Novel genetic variants in a cohort of severe combined immunodeficiency from India

被引:0
|
作者
Rawat, Amit [1 ]
Pandiarajan, Vignesh [2 ]
Suri, Deepti [2 ]
Gupta, Anju [2 ]
Bhattad, Sagar [3 ]
Sharma, Madhubala [2 ]
Kumrah, Rajni [2 ]
Dhir, Retika [2 ]
Rajendran, Aruna [4 ]
Chan, Koon Wing [5 ]
Ogura, Yumi [6 ]
Imai, Kohsuke [7 ]
Ohara, Osamu [8 ]
Nonoyama, Shigeaki [6 ]
Hershfield, Michael [9 ]
Saikia, Biman [2 ]
Minz, Ranjana [10 ]
Lau, Yu-Lung [11 ,12 ]
Singh, Surjit [13 ]
机构
[1] Postgrad Inst Med Educ & Res, Pediat Allergy & Immunol, Chandigarh, India
[2] Postgrad Inst Med Educ & Res, Chandigarh, India
[3] Aster CMI Hosptal, Bengaluru, India
[4] Inst Child Hlth, Madras, Tamil Nadu, India
[5] Queen Mary Hosp, Dept Pediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China
[6] Natl Def Med Coll, Saitama, Japan
[7] Tokyo Dent & Med Univ, Tokyo, Japan
[8] Kazusa DNA Res Insitute, Chiba, Japan
[9] Duke Univ, Med Ctr, Med & Biochem, Durham, NC 27706 USA
[10] Postgrad Inst Med Educ & Res, Dept Immunopathol, Chandigarh, India
[11] Univ Hong Kong, Queen Mary Hosp, Dept Paediat & Adolescent Med, Pediat, Hong Kong, Hong Kong, Peoples R China
[12] Univ Hong Kong, Shenzhen Hosp, Shenzhen Primary Immunodeficiency Diagnost & Ther, Shenzhen, Peoples R China
[13] Postgrad Inst Med Educ & Res, Dept Pediat, Chandigarh, India
关键词
D O I
暂无
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
121
引用
收藏
页码:388 / 388
页数:1
相关论文
共 50 条
  • [1] The genetic basis of severe combined immunodeficiency and its variants
    Tasher, Diana
    Dalal, Ilan
    [J]. APPLICATION OF CLINICAL GENETICS, 2012, 5 : 67 - 80
  • [2] Severe combined immunodeficiency: A cohort of 40 patients
    Yeganeh, Mehdi
    Heidarzade, Marzieh
    Pourpak, Zahra
    Parvaneh, Nima
    Rezaei, Nima
    Gharagozlou, Mohammad
    Movahedi, Masoud
    Shabestari, Mahnaz Sadeghi
    Mamishi, Setareh
    Aghamohammadi, Asghar
    Moin, Mostafa
    [J]. PEDIATRIC ALLERGY AND IMMUNOLOGY, 2008, 19 (04) : 303 - 306
  • [3] The Genetic and Molecular Basis of Severe Combined Immunodeficiency
    Picard C.
    Moshous D.
    Fischer A.
    [J]. Current Pediatrics Reports, 2015, 3 (1) : 22 - 33
  • [4] GENETIC-STUDIES IN SEVERE COMBINED IMMUNODEFICIENCY
    DESAINTBASILE, G
    DISANTO, JP
    FISCHER, A
    [J]. CLINICAL IMMUNOLOGY AND IMMUNOPATHOLOGY, 1995, 76 (03): : S165 - S167
  • [5] Severe combined immunodeficiency diagnosis and genetic defects
    Aranda, Carolina Sanchez
    Gouveia-Pereira, Mariana Pimentel
    da Silva, Celso Jose Mendanha
    Rizzo, Maria Candida Faria Varanda
    Ishizuka, Edson
    de Oliveira, Edgar Borges
    Condino-Neto, Antonio
    [J]. IMMUNOLOGICAL REVIEWS, 2024, 322 (01) : 138 - 147
  • [6] NOVEL GENETIC VARIANTS IN SCLERODERMA SUBPHENOTYPES IDENTIFIED BY IMMUNOCHIP IN A COMBINED US AND SPANISH COHORT
    Mayes, M.
    Gorlova, O.
    Bossini-Castillo, L.
    Martin, E.
    Ying, J.
    Gregersen, P.
    Lee, A.
    Assassi, S.
    Agarwal, S.
    Tan, F.
    Reveille, J.
    Zhou, X.
    Wigley, F.
    Hummers, L.
    Arnett, F.
    Simeon, C.
    Carreira, P.
    Ortego, N.
    Gonzalez-Gray, M.
    Martin, J.
    [J]. RHEUMATOLOGY, 2012, 51 : 34 - 34
  • [7] Biallelic MTHFD1 variants presenting as severe combined immunodeficiency
    Lee, Ashley Sang Eun
    Rotella, Karina
    Agyemang, Amanda
    Ho, Hsi- En
    Oishi, Kimihiko
    Cunningham-Rundles, Charlotte
    [J]. CLINICAL IMMUNOLOGY, 2023, 255
  • [8] Base editing: a novel cure for severe combined immunodeficiency
    Ha, Teng-Cheong
    Morgan, Michael
    Schambach, Axel
    [J]. SIGNAL TRANSDUCTION AND TARGETED THERAPY, 2023, 8 (01)
  • [9] Base editing: a novel cure for severe combined immunodeficiency
    Teng-Cheong Ha
    Michael Morgan
    Axel Schambach
    [J]. Signal Transduction and Targeted Therapy, 8
  • [10] Severe combined immunodeficiency (SCID): From the detection of a new mutation to preimplantation genetic diagnosis
    Reut Tomashov-Matar
    Galia Biran
    Irina Lagovsky
    Neomi Kotler
    Anat Stein
    Benjamin Fisch
    Onit Sapir
    Mordechai Shohat
    [J]. Journal of Assisted Reproduction and Genetics, 2012, 29 : 687 - 692