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

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

^*Corresponding author for this work

Department of Clinical Medicine

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

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.

Original language	English
Article number	100274
Journal	Journal of Allergy and Clinical Immunology: Global
Volume	3
Issue	3
Number of pages	3
DOIs	https://doi.org/10.1016/j.jacig.2024.100274
Publication status	Published - Aug 2024

Keywords

allele frequency
CD21
clinical presentation
CR2
Immunodeficiency
immunoglobulin replacement therapy
novel mutation

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title = "CD21 deficiency in 2 siblings and frequency of the associated mutation in the Danish population",

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.",

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CD21 deficiency in 2 siblings and frequency of the associated mutation in the Danish population. / Haunstrup, Thure Mors; Nielsen, Kaspar René; Hasslund, Sys et al.
In: Journal of Allergy and Clinical Immunology: Global, Vol. 3, No. 3, 100274, 08.2024.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - CD21 deficiency in 2 siblings and frequency of the associated mutation in the Danish population

AU - Haunstrup, Thure Mors

AU - Nielsen, Kaspar René

AU - Hasslund, Sys

AU - Eriksen, Line Lindgreen

AU - Bay, Jakob T.

AU - Baech, John

AU - Steffensen, Rudi

AU - Kruse, Lisbeth Venø

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N2 - 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.

AB - 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.

KW - allele frequency

KW - CD21

KW - clinical presentation

KW - CR2

KW - Immunodeficiency

KW - immunoglobulin replacement therapy

KW - novel mutation

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DO - 10.1016/j.jacig.2024.100274

M3 - Journal article

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AN - SCOPUS:85193577936

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

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Keywords

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