NEMO deficiency syndrome

Nuclear factor-kappa B Essential Modulator (NEMO) deficiency syndrome is a rare type of primary immunodeficiency disease that has a highly variable set of symptoms and prognoses. It mainly affects the skin and immune system but has the potential to affect all parts of the body, including the lungs, urinary tract and gastrointestinal tract.[1] It is a genetic condition involving a fault in the IKBKG (IKKγ, also known as the NF-κB essential modulator (NEMO)) gene. It was identified in 1999. NEMO deficiency is X-linked and therefore mostly affects males, although it can rarely appear in females who may also be symptomless genetic carriers of one copy of the gene.[2]

References

  1. ↑ Cheng LE, Kanwar B, Tcheurekdjian H, Grenert JP, Muskat M, Heyman MB, McCune JM, Wara DW (2009). "Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome". Clinical Immunology (Orlando, Fla.). 132 (1): 124–31. doi:10.1016/j.clim.2009.03.514. PMC 2800791Freely accessible. PMID 19375390.
  2. ↑ NEMO deficiency syndrome information, Great Ormond Street Hospital for Children
This article is issued from Wikipedia - version of the 6/26/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.