Early-onset stroke and vasculopathy associated with mutations in ADA2.

Authors:  Qing Zhou; Dan Yang; Amanda K Ombrello; Andrey V Zavialov; Camilo Toro; Anton V Zavialov; Deborah L Stone; Jae Jin Chae; Sergio D Rosenzweig; Kevin Bishop; Karyl S Barron; Hye Sun Kuehn; Patrycja Hoffmann; Alejandra Negro; Wanxia L Tsai; Edward W Cowen; Wuhong Pei; Joshua D Milner; Christopher Silvin; Theo Heller; David T Chin; Nicholas J Patronas; John S Barber; Chyi-Chia R Lee; Geryl M Wood; Alexander Ling; Susan J Kelly; David E Kleiner; James C Mullikin; Nancy J Ganson; Heidi H Kong; Sophie Hambleton; Fabio Candotti; Martha M Quezado; Katherine R Calvo; Hawwa Alao; Beverly K Barham; Anne Jones; James F Meschia; Bradford B Worrall; Scott E Kasner; Stephen S Rich; Raphaela Goldbach-Mansky; Mario Abinun; Elizabeth Chalom; Alisa C Gotte; Marilynn Punaro; Virginia Pascual; James W Verbsky; Troy R Torgerson; Nora G Singer; Timothy R Gershon; Seza Ozen; Omer Karadag; Thomas A Fleisher; Elaine F Remmers; Shawn M Burgess; Susan L Moir; Massimo Gadina; Raman Sood; Michael S Hershfield; Manfred Boehm; Daniel L Kastner; Ivona Aksentijevich
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

5.  Immunology. Autoimmunity by haploinsufficiency.

Authors:  Frédéric Rieux-Laucat; Jean-Laurent Casanova
Journal:  Science       Date:  2014-09-26       Impact factor: 47.728

Review 6.  CTLA-4 and autoimmunity: new insights into the dual regulator of tolerance.

Authors:  Jorge Romo-Tena; Diana Gómez-Martín; Jorge Alcocer-Varela
Journal:  Autoimmun Rev       Date:  2013-07-11       Impact factor: 9.754

7.  Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.

Authors:  Hye Sun Kuehn; Weiming Ouyang; Bernice Lo; Elissa K Deenick; Julie E Niemela; Danielle T Avery; Jean-Nicolas Schickel; Dat Q Tran; Jennifer Stoddard; Yu Zhang; David M Frucht; Bogdan Dumitriu; Phillip Scheinberg; Les R Folio; Cathleen A Frein; Susan Price; Christopher Koh; Theo Heller; Christine M Seroogy; Anna Huttenlocher; V Koneti Rao; Helen C Su; David Kleiner; Luigi D Notarangelo; Yajesh Rampertaap; Kenneth N Olivier; Joshua McElwee; Jason Hughes; Stefania Pittaluga; Joao B Oliveira; Eric Meffre; Thomas A Fleisher; Steven M Holland; Michael J Lenardo; Stuart G Tangye; Gulbu Uzel
Journal:  Science       Date:  2014-09-11       Impact factor: 47.728

8.  A proposed classification of the immunological diseases.

Authors:  Dennis McGonagle; Michael F McDermott
Journal:  PLoS Med       Date:  2006-08       Impact factor: 11.069

9.  Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Authors:  Gillian I Rice; Yoandris Del Toro Duany; Emma M Jenkinson; Gabriella Ma Forte; Beverley H Anderson; Giada Ariaudo; Brigitte Bader-Meunier; Eileen M Baildam; Roberta Battini; Michael W Beresford; Manuela Casarano; Mondher Chouchane; Rolando Cimaz; Abigail E Collins; Nuno Jv Cordeiro; Russell C Dale; Joyce E Davidson; Liesbeth De Waele; Isabelle Desguerre; Laurence Faivre; Elisa Fazzi; Bertrand Isidor; Lieven Lagae; Andrew R Latchman; Pierre Lebon; Chumei Li; John H Livingston; Charles M Lourenço; Maria Margherita Mancardi; Alice Masurel-Paulet; Iain B McInnes; Manoj P Menezes; Cyril Mignot; James O'Sullivan; Simona Orcesi; Paolo P Picco; Enrica Riva; Robert A Robinson; Diana Rodriguez; Elisabetta Salvatici; Christiaan Scott; Marta Szybowska; John L Tolmie; Adeline Vanderver; Catherine Vanhulle; Jose Pedro Vieira; Kate Webb; Robyn N Whitney; Simon G Williams; Lynne A Wolfe; Sameer M Zuberi; Sun Hur; Yanick J Crow
Journal:  Nat Genet       Date:  2014-03-30       Impact factor: 38.330

Review 10.  Treg and CTLA-4: two intertwining pathways to immune tolerance.

Authors:  Lucy S K Walker
Journal:  J Autoimmun       Date:  2013-07-10       Impact factor: 7.094
  10 in total
  5 in total

Review 1.  Moving towards a systems-based classification of innate immune-mediated diseases.

Authors:  Sinisa Savic; Emily A Caseley; Michael F McDermott
Journal:  Nat Rev Rheumatol       Date:  2020-02-27       Impact factor: 20.543

2.  A Chinese DADA2 patient: report of two novel mutations and successful HSCT.

Authors:  Luyao Liu; Wenjie Wang; Ying Wang; Jia Hou; Wenjing Ying; Xiaoying Hui; Qinhua Zhou; Danru Liu; Haili Yao; Jinqiao Sun; Xiaochuan Wang
Journal:  Immunogenetics       Date:  2019-01-05       Impact factor: 2.846

3.  Anakinra as a diagnostic challenge and treatment option for systemic autoinflammatory disorders of undefined etiology.

Authors:  Stephanie R Harrison; Dennis McGonagle; Sharmin Nizam; Stephen Jarrett; Jeroen van der Hilst; Michael F McDermott; Sinisa Savic
Journal:  JCI Insight       Date:  2016-05-05

Review 4.  Recombinant pharmaceuticals from microbial cells: a 2015 update.

Authors:  Laura Sanchez-Garcia; Lucas Martín; Ramon Mangues; Neus Ferrer-Miralles; Esther Vázquez; Antonio Villaverde
Journal:  Microb Cell Fact       Date:  2016-02-09       Impact factor: 5.328

Review 5.  Monogenic polyarteritis: the lesson of ADA2 deficiency.

Authors:  Roberta Caorsi; Federica Penco; Francesca Schena; Marco Gattorno
Journal:  Pediatr Rheumatol Online J       Date:  2016-09-08       Impact factor: 3.054
  5 in total

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