Transient Hemophagocytosis With Deficient Cellular Cytotoxicity, Monoclonal Immunoglobulin M Gammopathy, Increased T-Cell Numbers, and Hypomorphic NEMO …
JMP Schmid, SA Junge, JP Hossle, EM Schneider… - …, 2006 - publications.aap.org
X-linked osteopetrosis, anhydrotic ectodermal dysplasia, and immunodeficiency (XL-O-EDA-
ID) is a disorder that is caused by hypomorphic mutations in the nuclear factor κB essential
modulator (NEMO). These mutations lead to an impaired NF-κB activation. In vitro analyses
and studies in animal models show that inhibition of NF-κB leads to a decrease of cytokine
production and T-cell proliferation. Patients classically display poor or delayed inflammatory
response to infections. We describe a boy with XL-O-EDA-ID, 1167-1168insC NEMO …
ID) is a disorder that is caused by hypomorphic mutations in the nuclear factor κB essential
modulator (NEMO). These mutations lead to an impaired NF-κB activation. In vitro analyses
and studies in animal models show that inhibition of NF-κB leads to a decrease of cytokine
production and T-cell proliferation. Patients classically display poor or delayed inflammatory
response to infections. We describe a boy with XL-O-EDA-ID, 1167-1168insC NEMO …