Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Bella Shadur"'
Autor:
Adeeb NaserEddin, Nathalie Asherie, Hagar Mor-Shaked, Polina Stepensky, Bella Shadur, Orly Elpeleg, Shlomit Kfir-Erenfeld, Yael Dinur Schejter, Taly Dubnikov
Publikováno v:
European Journal of Human Genetics
The GTPase of immunity-associated proteins (GIMAPs) are a family of genes believed to contribute to lymphocyte development, signaling, and apoptosis, thus playing an important role in immune system homeostasis. While models of gene derangement have b
Autor:
Polina, Stepensky, Baerbel, Keller, Oded, Shamriz, Caroline, von Spee-Mayer, David, Friedmann, Bella, Shadur, Susanne, Unger, Sebastian, Fuchs, Adeeb, NaserEddin, Nisreen, Rumman, Sara, Amro, Vered, Molho Pessach, Omar, Abuzaitoun, Raz, Somech, Orly, Elpeleg, Stephan, Ehl, Klaus, Warnatz
Publikováno v:
Journal of clinical immunology. 38(4)
All reported patients with hypomorphic X-linked severe combined immunodeficiency (X-SCID) due to c.664CT (p.R222C) mutations in the gene (IL2RG) encoding the common γ chain (γc) have presented with opportunistic infections within the first year of