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Since 1996, MSMD\u2010causing mutations have been found in six autosomal genes involved in IL\u201012\/23\u2013dependent, IFN\u2010\u03b3\u2013mediated immunity. The aim of this review is to provide the description of the two described forms of X\u2010linked recessive (XR) MSMD. Germline mutations in two genes, <jats:italic>NEMO<\/jats:italic> and <jats:italic>CYBB<\/jats:italic>, have long been known to cause other human diseases\u2014incontinentia pigmenti (IP) and anhidrotic ectodermal dysplasia with immunodeficiency (EDA\u2010ID) (<jats:italic>NEMO\/IKKG<\/jats:italic>), and X\u2010linked chronic granulomatous disease (CGD) (<jats:italic>CYBB<\/jats:italic>)\u2014but specific mutations in either of these two genes have recently been shown to cause XR\u2010MSMD. NEMO is an essential component of several NF\u2010\u03baB\u2013dependent signaling pathways. The MSMD\u2010causing mutations in <jats:italic>NEMO<\/jats:italic> selectively affect the CD40\u2010dependent induction of IL\u201012 in mononuclear cells. <jats:italic>CYBB<\/jats:italic> encodes gp91<jats:italic><jats:sup>phox<\/jats:sup><\/jats:italic>, which is an essential component of the NADPH oxidase in phagocytes. The MSMD\u2010causing mutation in <jats:italic>CYBB<\/jats:italic> selectively affects the respiratory burst in macrophages. Mutations in <jats:italic>NEMO<\/jats:italic> and <jats:italic>CYBB<\/jats:italic> may therefore cause MSMD by selectively exerting their deleterious impact on a single signaling pathway (CD40\u2013IL\u201012, <jats:italic>NEMO<\/jats:italic>) or a single cell type (macrophages, <jats:italic>CYBB<\/jats:italic>). These experiments of Nature illustrate how specific germline mutations in pleiotropic genes can dissociate signaling pathways or cell lineages, thereby resulting in surprisingly narrow clinical phenotypes.<\/jats:p>","DOI":"10.1111\/j.1749-6632.2011.06273.x","type":"journal-article","created":{"date-parts":[[2012,1,5]],"date-time":"2012-01-05T07:41:23Z","timestamp":1325749283000},"page":"92-101","source":"Crossref","is-referenced-by-count":80,"title":["Genetic lessons learned from X\u2010linked Mendelian susceptibility to mycobacterial diseases"],"prefix":"10.1111","volume":"1246","author":[{"given":"Jacinta","family":"Bustamante","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Boisson\u2010Dupuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Abel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,1,3]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki033"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.immunol.20.081501.125851"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.smim.2006.07.010"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20052302"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0018524"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-011-9523-9"},{"key":"e_1_2_7_8_2","first-page":"1138","article-title":"Our experiences in three years of BCG vaccination at the center of the O.P.H.S. at Constantine; study of observed cases (25 cases of complications from BCG vaccination).","volume":"55","author":"Mimouni J.","year":"1951","journal-title":"Alger. 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