Primary immunodeficiency disorders: a glimpse into autoimmunity
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Apr 13, 2015
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Abstract
Primary immunodeficiency disorders (PID) are genetic diseases that primarily manifest as susceptibility to infections. Paradoxically, however, PIDs have been associated with autoimmunity as well. An understanding of the underlying mechanisms of immunity that are disrupted in PIDs actually offers windows of opportunities into understanding how autoimmunity develops, and offers potential targets for curative treatment.
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How to Cite
GAVRILOVA, Tatyana.
Primary immunodeficiency disorders: a glimpse into autoimmunity.
Medical Research Archives, [S.l.], n. 2, apr. 2015.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/72>. Date accessed: 20 apr. 2024.
Keywords
Primary immunodeficiency disorders; autoimmunity; genetic mutation
Issue
Section
Review Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
References
References
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Agarwal, S., and L. Mayer. "Diagnosis and Treatment of Gastrointestinal Disorders in Patients with
Primary Immunodeficiency." [In eng]. Clin Gastroenterol Hepatol 11, no. 9 (Sep 2013): 1050-63.
Anderson, G., S. Baik, J. E. Cowan, A. M. Holland, N. I. McCarthy, K. Nakamura, S. M. Parnell, et al.
"Mechanisms of Thymus Medulla Development and Function." [In eng]. Curr Top Microbiol
Immunol 373 (2014): 19-47.
Arnold, S. J., T. Hodgson, S. A. Misbah, S. Y. Patel, S. M.
Cooper, and V. A. Venning. "Three Difficult Cases: The Challenge of Autoimmunity, Immunodeficiency and Recurrent Infections in Patients with Good Syndrome." [In Eng]. Br J Dermatol (Jul 24 2014).
Baris, S., I. Schulze, A. Ozen, E. K. Aydiner, E. Altuncu, G. T. Karasu, N. Ozturk, et al. "Clinical
Heterogeneity of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked: Pulmonary
Involvement as a Non-Classical Disease Manifestation." [In eng]. J Clin Immunol 34, no. 6 (Aug
2014): 601-6.
Bussone, G., and L. Mouthon. "Autoimmune Manifestations in Primary Immune Deficiencies." [In eng].
Autoimmun Rev 8, no. 4 (Feb 2009): 332-6.
Carter, C. R., G. Aravind, N. L. Smalle, J. Y. Cole, S. Savic, and P. M. Wood. "Cvid Patients with Autoimmunity Have Elevated T Cell Expression of Granzyme B and Hla-Dr and Reduced Levels of Treg Cells." [In eng]. J Clin Pathol 66, no. 2 (Feb 2013): 146-50.
De Ravin, S. S., N. Naumann, E. W. Cowen, J. Friend, D. Hilligoss, M. Marquesen, J. E. Balow, et al. "Chronic Granulomatous Disease as a Risk Factor for Autoimmune Disease." [In eng]. J Allergy Clin Immunol 122, no. 6 (Dec 2008): 1097-103.
Felgentreff, K., R. Perez-Becker, C. Speckmann, K. Schwarz, K. Kalwak, G. Markelj, T. Avcin, et al. "Clinical and Immunological Manifestations of Patients with Atypical Severe Combined Immunodeficiency." [In eng]. Clin Immunol 141, no. 1 (Oct 2011): 73-82.
Hermaszewski, R. A., and A. D. Webster. "Primary Hypogammaglobulinaemia: A Survey of Clinical
Manifestations and Complications." [In eng]. Q J Med 86, no. 1 (Jan 1993): 31-42.
Joven, M. H., M. P. Palalay, and C. Y. Sonido. "Case Report and Literature Review on Good's Syndrome, a Form of Acquired Immunodeficiency Associated with Thymomas." [In eng]. Hawaii J Med Public Health 72, no. 2 (Feb 2013): 56-62.
Katoh, H., P. Zheng, and Y. Liu. "Foxp3: Genetic and Epigenetic Implications for Autoimmunity." [In eng].
J Autoimmun 41 (Mar 2013): 72-8.
Kelleher, P., and S. A. Misbah. "What Is Good's Syndrome? Immunological Abnormalities in Patients with
Thymoma." [In eng]. J Clin Pathol 56, no. 1 (Jan 2003): 12-6.
Kinnunen, T., N. Chamberlain, H. Morbach, J. Choi, S. Kim, J. Craft, L. Mayer, et al. "Accumulation of Peripheral Autoreactive B Cells in the Absence of Functional Human Regulatory T Cells." [In eng]. Blood 121, no. 9 (Feb 28 2013): 1595-603.
Leibovitz, I., D. Zamir, I. Polychuck, T. Reitblat, and D. Gheorghiu. "Recurrent Pneumonia Post- Thymectomy as a Manifestation of Good Syndrome." [In Eng]. Eur J Intern Med 14, no. 1 (Feb
2003): 60-62.
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Li, P., P. Huang, Y. Yang, M. Hao, H. Peng, and F. Li. "Updated Understanding of Autoimmune
Lymphoproliferative Syndrome (Alps)." [In Eng]. Clin Rev Allergy Immunol (Feb 8 2015).
Lougaris, V., M. Vitali, M. Baronio, G. Tampella, and A. Plebani. "Baff-R Mutations in Good's Syndrome." [In eng]. Clin Immunol 153, no. 1 (Jul 2014): 91-3.
Margraf, R. L., E. M. Coonrod, J. D. Durtschi, N. H. Augustine, K. V. Voelkerding, H. R. Hill, and A.
Kumanovics. "Taci Mutation P.Lys154ter Identified in Good Syndrome." [In eng]. Clin Immunol
146, no. 1 (Jan 2013): 10-2.
Podjasek, J. C., and R. S. Abraham. "Autoimmune Cytopenias in Common Variable Immunodeficiency."
[In eng]. Front Immunol 3 (2012): 189.
Romberg, N., N. Chamberlain, D. Saadoun, M. Gentile, T. Kinnunen, Y. S. Ng, M. Virdee, et al. "Cvid- Associated Taci Mutations Affect Autoreactive B Cell Selection and Activation." [In eng]. J Clin Invest 123, no. 10 (Oct 2013): 4283-93.
Samson, M., S. Audia, D. Lakomy, B. Bonnotte, C. Tavernier, and P. Ornetti. "Diagnostic Strategy for Patients with Hypogammaglobulinemia in Rheumatology." [In eng]. Joint Bone Spine 78, no. 3 (May 2011): 241-5.
Seidel, M. G. "Autoimmune and Other Cytopenias in Primary Immunodeficiencies: Pathomechanisms, Novel Differential Diagnoses, and Treatment." [In eng]. Blood 124, no. 15 (Oct 9 2014): 2337-44.
Tachdjian, R., J. J. Keller, and M. Pfeffer. "A Bad Case of Good's Syndrome." [In Eng]. Infect Dis Ther (Oct
7 2014).
Teachey, D. T. "New Advances in the Diagnosis and Treatment of Autoimmune Lymphoproliferative
Syndrome." [In eng]. Curr Opin Pediatr 24, no. 1 (Feb 2012): 1-8.
Walter, J. E., F. Rucci, L. Patrizi, M. Recher, S. Regenass, T. