Article
Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions.
The Journal of allergy and clinical immunology - 1 Jul 2016
Giacomelli Mauro, Kumar Rajesh, Soresina Annarosa, Tamassia Nicola, Lorenzini Tiziana, Moratto Daniele, Gasperini Sara, Cassatella Marco, Plebani Alessandro, Lougaris Vassilios, Badolato Raffaele
Abstract excerpt
BACKGROUND: Partial DiGeorge syndrome (pDGS) is caused by deletion of the 22q11.2 region. Within this region lies CrK-like (CRKL), a gene encoding an adapter protein belonging to the Crk family that is involved in the signaling cascade of IL-2, stromal cell-derived factor 1α, and type I interferon. Although recurrent infections can be observed in patients with deletion of chromosome 22 syndrome, the immune...
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