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

Thure Mors Haunstrup; Kaspar René Nielsen; Sys Hasslund; Line Lindgreen Eriksen; Jakob T Bay; John Baech; Rudi Steffensen; Lisbeth Venø Kruse

doi:10.1016/j.jacig.2024.100274

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

J Allergy Clin Immunol Glob. 2024 May 3;3(3):100274. doi: 10.1016/j.jacig.2024.100274. eCollection 2024 Aug.

Authors

Thure Mors Haunstrup^{1

2

3}, Kaspar René Nielsen^{1

2}, Sys Hasslund¹, Line Lindgreen Eriksen¹, Jakob T Bay⁴, John Baech^{1

2}, Rudi Steffensen¹, Lisbeth Venø Kruse⁵

Affiliations

¹ Department of Clinical Immunology, Aalborg University, Aalborg, Denmark.
² Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
³ Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
⁴ Department of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.
⁵ Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark.

Abstract

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.

Keywords: CD21; CR2; Immunodeficiency; allele frequency; clinical presentation; immunoglobulin replacement therapy; novel mutation.

Publication types

Case Reports