By Gilles Courtois, Alessandra Pescatore, Jérémie Gautheron, Francesca Fusco, Matilde Valeria Ursini, Anna Senegas
This e-book provides the various scientific, mobile and molecular manifestations of NF-KB-related genetic illnesses. It exhibits that learning patient-related pathologies affecting the parts of the NF-KB signaling pathway deals the chance to appreciate many of the capabilities of NF-KB in people, complementing stories played with mouse types. furthermore, humans treating these sufferers gather a deeper realizing of the molecular foundation of the pathophysiological processes.
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Extra resources for NF-κB-Related Genetic Diseases
Among them is the recurrent one that deletes exon 4–10 of NEMO in approximately 70 % of IP patients (Red frame). See text for details worth noting that G6PD is a disease gene causing the X-linked G6PD deﬁciency (OMIM 305900) , the most common enzymopathy in humans. 7-kb segmental duplication (low copy repeats, LCRs) containing also its non-functional truncated copy, pseudoNEMO (ΨNEMO). The two LCRs, covering the functional gene (LCR1) and its pseudogene copy (LCR2), are arranged in an opposite orientation and are highly homologous and prone to recombination [11–13].
In a substantial fraction of EDA-ID patients, gut inflammation/colitis has been reported. This does not seem to be caused by mycobacteria or pathogenic bacteria. It is uncertain whether this relates instead to impaired Nod2 signaling and therefore presents similarities to Crohn’s disease. The role played by NEMO in homeostasis of the intestinal epithelium (see Sect. 3) may also be evoked. EDA-ID patients also exhibit an impaired development of skin appendages. This results in sparse hair, missing or scanty eyebrows and lashes, severe oligodontia, and absent or reduced sweating.
Skin anomalies are usually not speciﬁcally treated, mostly because of an incomplete knowledge of the mechanisms/components involved. As said above, TNF-α plays a key role in mouse models of the disease, and anti-TNF-α treatments are available for humans. Nevertheless, it is still uncertain whether inhibiting a process that results in elimination of mutated cells would provide some beneﬁts. Since even a small pool of surviving NEMO (−) cells can re-initiate the disease, keeping those cells alive at young ages with an anti-TNF-α treatment may transform the disease in a chronic one, considering also that skin abnormalities in IP display similarities with psoriasis.