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Nature Research, Nature Immunology, 3(12), p. 213-221, 2011

DOI: 10.1038/ni.1992

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Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Journal article published in 2011 by Jacinta Bustamante, Andres Aa Arias, Guillaume Vogt, Capucine Picard ORCID, Lb Galicia, Carolina Prando, Av Grant, Christophe Cc Marchal, Marjorie Hubeau, Ariane Chapgier, Ludovic de Beaucoudrey, Anne Puel, Jacqueline Feinberg, Ethan Valinetz, Lucile Jannière and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Germline mutations in CYBB, the human gene encoding the gp91(phox) subunit of the phagocyte NADPH oxidase, impair the respiratory burst of all types of phagocytes and result in X-linked chronic granulomatous disease (CGD). We report here two kindreds in which otherwise healthy male adults developed X-linked recessive Mendelian susceptibility to mycobacterial disease (MSMD) syndromes. These patients had previously unknown mutations in CYBB that resulted in an impaired respiratory burst in monocyte-derived macrophages but not in monocytes or granulocytes. The macrophage-specific functional consequences of the germline mutation resulted from cell-specific impairment in the assembly of the NADPH oxidase. This 'experiment of nature' indicates that CYBB is associated with MSMD and demonstrates that the respiratory burst in human macrophages is a crucial mechanism for protective immunity to tuberculous mycobacteria.