Literature DB >> 30288645

Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis.

Tamar S Rubin1, Cheryl Rockman-Greenberg2,3, Paul Van Caeseele2,4, Geoffrey D E Cuvelier2,5, Luvinia Kwan6, Marlis L Schroeder2,3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 30288645     DOI： 10.1007/s10875-018-0555-2

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


× No keyword cloud information.
  4 in total

1.  Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency.

Authors:  Serge Grazioli; Mary Bennett; Kyla J Hildebrand; Hilary Vallance; Stuart E Turvey; Anne K Junker
Journal:  Clin Immunol       Date:  2014-05-04       Impact factor: 3.969

2.  Deficiency of innate and acquired immunity caused by an IKBKB mutation.

Authors:  Ulrich Pannicke; Bernd Baumann; Sebastian Fuchs; Philipp Henneke; Anne Rensing-Ehl; Marta Rizzi; Ales Janda; Katrin Hese; Michael Schlesier; Karlheinz Holzmann; Stephan Borte; Constanze Laux; Eva-Maria Rump; Alan Rosenberg; Teresa Zelinski; Hubert Schrezenmeier; Thomas Wirth; Stephan Ehl; Marlis L Schroeder; Klaus Schwarz
Journal:  N Engl J Med       Date:  2013-12-26       Impact factor: 91.245

3.  Immunodeficiency associated with a nonsense mutation of IKBKB.

Authors:  Christian Nielsen; Marianne A Jakobsen; Martin Jakob Larsen; Amanda C Müller; Soren Hansen; Søren T Lillevang; Niels Fisker; Torben Barington
Journal:  J Clin Immunol       Date:  2014-09-14       Impact factor: 8.317

4.  Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases.

Authors:  O Jilkina; J R Thompson; L Kwan; P Van Caeseele; C Rockman-Greenberg; M L Schroeder
Journal:  Mol Genet Metab Rep       Date:  2014-08-07
  4 in total
  3 in total

Review 1.  The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity.

Authors:  Bertrand Boisson
Journal:  Hum Genet       Date:  2020-01-24       Impact factor: 4.132

2.  Null IFNAR1 and IFNAR2 alleles are surprisingly common in the Pacific and Arctic.

Authors:  Isabelle Meyts
Journal:  J Exp Med       Date:  2022-04-29       Impact factor: 17.579

3.  Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency.

Authors:  Geoffrey D E Cuvelier; Tamar S Rubin; Anne Junker; Roona Sinha; Alan M Rosenberg; Donna A Wall; Marlis L Schroeder
Journal:  Clin Immunol       Date:  2018-10-31       Impact factor: 3.969
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.