|
|
|
|
| LEADER |
01000caa a22002652 4500 |
| 001 |
NLM372225799 |
| 003 |
DE-627 |
| 005 |
20240628232259.0 |
| 007 |
cr uuu---uuuuu |
| 008 |
240512s2024 xx |||||o 00| ||eng c |
| 024 |
7 |
|
|a 10.1016/j.clim.2024.110244
|2 doi
|
| 028 |
5 |
2 |
|a pubmed24n1454.xml
|
| 035 |
|
|
|a (DE-627)NLM372225799
|
| 035 |
|
|
|a (NLM)38734037
|
| 035 |
|
|
|a (PII)S1521-6616(24)00353-X
|
| 040 |
|
|
|a DE-627
|b ger
|c DE-627
|e rakwb
|
| 041 |
|
|
|a eng
|
| 100 |
1 |
|
|a Stojkic, Ivana
|e verfasserin
|4 aut
|
| 245 |
1 |
2 |
|a A novel IKZF1 variant in a family with autosomal dominant CVID
|b A case for expanding exon coverage in inborn errors of immunity
|
| 264 |
|
1 |
|c 2024
|
| 336 |
|
|
|a Text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a ƒaComputermedien
|b c
|2 rdamedia
|
| 338 |
|
|
|a ƒa Online-Ressource
|b cr
|2 rdacarrier
|
| 500 |
|
|
|a Date Completed 14.06.2024
|
| 500 |
|
|
|a Date Revised 28.06.2024
|
| 500 |
|
|
|a published: Print-Electronic
|
| 500 |
|
|
|a Citation Status MEDLINE
|
| 520 |
|
|
|a Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.
|
| 520 |
|
|
|a Common variable immune deficiency (CVID) is a heterogenous group of disorders characterized by varying degrees of hypogammaglobulinemia, recurrent infections, and autoimmunity. Currently, pathogenic variants are identified in approximately 20-30% of CVID cases. Here we report a 3-generation family with autosomal dominant Common Variable Immunodeficiency (CVID) diagnosed in 9 affected individuals. Although primary immune deficiency panels and exome sequencing were non-diagnostic, whole genome sequencing revealed a novel, pathogenic c.499C > T: p.His167Tyr variant in IKZF1, a critical regulator of B cell development. Functional testing done through pericentromeric heterochromatin localization and light shift chemiluminescent electrophoretic mobility shift assay confirmed the variant's deleterious effect via a haploinsufficiency mechanism. Our findings expand the spectrum of known IKZF1 mutations and contribute to a more comprehensive understanding of CVID's genetic heterogeneity. Furthermore, this case underscores the importance of considering whole genome sequencing for comprehensive genetic diagnosis when concern for a monogenic inborn errors of immunity is high
|
| 650 |
|
4 |
|a Journal Article
|
| 650 |
|
4 |
|a Case Reports
|
| 650 |
|
4 |
|a CVID
|
| 650 |
|
4 |
|a IKZF1
|
| 650 |
|
7 |
|a Ikaros Transcription Factor
|2 NLM
|
| 650 |
|
7 |
|a 148971-36-2
|2 NLM
|
| 650 |
|
7 |
|a IKZF1 protein, human
|2 NLM
|
| 700 |
1 |
|
|a Prince, Benjamin T
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Kuehn, Hye Sun
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Gil Silva, Agustin A
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Varga, Elizabeth A
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Rosenzweig, Sergio D
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Ramadesikan, Swetha
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Supinger, Rachel
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Marhabaie, Mohammad
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Chang, Peter
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Mardis, Elaine R
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Koboldt, Daniel C
|e verfasserin
|4 aut
|
| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 264(2024) vom: 11. Juni, Seite 110244
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
|
| 773 |
1 |
8 |
|g volume:264
|g year:2024
|g day:11
|g month:06
|g pages:110244
|
| 856 |
4 |
0 |
|u http://dx.doi.org/10.1016/j.clim.2024.110244
|3 Volltext
|
| 912 |
|
|
|a GBV_USEFLAG_A
|
| 912 |
|
|
|a SYSFLAG_A
|
| 912 |
|
|
|a GBV_NLM
|
| 912 |
|
|
|a GBV_ILN_11
|
| 912 |
|
|
|a GBV_ILN_24
|
| 912 |
|
|
|a GBV_ILN_350
|
| 951 |
|
|
|a AR
|
| 952 |
|
|
|d 264
|j 2024
|b 11
|c 06
|h 110244
|