ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen

被引：0
|
作者：
Lee, Ashley Sang Eun [1 ]
Abraham, Roshini S. [2 ]
Basu, Amrita [2 ]
Lederman, Howard [3 ]
Cunningham-Rundles, Charlotte [1 ]
机构：
[1] Icahn Sch Med Mt Sinai, Div Allergy & Immunol, 1425 Madison Ave, 11th Floor, New York, NY 10029 USA
[2] Nationwide Childrens Hosp, Dept Pathol & Lab Med, Columbus, OH USA
[3] Johns Hopkins Childrens Ctr, Div Allergy & Immunol, Baltimore, MD USA
来源：
CLINICAL IMMUNOLOGY | 2024年 / 265卷
关键词：
Severe combined immunodeficiency; Lymphopenia; ataxia telangiectasia; DNA double strand breaks; Gamma-H2AX; Phosphorylated ATM; Lymphocytes; TREC; RISKS;
D O I：
10.1016/j.clim.2024.110294
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
引用
收藏
页数：4
相关论文
共 50 条
  • [21] Ataxia-telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity
    Becker-Catania, SG
    Chen, G
    Hwang, MJ
    Wang, ZJ
    Sun, X
    Sanal, O
    Bernatowska-Matuszkiewicz, E
    Chessa, L
    Lee, EYHP
    Gatti, RA
    MOLECULAR GENETICS AND METABOLISM, 2000, 70 (02) : 122 - 133
  • [22] ATM: the product of the gene mutated in ataxia-telangiectasia
    Lavin, MF
    INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY, 1999, 31 (07): : 735 - 740
  • [23] Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene
    Meyn, MS
    CLINICAL GENETICS, 1999, 55 (05) : 289 - 304
  • [24] Predominance of null mutations in ataxia-telangiectasia
    Gilad, S
    Khosravi, R
    Shkedy, D
    Uziel, T
    Ziv, Y
    Savitsky, K
    Rotman, G
    Smith, S
    Chessa, L
    Jorgensen, TJ
    Harnik, R
    Frydman, M
    Sanal, O
    Portnoi, S
    Goldwicz, Z
    Jaspers, NGJ
    Gatti, RA
    Lenoir, G
    Lavin, MF
    Tatsumi, K
    Wegner, RD
    Shiloh, Y
    BarShira, A
    HUMAN MOLECULAR GENETICS, 1996, 5 (04) : 433 - 439
  • [25] Genetic mutations in ataxia-telangiectasia patients
    Karuta, S.
    Teive, H.
    Raskin, S.
    Bugallo, M. J.
    Arruda, W.
    PARKINSONISM & RELATED DISORDERS, 2009, 15 : S49 - S49
  • [26] Ataxia-telangiectasia: Mutations and molecular diagnostics
    Gatti, RA
    Castellvi-Bel, S
    Sheikhavandi, S
    Telatar, M
    MOLECULAR IMMUNOLOGY, 1998, 35 (11-12) : 736 - 736
  • [27] report RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia
    Gu, Chunyu
    Wang, Hong
    Shu, Jianbo
    Zheng, Jie
    Li, Dong
    Cai, Chunquan
    Zhang, Peiyuan
    CLINICA CHIMICA ACTA, 2021, 523 : 6 - 9
  • [28] Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer
    Spring, K
    Ahangari, F
    Scott, SP
    Waring, P
    Purdie, DM
    Chen, PC
    Hourigan, K
    Ramsay, J
    McKinnon, PJ
    Swift, M
    Lavin, MF
    NATURE GENETICS, 2002, 32 (01) : 185 - 190
  • [29] Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer
    Kevin Spring
    Farida Ahangari
    Shaun P. Scott
    Paul Waring
    David M. Purdie
    Philip C. Chen
    Kevin Hourigan
    Jonathan Ramsay
    Peter J. McKinnon
    Michael Swift
    Martin F. Lavin
    Nature Genetics, 2002, 32 : 185 - 190
  • [30] DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia:: Fourteen novel ATM mutations
    Magliozzi, Monia
    Piane, Maria
    Torrente, Isabella
    Sinibaldi, Lorenzo
    Rizzo, Giovanni
    Savio, Camilla
    Lulli, Patrizia
    De Luca, Alessandro
    Dallapiccola, Bruno
    Chessa, Luciana
    DISEASE MARKERS, 2006, 22 (04) : 257 - 264
12345