Mycobacterial Infections in Primary Immunodeficiency Patients

  • Elizaveta Galkina
  • Irina Kondratenko
  • Andrey Bologov
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 601)


Primary immunodeficiencies (PID) are a diverse group of hereditary diseases leading to the impaired immune response that creates high susceptibility to mycobacterium infection. High susceptibility to mycobacterial infections of patients suffering from defects of phagocytosis and combined immunodeficiencies can be explained by predominant participation of macrophages and T lymphocytes in the specific immune response. Mycobacterium tuberculosis, Bacille Calmette-Guerin, and non-tuberculosis mycobacterium (NTM) may cause a severe disease in patients with PIDs. We report here our results of the clinical features of mycobacterium infection presentations in 36 patients with various PIDs.


Chronic Granulomatous Disease Mycobacterial Infection Severe Combine Immunodeficiency Common Variable Immunodeficiency Nijmegen Breakage Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Abramowsky, C., Gonzalez, B. and Sorensen, R.U. (1993) Disseminated bacillus Calmette-Guerin infections in patients with primary immunodeficiencies. Am. J. Clin. Pathol. 100, 52–56.PubMedGoogle Scholar
  2. Bloom, B.R. and Small, P.M. (1998) The evolving relation between humans and Mycobacterium tuberculosis. N. Engl. J. Med. 338, 677–678.CrossRefPubMedGoogle Scholar
  3. Brooks, E.G., Klimpel, G.R., Vaidya, S.E., Keeney, S.E., Raimer, S., Goldman, A.S. and Schmalstieg, F.C. (1994) Thymic hypoplasia and T cell deficiency in ectodermal dysplasia: case report and review of the literature. Clin. Immunol. Immunopathol. 71, 44–52.CrossRefPubMedGoogle Scholar
  4. Casanova, J.L. and Abel, L. (2002) Genetic dissection of immunity to mycobacteria: the human model. Annu. Rev. Immunol. 20, 581–620.CrossRefPubMedGoogle Scholar
  5. Doffinger, R., Smahi, A., Bessia, C., Geissmann, F., Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S., Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S.H., Headon, D.J., Overbeek, P.A., Le Deist, F., Holland, S.M., Belani, K., Kumararatne, D.S., Fischer, A., Shapiro, R., Conley, M.E., Reimund, E., Kalhoff, H., Abinun, M., Munnich, A., Israel, A., Courtois, G. and Casanova, J.L. (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat. Genet. 27, 277–285.CrossRefPubMedGoogle Scholar
  6. Dupuis-Girod, S., Corradini, N., Hadj-Rabia, S., Fournet, J.C., Faivre, L., Le Deist, F., Durand, P., Doffinger, R., Smahi, A., Israel, A., Courtois, G., Brousse, N., Blanche, S., Munnich, A., Fischer, A., Casanova, J.L. and Bodemer, C. (2002) Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 109, e97.CrossRefPubMedGoogle Scholar
  7. Fisch, P., Millner, M., Muller, S.M., Wahn, U., Friedrich, W. and Renz, H. (1999) Expansion of gammadelta T cells in an infant with severe combined immunodeficiency syndrome after disseminated BCG infection and bone marrow transplantation. J. Allergy Clin. Immunol. 103, 1218–1219.CrossRefPubMedGoogle Scholar
  8. Gonzalez, B., Moreno, S., Burdach, R., Valenzuela, M.T., Henriquez, A., Ramos, M.I. and Sorensen, R.U. (1989) Clinical presentation of Bacillus Calmette-Guerin infections in patients with immunodeficiency syndromes. Pediatr. Infect. Dis. J. 8, 201–206.PubMedGoogle Scholar
  9. Grimbacher, B., Holland, S.M., Gallin, J.I., Greenberg, F., Hill, S.C., Malech, H.L., Miller, J.A., O’Connell, A.C. and Puck, J.M. (1999) Hyper-IgE syndrome with recurrent infections–an autosomal dominant multisystem disorder. N. Engl. J. Med. 340, 692–702.CrossRefPubMedGoogle Scholar
  10. Heyderman, R.S., Morgan, G., Levinsky, R.J. and Strobel, S. (1991) Successful bone marrow transplantation and treatment of BCG infection in two patients with severe combined immunodeficiency. Eur. J. Pediatr. 150, 477–480.CrossRefPubMedGoogle Scholar
