Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia

Bibliographische Detailangaben
Veröffentlicht in:	Clinical immunology (Orlando, Fla.). - 1999. - 146(2013), 2 vom: 15. Feb., Seite 84-9
1. Verfasser:	Recher, Mike (VerfasserIn)
Weitere Verfasser:	Fried, Ari J, Massaad, Michel J, Kim, Hye Young, Rizzini, Michela, Frugoni, Francesco, Walter, Jolan E, Mathew, Divij, Eibel, Hermann, Hess, Christoph, Giliani, Silvia, Umetsu, Dale T, Notarangelo, Luigi D, Geha, Raif S
Format:	Online-Aufsatz
Sprache:	English
Veröffentlicht:	2013
Zugriff auf das übergeordnete Werk:	Clinical immunology (Orlando, Fla.)
Schlagworte:	Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Immunoglobulins, Intravenous Intracellular Signaling Peptides and Proteins SH2D1A protein, human Signaling Lymphocytic Activation Molecule Associated Protein

Beschreibung
Zusammenfassung:	Copyright © 2012 Elsevier Inc. All rights reserved. X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency syndrome associated with the inability to control Epstein-Barr virus (EBV), lymphoma, and hypogammaglobulinemia. XLP is caused by mutations in the SH2D1A gene, which encodes the SLAM-associated protein (SAP), or in the BIRC4 gene, which encodes the X-linked inhibitor of apoptosis protein (XIAP). Here we report a patient with recurrent respiratory tract infections and early onset agammaglobulinemia who carried a unique disease-causing intronic loss-of-function mutation in SH2D1A. The intronic mutation affected SH2D1A gene transcription but not mRNA splicing, and led to markedly reduced level of SAP protein. Despite undetectable serum immunoglobulins, the patient's B cells replicated and differentiated into antibody producing cells normally in vitro
Beschreibung:	Date Completed 01.04.2013 Date Revised 21.10.2021 published: Print-Electronic Citation Status MEDLINE
ISSN:	1521-7035
DOI:	10.1016/j.clim.2012.11.007