Mechanisms of immunodeficiency due to NFkappaB signaling defects
Contributors: Geha, Raif S.; Pillai, Shiv; Chatila, Talal; Orange, Jordan; Horwitz, Bruce
Published: 2012
Language: eng
Description: Ectodermal dysplasia with immunodeficiency (ED-ID) is a rare primary immunodeficiency syndrome characterized by defects in ectodermal tissues (skin, hair and sweat glands), recurrent infections, impaired response to Toll-like receptor ligands, hypogammaglobulinemia and deficient antibody production. It is caused by defective NFkappaB signaling.
Notes: Keywords: ectodermal dysplasia, NFkappaB, primary immunodeficiency.

Thesis Ph.D. Harvard University 2012