Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation implications for pathogenesis and potential detection by newborn screening

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation : implications for pathogenesis and potential detection by newborn screening

Copyright © 2011 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 141(2011), 2 vom: 15. Nov., Seite 128-32
1. Verfasser: Dasouki, Majed (VerfasserIn)
Weitere Verfasser: Okonkwo, Kingsley C, Ray, Abhishek, Folmsbeel, Caspian K, Gozales, Diana, Keles, Sevgi, Puck, Jennifer M, Chatila, Talal
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2011
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article DNA, Circular DOCK8 protein, human Guanine Nucleotide Exchange Factors
Beschreibung
Zusammenfassung:Copyright © 2011 Elsevier Inc. All rights reserved.
Loss of function of DOCK8 is the major cause of autosomal recessive hyper IgE syndrome, a primary immunodeficiency with adaptive and innate immune dysfunction. Patients affected with ARHIES have atopic dermatitis and recurrent, potentially life-threatening viral and bacterial infections. Three consanguineous Pakistani siblings presented with severe atopic dermatitis and superinfection. Direct sequencing of DOCK8 in all three affected siblings demonstrated homozygosity for a deleterious, novel exon 14 frame shift mutation. Current newborn screening for severe combined immunodeficiency syndrome (SCID) and related T cell disorders relies on the quantitation of T Cell Receptor Excision Cells (TRECs) in dried blood spots (DBS). Significantly, both older affected siblings had undetectable TRECs, and TREC copy number was reduced in the youngest sibling. These findings suggest that AR-HIES may be detected by TREC newborn screening, and this diagnosis should be considered in the evaluation of newborns with abnormal TRECs who do not have typical SCID
Beschreibung:Date Completed 20.12.2011
Date Revised 20.10.2021
published: Print-Electronic
CommentIn: Clin Immunol. 2011 Nov;141(2):125-6. - PMID 21875821
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2011.06.003