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CHaPTEr 40  Autoantibody-Mediated Phenocopies of Primary Immunodeficiency Diseases                   567



               ON THE HOrIZON                                      9.  Hoflich C, Sabat R, Rosseau S, et al. Naturally occurring anti-IFN-
                                                                    γautoantibody and severe infections with Mycobacterium cheloneae and
            •  Anticytokine autoantibodies are an emerging mechanism underlying   Burkholderia cocovenenans. Blood 2004;103:673–5.
              the pathogenesis of immune deficiency in previously “healthy” adults.  10.  Kampitak T, Suwanpimolkul G, Browne S, et al. Anti-interferon-
            •  The clinical manifestations of these diseases, like pulmonary involve-  γautoantibody and opportunistic infections: case series and review of the
              ment in anti–granulocyte macrophage–colony-stimulating factor   literature. Infection 2011;39:65–71.
              (GM-CSF) associated pulmonary alveolar proteinosis (PAP), may provide   11.  Patel SY, Ding L, Brown MR, et al. Anti-IFN-γautoantibodies in
              insight to signaling pathways and target cells of the involved   disseminated nontuberculous mycobacterial infections. J Immunol
              cytokine.                                             2005;175:4769–76.
            •  Recent  discovery  of  many  anticytokine  autoantibody–associated   12.  O’Connell E, Rosen LB, LaRue RW, et al. The first US domestic report of
              diseases suggests that other idiopathic immunodeficiency diseases   disseminated Mycobacterium avium complex and anti-interferon-
              may be the result of an autoantibody affecting an as-yet unknown   γautoantibodies. J Clin Immunol 2014;34:928–32.
              signaling pathway or cell type.                     13.  Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis
            •  Much research needs to be done on the management of patients   ectodermal dystrophy. J Clin Immunol 2015;35:463–78.
              with these syndromes, since besides just treating the symptomatic
              consequences of the autoantibody, the autoantibody or its generation   14.  Huang H, Benoist C, Mathis D. Rituximab specifically depletes short-lived
              itself can now be targeted.                           autoreactive plasma cells in a mouse model of inflammatory arthritis.
            •  Profiling anticytokine autoantibodies in patients with immunodeficiency   Proc Natl Acad Sci USA 2010;107:4658–63.
              could help personalize their management by potentially predicting   15.  Uchida K, Beck DC, Yamamoto T, et al. GM-CSF autoantibodies and
              disease manifestations and optimizing treatment options.  neutrophil dysfunction in pulmonary alveolar proteinosis. N Engl J Med
                                                                    2007;356:567–79.
                                                                  16.  Witty LA, Tapson VF, Piantadosi CA. Isolation of mycobacteria in
           IFN-γ–IL-12 pathway. The observation of high-titer, neutralizing   patients with pulmonary alveolar proteinosis. Medicine (Baltimore)
           anticytokine autoantibodies in an expanding number of diseases,   1994;73:103–9.
                                                    7
           beyond just those characterized by immune deficiency,  combined   17.  Rosen LB, Freeman AF, Yang LM, et al. Anti-GM-CSF autoantibodies in
           with the opportunity for novel therapeutic approaches to their   patients with cryptococcal meningitis. J Immunol 2013;190:3959–66.
           diagnoses, mandates that their presence be not merely considered   18.  Saijo T, Chen J, Chen SC, et al. Anti-granulocyte-macrophage
           but rigorously sought.                                   colony-stimulating factor autoantibodies are a risk factor for central
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           ACKNOWLEDGEMENTS                                       19.  Rosen LB, Rocha Pereira N, Figueiredo C, et al. Nocardia-induced
                                                                    granulocyte macrophage colony-stimulating factor is neutralized by
           This work was supported by the Divisions of Intramural Research   autoantibodies in disseminated/extrapulmonary nocardiosis. Clin Infect
           of National Institute of Arthritis and Musculoskeletal and Skin   Dis 2015;60:1017–25.
           Diseases (NIAMS) and National Institute of Allergy and Infectious   20.  Kavuru MS, Sullivan EJ, Piccin R, et al. Exogenous
           Diseases (NIAID) of the National Institutes of Health (NIH),   granulocyte-macrophage colony-stimulating factor administration for
           Bethesda, MD.                                            pulmonary alveolar proteinosis. Am J Respir Crit Care Med
                                                                    2000;161:1143–8.
           Please check your eBook at https://expertconsult.inkling.com/   21.  Tazawa R, Trapnell BC, Inoue Y, et al. Inhaled granulocyte/macrophage-
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           details.                                                 Am J Respir Crit Care Med 2010;181:1345–54.
                                                                  22.  Kavuru MS, Malur A, Marshall I, et al. An open-label trial of rituximab
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