{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T16:26:22Z","timestamp":1770999982396,"version":"3.50.1"},"reference-count":67,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,1,21]],"date-time":"2022-01-21T00:00:00Z","timestamp":1642723200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministero dell'Istruzione, dell'Universit\u00e0 e della Ricerca Progetto Operativo Nazionale","award":["INBIOMED PON RI 2014-2020"],"award-info":[{"award-number":["INBIOMED PON RI 2014-2020"]}]},{"name":"Incontinentia Pigmenti ASSociazione Italiana (IPASSI)","award":["2019-2020"],"award-info":[{"award-number":["2019-2020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>De novo somatic mutations are well documented in diseases such as neoplasia but are rarely reported in rare diseases. Hovewer, severe genetic diseases that are not compatible with embryonic development are caused exclusively by deleterious mutations that could only be found as mosaic and not as inherited mutations. We will review here the paradigmatic case of Incontinentia Pigmenti, a rare X-linked dominant disease caused by deficiency of the NEMO (also called IKKgamma) protein, which plays a pivotal role in tissue homeostasis. The loss-of-function mutations of NEMO are embryonically lethal in males while females survive because of unbalanced X-inactivation due to NEMO wild type (WT) expressing cells survival despite of NEMO mutant expressing cells. The few surviving IP males are obligatory mosaic mutants with the typical clinical presentation of IP in female. Indeed, the IP pathogenesis in the female and most likely also in the male somatic mosaics is based on the cellular effects of an impaired NEMO activity, but in the context of the interaction of genetically different cells in the affected tissue, which might underline the inflammatory status.<\/jats:p>","DOI":"10.3390\/ijms23031179","type":"journal-article","created":{"date-parts":[[2022,1,21]],"date-time":"2022-01-21T08:37:18Z","timestamp":1642754238000},"page":"1179","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8453-8198","authenticated-orcid":false,"given":"Alessandra","family":"Pescatore","sequence":"first","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati-Traverso\u201d, IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ezia","family":"Spinosa","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati-Traverso\u201d, IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmela","family":"Casale","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati-Traverso\u201d, IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Brigida","family":"Lioi","sequence":"additional","affiliation":[{"name":"Department of Science, University of Basilicata, Viale dell\u2019Ateneo Lucano, 85100 Potenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matilde Valeria","family":"Ursini","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati-Traverso\u201d, IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7578-6058","authenticated-orcid":false,"given":"Francesca","family":"Fusco","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biophysics \u201cAdriano Buzzati-Traverso\u201d, IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1038\/nrg.2016.145","article-title":"Mosaicism in health and disease\u2014Clones picking up speed","volume":"18","author":"Forsberg","year":"2017","journal-title":"Nat. Rev. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ajhg.2015.05.008","article-title":"Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation","volume":"97","author":"Bo","year":"2015","journal-title":"Am. J. Hum. 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