CD21 and CD19 deficiency Two defects in the same complex leading to different disease modalities

CD21 and CD19 deficiency : Two defects in the same complex leading to different disease modalities

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

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 161(2015), 2 vom: 05. Dez., Seite 120-7
1. Verfasser: Wentink, Marjolein W J (VerfasserIn)
Weitere Verfasser: Lambeck, Annechien J A, van Zelm, Menno C, Simons, Erik, van Dongen, Jacques J M, IJspeert, Hanna, Schölvinck, Elisabeth H, van der Burg, Mirjam
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2015
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't CD19 CD21 CD81 Hypogammaglobulinemia Primary antibody deficiency Antigens, CD19 Receptors, Complement 3d
Beschreibung
Zusammenfassung:Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.
PURPOSE: Deficiencies in CD19 and CD81 (forming the CD19-complex with CD21 and CD225) cause a severe clinical phenotype. One CD21 deficient patient has been described. We present a second CD21 deficient patient, with a mild clinical phenotype and compared the immunobiological characteristics of CD21 and CD19 deficiency
METHODS: CD21 deficiency was characterized by flowcytometric immunophenotyping and sequencing. Real-time PCR, in vitro stimulation and next generation sequencing were used to characterize B-cell responses and affinity maturation in CD21(-/-) and CD19(-/-) B cells
RESULTS: A compound heterozygous mutation in CD21 caused CD21 deficiency. CD21(-/-) B cells responded normally to in vitro stimulation and AID was transcribed. Affinity maturation was less affected by CD21 than by CD19 deficiency
CONCLUSIONS: Both CD21 and CD19 deficiencies cause hypogammaglobulinemia and reduced memory B cells. CD19 deficiency causes a more severe clinical phenotype. B-cell characteristics reflect this, both after in vitro stimulation as in affinity maturation
Beschreibung:Date Completed 29.02.2016
Date Revised 23.11.2015
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2015.08.010