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                    <forename type="first">Mary C.</forename>
                    <surname>Dinauer</surname>
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                    <surname>Abel</surname>
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                <idno type="issn">1529-2908</idno>
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                <title level="j">Nature Immunology</title>
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                  <publisher>Nature Publishing Group</publisher>
                  <date type="datePub">2011-01-30</date>
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              <idno type="doi">10.1038/ni.1992</idno>
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                <term xml:lang="en">Innate immunity</term>
                <term xml:lang="en">Macrophages</term>
                <term xml:lang="en">Monocytes</term>
                <term xml:lang="en">Granulocytes</term>
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              <p>Germline mutations in the human CYBB gene, encoding the gp91phox subunit of the phagocyte NADPH oxidase, impair the respiratory burst of phagocytes and result in X-linked chronic granulomatous disease. We report two kindreds in which otherwise healthy male adults show X-linked recessive Mendelian susceptibility to mycobacterial diseases. These patients harbor mutations in CYBB that profoundly reduce the respiratory burst in monocyte-derived macrophages, but not in monocytes or granulocytes. The macrophage-specific functional consequences of the germline mutation result from the cell-specific impairment of NADPH oxidase assembly. This "experiment of nature" indicates that the respiratory burst in human macrophages is a crucial mechanism for protective immunity to mycobacteria.</p>
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