{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360011146220105856.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1111/j.1749-6632.2011.06273.x"}},{"identifier":{"@type":"URI","@value":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1749-6632.2011.06273.x"}},{"identifier":{"@type":"URI","@value":"https://nyaspubs.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1749-6632.2011.06273.x"}}],"dc:title":[{"@value":"Genetic lessons learned from X‐linked Mendelian susceptibility to mycobacterial diseases"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:p>Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as <jats:italic>Mycobacterium bovis</jats:italic> Bacille Calmette Guérin (BCG) vaccines and nontuberculous, environmental mycobacteria (EM). Since 1996, MSMD‐causing mutations have been found in six autosomal genes involved in IL‐12/23–dependent, IFN‐γ–mediated immunity. The aim of this review is to provide the description of the two described forms of X‐linked 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—incontinentia pigmenti (IP) and anhidrotic ectodermal dysplasia with immunodeficiency (EDA‐ID) (<jats:italic>NEMO/IKKG</jats:italic>), and X‐linked chronic granulomatous disease (CGD) (<jats:italic>CYBB</jats:italic>)—but specific mutations in either of these two genes have recently been shown to cause XR‐MSMD. NEMO is an essential component of several NF‐κB–dependent signaling pathways. The MSMD‐causing mutations in <jats:italic>NEMO</jats:italic> selectively affect the CD40‐dependent induction of IL‐12 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‐causing 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–IL‐12, <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>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1380011146220105860","@type":"Researcher","foaf:name":[{"@value":"Jacinta Bustamante"}]},{"@id":"https://cir.nii.ac.jp/crid/1380011146220105857","@type":"Researcher","foaf:name":[{"@value":"Capucine Picard"}]},{"@id":"https://cir.nii.ac.jp/crid/1380298341832658304","@type":"Researcher","foaf:name":[{"@value":"Stéphanie Boisson‐Dupuis"}]},{"@id":"https://cir.nii.ac.jp/crid/1380011146220105859","@type":"Researcher","foaf:name":[{"@value":"Laurent Abel"}]},{"@id":"https://cir.nii.ac.jp/crid/1380298341832658305","@type":"Researcher","foaf:name":[{"@value":"Jean‐Laurent Casanova"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"00778923"},{"@type":"EISSN","@value":"17496632"}],"prism:publicationName":[{"@value":"Annals of the New York Academy of Sciences"}],"dc:publisher":[{"@value":"Wiley"}],"prism:publicationDate":"2011-12","prism:volume":"1246","prism:number":"1","prism:startingPage":"92","prism:endingPage":"101"},"reviewed":"false","dc:rights":["http://onlinelibrary.wiley.com/termsAndConditions#vor"],"url":[{"@id":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1749-6632.2011.06273.x"},{"@id":"https://nyaspubs.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1749-6632.2011.06273.x"}],"createdAt":"2012-01-05","modifiedAt":"2023-09-17","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360004231382570112","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"ICON: The Early Diagnosis of Congenital Immunodeficiencies"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1111/j.1749-6632.2011.06273.x"},{"@type":"CROSSREF","@value":"10.1007/s10875-014-0003-x_references_DOI_AQYbFiNB11JIkYuxNaPlxXoK3Nl"}]}