Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE

Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 163(2016) vom: 15. Feb., Seite 17-21
1. Verfasser: Kienzler, Anne-Kathrin (VerfasserIn)
Weitere Verfasser: van Schouwenburg, Pauline A, Taylor, John, Marwah, Ishita, Sharma, Richa U, Noakes, Charlotte, Thomson, Kate, Sadler, Ross, Segal, Shelley, Ferry, Berne, Taylor, Jenny C, Blair, Edward, Chapel, Helen, Patel, Smita Y
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2016
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Combined immunodeficiency DOCK8 Hyper-IgE syndrome Phenotypic variability Whole exome sequencing DOCK8 protein, human Guanine Nucleotide Exchange Factors mehr... Immunoglobulin G Immunoglobulin M Immunoglobulin E 37341-29-0