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.

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Veröffentlicht in:The journal of allergy and clinical immunology. Global 2024-08, Vol.3 (3), p.100274, Article 100274
Hauptverfasser: Haunstrup, Thure Mors, Nielsen, Kaspar René, Hasslund, Sys, Eriksen, Line Lindgreen, Bay, Jakob T., Baech, John, Steffensen, Rudi, Kruse, Lisbeth Venø
Format: Artikel
Sprache:eng
Schlagworte:
allele frequency
Case Report
CD21
clinical presentation
CR2
Immunodeficiency
immunoglobulin replacement therapy
novel mutation
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Zusammenfassung: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.
ISSN:2772-8293
2772-8293
DOI:10.1016/j.jacig.2024.100274