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

Autor:	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
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	Immunodeficiency CD21 clinical presentation novel mutation allele frequency immunoglobulin replacement therapy Immunologic diseases. Allergy RC581-607
Zdroj:	Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100274- (2024)
Druh dokumentu:	article
ISSN:	2772-8293
DOI:	10.1016/j.jacig.2024.100274
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/674f8b59263045dbb165459ac2bf503a Zobrazit plný text záznamu View record in DOAJ