Novel IL2RG Gene Mutation in One of Dizygotic Twins Causing Profound Changes of Receptor Structure

Autor: Magdalena Rutkowska-Zapała, Anna Szaflarska, Anna Kluczewska, Julia Ciȩciwa, Jacek Plewka, Anna Michalska, Maciej Siedlar

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

In this study, we report a 4-month-old boy with T−B+NK− severe combined immunodeficiency (SCID) due to a novel mutation in exon 2 of IL2RG, the gene encoding the interleukin (IL) common gamma chain (γc) of the cytokine receptors for IL-2, IL-4,

Externí odkaz: https://doaj.org/article/2af000e7753d430ead65937845301317

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

Autor: Pooja Purswani, Cristina Adelia Meehan, Hye Sun Kuehn, Yenhui Chang, Joseph F. Dasso, Anna K. Meyer, Boglarka Ujhazi, Krisztian Csomos, David Lindsay, Taylor Alberdi, Sonia Joychan, Jessica Trotter, Carla Duff, Maryssa Ellison, Jack Bleesing, Attila Kumanovics, Anne M. Comeau, Jaime E. Hale, Luigi D. Notarangelo, Troy R. Torgersen, Hans D. Ochs, Panida Sriaroon, Benjamin Oshrine, Aleksandra Petrovic, Sergio D. Rosenzweig, Jennifer W. Leiding, Jolan E. Walter

Publikováno v: Frontiers in Pediatrics, Vol 7 (2019)

In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked interleukin 2 recepto

Externí odkaz: https://doaj.org/article/7dff6da8b9b04db68c6c1cd6a8c8dac3

Blockade of Common Gamma Chain Cytokines with REGN7257, an Interleukin 2 Receptor Gamma (IL2RG) Monoclonal Antibody, Protected Mice from Graft-Versus-Host Disease

Autor: Andrew J. Murphy, Jamie M. Orengo, Thomas Norton, Kirsten Nagashima, Audrey Le Floc’h, Matthew A. Sleeman, Lorah Perlee

Publikováno v: Transplantation and Cellular Therapy. 27:S250-S251

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c71d75b86b260e71088dce4c5ca48303
https://doi.org/10.1016/s2666-6367(21)00314-6

IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature

Autor: Sofia K. Appelberg, Che Kang Lim, Lennart Hammarström, Hassan Abolhassani, Mikael Sundin

Publikováno v: Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
Allergy, Asthma & Clinical Immunology, Vol 15, Iss 1, Pp 1-8 (2019)

Background Atypical X-linked severe combined immunodeficiency (X-SCID) is a variant of cellular immunodeficiency due to hypomorphic mutations in the interleukin 2 receptor gamma (IL2RG) gene. Due to a leaky clinical phenotype, diagnosis and appropria

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2e9070fb84573c5968677c5bde3873
http://europepmc.org/articles/PMC6320602

Schizophrenia is associated with over-expression of the interleukin-2 receptor gamma gene

Autor: Petrek Martin, Boyajyan Anna, Zakharyan Roksana, Ghazaryan Hovsep, Melkonyan Ani, Klevcova Petra, Navratilova Zdenka

Publikováno v: Frontiers in Immunology. 4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fa49bb9b34766fca6aed16d8845913a
https://doi.org/10.3389/conf.fimmu.2013.02.00380