|
|
|
|
| LEADER |
01000caa a22002652 4500 |
| 001 |
NLM355351730 |
| 003 |
DE-627 |
| 005 |
20240403234825.0 |
| 007 |
cr uuu---uuuuu |
| 008 |
231226s2023 xx |||||o 00| ||eng c |
| 024 |
7 |
|
|a 10.1016/j.clim.2023.109326
|2 doi
|
| 028 |
5 |
2 |
|a pubmed24n1362.xml
|
| 035 |
|
|
|a (DE-627)NLM355351730
|
| 035 |
|
|
|a (NLM)37030525
|
| 035 |
|
|
|a (PII)S1521-6616(23)00105-5
|
| 040 |
|
|
|a DE-627
|b ger
|c DE-627
|e rakwb
|
| 041 |
|
|
|a eng
|
| 100 |
1 |
|
|a Mehawej, Cybel
|e verfasserin
|4 aut
|
| 245 |
1 |
0 |
|a POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment
|
| 264 |
|
1 |
|c 2023
|
| 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 23.05.2023
|
| 500 |
|
|
|a Date Revised 03.04.2024
|
| 500 |
|
|
|a published: Print-Electronic
|
| 500 |
|
|
|a Citation Status MEDLINE
|
| 520 |
|
|
|a Copyright © 2023 Elsevier Inc. All rights reserved.
|
| 520 |
|
|
|a Combined immunodeficiency diseases (CID) represent the most severe forms of inborn errors of immunity. Defective T cell development and/or function, leading to an impairment in adaptive immunity are responsible for these diseases. The DNA polymerase δ complex is important for genome duplication and maintenance and consists of the catalytic subunit POLD1, and the accessory subunits POLD2 and POLD3 which stabilizes the complex. Mutations in POLD1 and POLD2 have been recently shown to be associated with a syndromic CID characterized by T cell lymphopenia with or without intellectual deficiency and sensorineural hearing loss. Here we report a homozygous POLD3 variant (NM_006591.3; p.Ile10Thr) in a Lebanese patient, the product of a consanguineous family, presenting with a syndromic severe combined immunodeficiency (SCID) with neurodevelopmental delay and hearing loss. The homozygous POLD3Ile10Thr variant abolishes POLD3 as well as POLD1 and POLD2 expression. Our findings implicate POLD3 deficiency as a novel cause of syndromic SCID
|
| 650 |
|
4 |
|a Journal Article
|
| 650 |
|
4 |
|a Research Support, Non-U.S. Gov't
|
| 650 |
|
4 |
|a DNA polymerase delta
|
| 650 |
|
4 |
|a Hearing loss
|
| 650 |
|
4 |
|a POLD3
|
| 650 |
|
4 |
|a Severe combined immunodeficiency
|
| 650 |
|
4 |
|a Whole exome sequencing
|
| 650 |
|
7 |
|a DNA Polymerase III
|2 NLM
|
| 650 |
|
7 |
|a EC 2.7.7.7
|2 NLM
|
| 700 |
1 |
|
|a Chouery, Eliane
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Azar-Atallah, Shirine
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Shebaby, Wassim
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Delague, Valerie
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Mansour, Issam
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Mustapha, Mirna
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Lefranc, Gerard
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Megarbane, Andre
|e verfasserin
|4 aut
|
| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 251(2023) vom: 08. Juni, Seite 109326
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
|
| 773 |
1 |
8 |
|g volume:251
|g year:2023
|g day:08
|g month:06
|g pages:109326
|
| 856 |
4 |
0 |
|u http://dx.doi.org/10.1016/j.clim.2023.109326
|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 251
|j 2023
|b 08
|c 06
|h 109326
|