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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
nervous system infection by Cryptococcus gattii in otherwise
immunocompetent patients. MBio 2014;5:e00912–14.
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-
for self-assessment questions. See inside cover for registration colony stimulating factor as therapy for pulmonary alveolar proteinosis.
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
REFERENCES therapy in pulmonary alveolar proteinosis. Eur Respir J 2011;38:
1361–7.
1. Seymour JF, Presneill JJ. Pulmonary alveolar proteinosis: progress in the 23. Bustamante J, Boisson-Dupuis S, Abel L, et al. Mendelian susceptibility
first 44 years. Am J Respir Crit Care Med 2002;166:215–35. to mycobacterial disease: genetic, immunological, and clinical features
2. Browne SK, Burbelo PD, Chetchotisakd P, et al. Adult-onset of inborn errors of IFN-gamma immunity. Semin Immunol 2014;26:
immunodeficiency in Thailand and Taiwan. N Engl J Med 454–70.
2012;367:725–34. 24. Ku CL, Lin CH, Chang SW, et al. Anti-IFN-γautoantibodies are strongly
3. Kisand K, Boe Wolff AS, Podkrajsek KT, et al. Chronic mucocutaneous associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across
candidiasis in APECED or thymoma patients correlates with Southeast Asia. J Allergy Clin Immunol 2016;137:945–8.e8.
autoimmunity to Th17-associated cytokines. J Exp Med 25. Xie YL, Rosen LB, Sereti I, et al. Severe paradoxical reaction during
2010;207:299–308. treatment of disseminated tuberculosis in a patient with neutralizing
4. Puel A, Doffinger R, Natividad A, et al. Autoantibodies against IL-17A, anti-IFN-γ autoantibodies. Clin Infect Dis 2016;62:770–3.
IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis 26. Baerlecken N, Jacobs R, Stoll M, et al. Recurrent, multifocal
and autoimmune polyendocrine syndrome type I. J Exp Med Mycobacterium avium-intercellulare infection in a patient with
2010;207:291–7. interferon-γautoantibody. Clin Infect Dis 2009;49:e76–8.
5. Puel A, Picard C, Lorrot M, et al. Recurrent staphylococcal cellulitis and 27. McDonald DR. TH17 deficiency in human disease. J Allergy Clin
subcutaneous abscesses in a child with autoantibodies against IL-6. J Immunol 2012;129:1429–35, quiz 36–7.
Immunol 2008;180:647–54. 28. Holland SM, DeLeo FR, Elloumi HZ, et al. STAT3 mutations in the
6. Casadevall N, Dupuy E, Molho-Sabatier P, et al. Autoantibodies against hyper-IgE syndrome. N Engl J Med 2007;357:1608–19.
erythropoietin in a patient with pure red-cell aplasia. N Engl J Med 29. Kampmann B, Hemingway C, Stephens A, et al. Acquired predisposition
1996;334:630–3. to mycobacterial disease due to autoantibodies to IFN-gamma. J Clin
7. Riches PL, McRorie E, Fraser WD, et al. Osteoporosis associated with Invest 2005;115:2480–8.
neutralizing autoantibodies against osteoprotegerin. N Engl J Med 30. Macdougall IC, Rossert J, Casadevall N, et al. A peptide-based
2009;361:1459–65. erythropoietin-receptor agonist for pure red-cell aplasia. N Engl J Med
8. Browne SK, Zaman R, Sampaio EP, et al. Anti-CD20 (Rituximab) therapy 2009;361:1848–55.
for anti-IFN-γautoantibody-associated nontuberculous mycobacterial
infection. Blood 2012;119:3933–9.

