A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity-Reference-Cited by-同舟云学术

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A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity

Published:2024-07 Issue: Volume:264 Page:110244
ISSN:1521-6616
Container-title:Clinical Immunology
language:en
Short-container-title:Clinical Immunology

Author:

Stojkic Ivana,Prince Benjamin T.,Kuehn Hye Sun,Gil Silva Agustin A.,Varga Elizabeth A.,Rosenzweig Sergio D.,Ramadesikan Swetha,Supinger Rachel,Marhabaie Mohammad,Chang Peter,Mardis Elaine R.,Koboldt Daniel C.

Funder

Nationwide Children's Hospital

Publisher

Elsevier BV

Reference27 articles.

1. The rapidly expanding genetic spectrum of common variable immunodeficiency–like disorders;Ameratunga;J. Allergy Clin. Immunol.: In Pract.,2023

2. Assessing disease severity in common variable immunodeficiency disorders (CVID) and CVID-like disorders;Ameratunga;Front. Immunol.,2018

3. The simultaneous presentation of sarcoidosis and common variable immune deficiency;Ameratunga;Pathology,2000

4. Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency;Kuehn;Clin. Exp. Immunol.,2023

5. Loss of B cells in patients with heterozygous mutations in IKAROS;Kuehn;N. Engl. J. Med.,2016

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