Literature DB >> 26409661

Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3.

Jens Magnus Bernth-Jensen1, Mette Holm2, Mette Christiansen3.   

Abstract

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Year:  2015        PMID： 26409661     DOI： 10.1016/j.jaci.2015.07.047

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  9 in total

1.  Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.

Authors:  Jaak Jaeken; Dirk J Lefeber; Gert Matthijs
Journal:  Eur J Hum Genet       Date:  2019-06-23       Impact factor: 4.246

Review 2.  Human hyper-IgE syndrome: singular or plural?

Authors:  Qian Zhang; Bertrand Boisson; Vivien Béziat; Anne Puel; Jean-Laurent Casanova
Journal:  Mamm Genome       Date:  2018-08-09       Impact factor: 2.957

3.  Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

Authors:  Ryan J Carlson; Michelle R Bond; Shermaine Hutchins; Yishai Brown; Lynne A Wolfe; Christina Lam; Celeste Nelson; Thomas DiMaggio; Nina Jones; Sergio D Rosenzweig; Kelly D Stone; Alexandra F Freeman; Steven M Holland; John A Hanover; Joshua D Milner; Jonathan J Lyons
Journal:  J Allergy Clin Immunol       Date:  2017-01-04       Impact factor: 10.793

4.  Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:  Asbjørg Stray-Pedersen; Hanne Sørmo Sorte; Pubudu Samarakoon; Tomasz Gambin; Ivan K Chinn; Zeynep H Coban Akdemir; Hans Christian Erichsen; Lisa R Forbes; Shen Gu; Bo Yuan; Shalini N Jhangiani; Donna M Muzny; Olaug Kristin Rødningen; Ying Sheng; Sarah K Nicholas; Lenora M Noroski; Filiz O Seeborg; Carla M Davis; Debra L Canter; Emily M Mace; Timothy J Vece; Carl E Allen; Harshal A Abhyankar; Philip M Boone; Christine R Beck; Wojciech Wiszniewski; Børre Fevang; Pål Aukrust; Geir E Tjønnfjord; Tobias Gedde-Dahl; Henrik Hjorth-Hansen; Ingunn Dybedal; Ingvild Nordøy; Silje F Jørgensen; Tore G Abrahamsen; Torstein Øverland; Anne Grete Bechensteen; Vegard Skogen; Liv T N Osnes; Mari Ann Kulseth; Trine E Prescott; Cecilie F Rustad; Ketil R Heimdal; John W Belmont; Nicholas L Rider; Javier Chinen; Tram N Cao; Eric A Smith; Maria Soledad Caldirola; Liliana Bezrodnik; Saul Oswaldo Lugo Reyes; Francisco J Espinosa Rosales; Nina Denisse Guerrero-Cursaru; Luis Alberto Pedroza; Cecilia M Poli; Jose L Franco; Claudia M Trujillo Vargas; Juan Carlos Aldave Becerra; Nicola Wright; Thomas B Issekutz; Andrew C Issekutz; Jordan Abbott; Jason W Caldwell; Diana K Bayer; Alice Y Chan; Alessandro Aiuti; Caterina Cancrini; Eva Holmberg; Christina West; Magnus Burstedt; Ender Karaca; Gözde Yesil; Hasibe Artac; Yavuz Bayram; Mehmed Musa Atik; Mohammad K Eldomery; Mohammad S Ehlayel; Stephen Jolles; Berit Flatø; Alison A Bertuch; I Celine Hanson; Victor W Zhang; Lee-Jun Wong; Jianhong Hu; Magdalena Walkiewicz; Yaping Yang; Christine M Eng; Eric Boerwinkle; Richard A Gibbs; William T Shearer; Robert Lyle; Jordan S Orange; James R Lupski
Journal:  J Allergy Clin Immunol       Date:  2016-07-16       Impact factor: 10.793

Review 5.  Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Authors:  Cristiane de Jesus Nunes-Santos; Sergio D Rosenzweig
Journal:  Front Immunol       Date:  2018-06-22       Impact factor: 7.561

6.  Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report.

Authors:  Karin E Lundin; Qing Wang; Abdulrahman Hamasy; Per Marits; Mehmet Uzunel; Valtteri Wirta; Ann-Charlotte Wikström; Anders Fasth; Olov Ekwall; C I Edvard Smith
Journal:  BMC Pediatr       Date:  2018-08-29       Impact factor: 2.125

Review 7.  Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.

Authors:  Riccardo Castagnoli; Ottavia Maria Delmonte; Enrica Calzoni; Luigi Daniele Notarangelo
Journal:  Front Pediatr       Date:  2019-08-08       Impact factor: 3.418

Review 8.  Primary atopic disorders.

Authors:  Jonathan J Lyons; Joshua D Milner
Journal:  J Exp Med       Date:  2018-03-16       Impact factor: 14.307

9.  Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance.

Authors:  Xiao-Rong Liu; Wen-Jun Bian; Jie Wang; Ting-Ting Ye; Bing-Mei Li; De-Tian Liu; Bin Tang; Wei-Wen Deng; Yi-Wu Shi; Tao Su; Yong-Hong Yi; Wei-Ping Liao
Journal:  Front Genet       Date:  2020-10-15       Impact factor: 4.599
  9 in total

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