POLD3 deficiency is associated with syndromic severe combined immunodeficiency including neurodevelopmental delay and hearing impairment

被引：0
|
作者：
Mehawej, Cybel [1 ]
Chouery, Eliane [1 ]
Azar-Atallah, Shirine [1 ]
Shebaby, Wassim [1 ]
Delague, Valerie [2 ]
Mansour, Issam [3 ]
Mustapha, Mirna [4 ]
Lefranc, Gerard [5 ]
Megarbane, Andre [1 ]
机构：
[1] Lebanese Amer Univ, Beirut, Lebanon
[2] Aix Marseille Univ, Inst Marseille Malad Rares MarMaRa, INSERM, MMG,U 1251, Marseille, France
[3] Inovie, Flow Cytometry Dept, Fayadieh, Lebanon
[4] Univ Sheffield, Neurosci Inst, Sheffield, S Yorkshire, England
[5] Univ Montpellier, Montpellier, France
来源：
CLINICAL IMMUNOLOGY | 2024年 / 262卷
关键词：
POLD3; DNA Polymerase Delta; Severe combined immunodeficiency; Whole exome sequencing; Hearing loss; Neurodevelopmental delay;
D O I：
10.1016/j.clim.2024.109961
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
19
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收藏
页数：1
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