  11. Hugosson, C. and Harfi, H. (1991) Disseminated BCG-osteomyelitis in congenital immunodeficiency. Pediatr. Radiol. 21, 384–385.CrossRefPubMedGoogle Scholar
  12. Kobayashi, Y., Komazawa, Y., Kobayashi, M., Matsumoto, T., Sakura, N., Ishikawa, K. and Usui, T. (1984) Presumed BCG infection in a boy with chronic granulomatous disease. A report of a case and a review of the literature. Clin. Pediatr. (Phila) 23, 586–589.CrossRefGoogle Scholar
  13. Lau, Y.L., Chan, G.C., Ha, S.Y., Hui, Y.F. and Yuen, K.Y. (1998) The role of phagocytic respiratory burst in host defense against Mycobacterium tuberculosis. Clin. Infect. Dis. 26, 226–227.CrossRefPubMedGoogle Scholar
  14. Levy, J., Espanol-Boren, T., Thomas, C., Fischer, A., Tovo, P., Bordigoni, P., Resnick, I., Fasth, A., Baer, M., Gomez, L., Sanders, E.A., Tabone, M.D., Plantaz, D., Etzioni, A., Monafo, V., Abinun, M., Hammarstrom, L., Abrahamsen, T., Jones, A., Finn, A., Klemola, T., DeVries, E., Sanal, O., Peitsch, M.C. and Notarangelo, L.D. (1997) Clinical spectrum of X-linked hyper-IgM syndrome. J. Pediatr. 131, 47–54.CrossRefPubMedGoogle Scholar
  15. Minegishi, M., Tsuchiya, S., Imaizumi, M., Yamaguchi, Y., Goto, Y., Tamura, M., Konno, T. and Tada, K. (1985) Successful transplantation of soy bean agglutinin-fractionated, histoincompatible, maternal marrow in a patient with severe combined immunodeficiency and BCG infection. Eur. J. Pediatr. 143, 291–294.CrossRefPubMedGoogle Scholar
  16. Ohga, S., Ikeuchi, K., Kadoya, R., Okada, K., Miyazaki, C., Suita, S. and Ueda, K. (1997) Intrapulmonary Mycobacterium avium infection as the first manifestation of chronic granulomatous disease. J. Infect. 34, 147–150.CrossRefPubMedGoogle Scholar
  17. Pasic, S., Lilic, D., Pejnovic, N., Vojvodic, D., Simic, R. and Abinun, M. (1998) Disseminated Bacillus Calmette-Guerin infection in a girl with hyperimmunoglobulin E syndrome. Acta Paediatr. 87, 702–704.CrossRefPubMedGoogle Scholar
  18. Plotkin, S.A. (1994) Vaccines for varicella-zoster virus and cytomegalovirus: recent progress. Science 265, 1383–1385.CrossRefPubMedGoogle Scholar
  19. Rastogi, N., Legrand, E. and Sola, C. (2001) The mycobacteria: an introduction to nomenclature and pathogenesis. Rev. Sci. Tech. 20, 21–54.PubMedGoogle Scholar
  20. Reichenbach, J., Rosenzweig, S., Doffinger, R., Dupuis, S., Holland, S.M. and Casanova, J.L. (2001) Mycobacterial diseases in primary immunodeficiencies. Curr. Opin. Allergy Clin. Immunol. 1, 503–511.CrossRefPubMedGoogle Scholar
  21. Rolph, M.S., Raupach, B., Kobernick, H.H., Collins, H.L., Perarnau, B., Lemonnier, F.A. and Kaufmann, S.H. (2001) MHC class Ia-restricted T cells partially account for beta2-microglobulin-dependent resistance to Mycobacterium tuberculosis. Eur. J. Immunol. 31, 1944–1949.CrossRefPubMedGoogle Scholar
  22. Romanus, V., Fasth, A., Tordai, P. and Wiholm, B.E. (1993) Adverse reactions in healthy and immunocompromised children under six years of age vaccinated with the Danish BCG vaccine, strain Copenhagen 1331: implications for the vaccination policy in Sweden. Acta Paediatr. 82, 1043–1052.CrossRefPubMedGoogle Scholar
  23. Stenger, S., Mazzaccaro, R.J., Uyemura, K., Cho, S., Barnes, P.F., Rosat, J.P., Sette, A., Brenner, M.B., Porcelli, S.A., Bloom, B.R. and Modlin, R.L. (1997) Differential effects of cytolytic T cell subsets on intracellular infection. Science 276, 1684–1687.CrossRefPubMedGoogle Scholar
  24. Urban, C., Becker, H., Mutz, I. and Fritsch, G. (1980) BCG-infection in chronic granulomatous disease (author’s translation). Klin. Padiatr. 192, 13–18.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Elizaveta Galkina
    • 1
  • Irina Kondratenko
    • 1
  • Andrey Bologov
    • 1
  1. 1.Russian Clinical Children’s HospitalMoscowRussia

Personalised recommendations