Characterization of pathogenic and likely pathogenic variants in Romanian children with inborn errors of immunity

被引：0
|
作者：
Pantea, Cristina-Loredana [1 ,2 ]
Chirita-Emandi, Adela [1 ,2 ]
Bataneant, Mihaela [3 ]
Puiu, Maria [1 ,2 ]
机构：
[1] Victor Babes Univ Med & Pharm Timisoara, Ctr Genom Med, Genet Discipline, Genet, Timisoara, Romania
[2] Clin Emergency Hosp Children Louis Turcanu Timiso, Reg Ctr Med Genet Timis, ERN ITHACA, Genet, Timisoara, Romania
[3] Emergency Hosp Children Louis Turcanu, Genet, Timisoara, Romania
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
EP09.015
引用
收藏
页码：1035 / 1036
页数：2
相关论文
共 50 条
  • [1] PATHOGENIC AND POTENTIALLY PATHOGENIC INBORN ERRORS OF IMMUNITY VARIANTS IN PEDIATRIC SEVERE SEPSIS
    Kernan, Kate
    Ghaloul-Gonzalez, Lina
    Vockley, Jerry
    Lamb, Janette
    Hollingshead, Deborah
    Sethi, Rahil
    Park, Hyun-Jung
    Carcillo, Joseph
    Berg, Robert
    Wessel, David
    Pollack, Murray
    Meert, Kathleen
    Hall, Mark
    Newth, Christopher
    Lin, John
    Doctor, Allan
    Shanley, Tom
    Cornell, Timothy
    Harrison, Rick
    CRITICAL CARE MEDICINE, 2022, 50 (01) : 723 - 723
  • [2] Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis
    Kernan, Kate F.
    Ghaloul-Gonzalez, Lina
    Vockley, Jerry
    Lamb, Janette
    Hollingshead, Deborah
    Chandran, Uma
    Sethi, Rahil
    Park, Hyun-Jung
    Berg, Robert A.
    Wessel, David
    Pollack, Murray M.
    Meert, Kathleen L.
    Hall, Mark W.
    Newth, Christopher J. L.
    Lin, John C.
    Doctor, Allan
    Shanley, Tom
    Cornell, Tim
    Harrison, Rick E.
    Zuppa, Athena F.
    Banks, Russel
    Reeder, Ron W.
    Holubkov, Richard
    Notterman, Daniel A.
    Dean, J. Michael
    Carcillo, Joseph A.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (02) : 350 - 364
  • [3] Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis
    Kate F. Kernan
    Lina Ghaloul-Gonzalez
    Jerry Vockley
    Janette Lamb
    Deborah Hollingshead
    Uma Chandran
    Rahil Sethi
    Hyun-Jung Park
    Robert A. Berg
    David Wessel
    Murray M. Pollack
    Kathleen L. Meert
    Mark W. Hall
    Christopher J. L. Newth
    John C. Lin
    Allan Doctor
    Tom Shanley
    Tim Cornell
    Rick E. Harrison
    Athena F. Zuppa
    Russel Banks
    Ron W. Reeder
    Richard Holubkov
    Daniel A. Notterman
    J. Michael Dean
    Joseph A. Carcillo
    Journal of Clinical Immunology, 2022, 42 : 350 - 364
  • [4] Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations
    Sriretnakumar, Venuja
    Harripaul, Ricardo
    Vincent, John B.
    Kennedy, James L.
    So, Joyce
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2019, 180 (01) : 46 - 54
  • [5] Germline variants in urothelial carcinoma: Analysis of pathogenic and likely pathogenic variants in 645 subjects
    Abou Alaiwi, Sarah
    Nassar, Amin
    Mouw, Kent William
    Kwiatkowski, David J.
    Choueiri, Toni K.
    Curran, Catherine
    Van Allen, Eliezer Mendel
    Esplin, Edward D.
    Yang, Shan
    Garber, Judy Ellen
    Rana, Huma Q.
    Sonpavde, Guru
    JOURNAL OF CLINICAL ONCOLOGY, 2019, 37 (15)
  • [6] Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort
    Roggenbuck, Jennifer
    Palettas, Marilly
    Vicini, Leah
    Patel, Radha
    Quick, Adam
    Kolb, Stephen J.
    NEUROLOGY-GENETICS, 2020, 6 (01)
  • [7] Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies
    Kheir, Valeria
    Cortes-Gonzalez, Vianney
    Zenteno, Juan C.
    Schorderet, Daniel F.
    HUMAN MUTATION, 2019, 40 (06) : 675 - 693
  • [8] Novel genetic variants of inborn errors of immunity
    Almarzooqi, Farida
    Souid, Abdul-Kader
    Vijayan, Ranjit
    Al-Hammadi, Suleiman
    PLOS ONE, 2021, 16 (01):
  • [9] Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
    Kumar, Anil
    Jain, Vandana
    Chowdhury, Madhumita Roy
    Kumar, Manoj
    Kaur, Punit
    Kabra, Madhulika
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2020, 33 (01): : 79 - 88
  • [10] Prevalence of Germline Pathogenic and Likely Pathogenic Variants in Patients With Second Breast Cancers
    Yao, Katharine A. K.
    Clifford, Jacob
    Li, Shuwei
    LaDuca, Holly
    Hulick, Peter
    Gutierrez, Stephanie
    Black, Mary Helen
    JNCI CANCER SPECTRUM, 2020, 4 (06)
12345