Literature DB >> 24797280

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

Serge Grazioli1, Mary Bennett1, Kyla J Hildebrand2, Hilary Vallance3, Stuart E Turvey2, Anne K Junker4.   

Abstract

Entities:  

Keywords:  Newborn; SCID; TREC; ZAP70

Mesh：

Substances：

Year:  2014        PMID： 24797280     DOI： 10.1016/j.clim.2014.04.015

Source DB:  PubMed          Journal:  Clin Immunol        ISSN： 1521-6616            Impact factor:   3.969


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  15 in total

1.  An infant with ZAP-70 deficiency with disseminated mycobacterial disease.

Authors:  Saliha Esenboga; Deniz Cagdas Ayvaz; Pinar Gur Cetinkaya; Mirjam van der Burg; İlhan Tezcan
Journal:  J Clin Immunol       Date:  2015-12-28       Impact factor: 8.317

Review 2.  History and current status of newborn screening for severe combined immunodeficiency.

Authors:  Antonia Kwan; Jennifer M Puck
Journal:  Semin Perinatol       Date:  2015-04-30       Impact factor: 3.300

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

Authors:  Tamar S Rubin; Cheryl Rockman-Greenberg; Paul Van Caeseele; Geoffrey D E Cuvelier; Luvinia Kwan; Marlis L Schroeder
Journal:  J Clin Immunol       Date:  2018-10-04       Impact factor: 8.317

Review 4.  Primary immunodeficiency for the primary care provider.

Authors:  A W O'Keefe; M Halbrich; M Ben-Shoshan; C McCusker
Journal:  Paediatr Child Health       Date:  2016-03       Impact factor: 2.253

5.  TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.

Authors:  M Dasouki; A Jabr; G AlDakheel; F Elbadaoui; A M Alazami; B Al-Saud; R Arnaout; H Aldhekri; I Alotaibi; H Al-Mousa; A Hawwari
Journal:  Clin Exp Immunol       Date:  2020-07-21       Impact factor: 4.330

6.  Novel Compound Heterozygous Mutations in ZAP70 Leading to a SCID Phenotype with Normal Downstream In vitro Signaling.

Authors:  Kelsey Kaman; Monique Abrams; Kerry Dobbs; Luigi D Notarangelo; Ottavia M Delmonte; Boaz Palterer; Sung-Yun Pai; Alicia Johnston
Journal:  J Clin Immunol       Date:  2020-11-13       Impact factor: 8.317

7.  Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.

Authors:  Jaime E Hale; Craig D Platt; Francisco A Bonilla; Beverly N Hay; John L Sullivan; Alicia M Johnston; Mark S Pasternack; Paul E Hesterberg; H Cody Meissner; Ellen R Cooper; Sara Barmettler; Jocelyn R Farmer; Donna Fisher; Jolan E Walter; Nancy J Yang; Inderneel Sahai; Roger B Eaton; Alfred DeMaria; Luigi D Notarangelo; Sung-Yun Pai; Anne Marie Comeau
Journal:  J Allergy Clin Immunol Pract       Date:  2021-02-16

Review 8.  Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India.

Authors:  Manisha Madkaikar; Jahnavi Aluri; Sudhir Gupta
Journal:  Indian J Pediatr       Date:  2016-02-27       Impact factor: 5.319

9.  Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.

Authors:  Geoffrey D E Cuvelier; Tamar S Rubin; Donna A Wall; Marlis L Schroeder
Journal:  J Clin Immunol       Date:  2016-07-20       Impact factor: 8.542

10.  A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.

Authors:  Alice Y Chan; Divya Punwani; Theresa A Kadlecek; Morton J Cowan; Jean L Olson; Erin F Mathes; Uma Sunderam; Shu Man Fu; Rajgopal Srinivasan; John Kuriyan; Steven E Brenner; Arthur Weiss; Jennifer M Puck
Journal:  J Exp Med       Date:  2016-01-18       Impact factor: 14.307
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