CD21 deficiency in 2 siblings and frequency of the associated mutation in the Danish population

CD21 deficiency in 2 siblings and frequency of the associated mutation in the Danish population

The clinical presentation of CD21 deficiency in 2 siblings caused by a novel mutation in the CD21 gene is reported, and the frequency of this mutation in the Danish population is explored. Successful treatment with IgG replacement in both patients with CD21 deficiency is also reported.

Bibliographic Details
Main Authors: Thure Mors Haunstrup, MD, Kaspar René Nielsen, MD, PhD, Sys Hasslund, MD, PhD, Line Lindgreen Eriksen, PhD, Jakob T. Bay, MD, PhD, John Baech, MD, PhD, Rudi Steffensen, PhD, Lisbeth Venø Kruse, MD, PhD
Format: Article
Language:English
Published: Elsevier 2024-08-01
Series:Journal of Allergy and Clinical Immunology: Global
Subjects:
Immunodeficiency
CD21
clinical presentation
novel mutation
allele frequency
immunoglobulin replacement therapy
Online Access:http://www.sciencedirect.com/science/article/pii/S2772829324000705

Internet

http://www.sciencedirect.com/science/article/pii/S2772829324000705

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