Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
F Fusco, A Pescatore, E Bal, A Ghoul… - Human …, 2008 - Wiley Online Library
Mutations in the inhibitor of kappa light polypeptide gene enhancer in B‐cells, kinase
gamma (IKBKG), also called nuclear factor‐kappaB (NF‐kB) essential modulator (NEMO) …
gamma (IKBKG), also called nuclear factor‐kappaB (NF‐kB) essential modulator (NEMO) …
Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency
JD Fish, RE Duerst, EW Gelfand, JS Orange… - Bone marrow …, 2009 - nature.com
Genetic mutations of proteins regulating nuclear factor of κ-light polypeptide gene enhancer
in B lymphocyte (NF-κB) activation result in heritable diseases of development and …
in B lymphocyte (NF-κB) activation result in heritable diseases of development and …
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation
Amorphic mutations in the NF-κB essential modulator (NEMO) cause X-dominant
incontinentia pigmenti, which is lethal in males in utero, whereas hypomorphic mutations …
incontinentia pigmenti, which is lethal in males in utero, whereas hypomorphic mutations …
Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor–κB essential modulator mutation, with or without ectodermal dysplasia
YS Dai, MG Liang, SE Gellis, FA Bonilla… - Journal of the American …, 2004 - Elsevier
Hypomorphic mutations of the nuclear factor κB essential modulator gene cause ectodermal
dysplasia and immunodeficiency. Affected patients have increased susceptibility to …
dysplasia and immunodeficiency. Affected patients have increased susceptibility to …