Low T cell receptor excision circles (TRECs) in a case of ZAP 70 deficient severe combined immunodeficiency (SCID) with a novel mutation from India

Blood Cells, Molecules, and Diseases - Tập 65 - Trang 95-96 - 2017
Jahnavi Aluri1, Khushnuma Italia1, Maya Gupta1, Aparna Dalvi1, Ashish Bavdekar2, Manisha Madkaikar1
1Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology (ICMR), 13th Floor, NMS Building, KEM Hospital, Parel, Mumbai 400012, India
2KEM hospital, 489, Rasta Peth, Sardar Moodilar Road, Pune 411011, India

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Rosenberg, 2009, ZAP70-related severe combined immunodeficiency

Schroeder, 2016, Genotyping an immunodeficiency causing c.1624–11G>A ZAP70 mutation in Canadian mennonites, BMC Med. Genet., 17, 50, 10.1186/s12881-016-0312-4

Wang, 2010, ZAP-70: an essential kinase in T-cell signaling, Cold Spring Harb. Perspect. Biol., 2, 10.1101/cshperspect.a002279

Picard, 2009, Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity, Eur. J. Immunol., 39, 1966, 10.1002/eji.200939385

Douek, 1998, Changes in thymic function with age and during the treatment of HIV infection, Nature, 690, 10.1038/25374

Chan, 2005, Development of population–based newborn screening for severe combined immunodeficiency, J. Allergy Clin. Immunol., 115, 391, 10.1016/j.jaci.2004.10.012

AU, 2014, Limitation of TREC-based newborn screening for ZAP70 severe combined immunodeficiency, Clin. Immunol., 153, 209, 10.1016/j.clim.2014.04.015

Roifman, 2012, Defining combined immunodeficiency, J. Allergy Clin. Immunol., 130, 177, 10.1016/j.jaci.2012.04.029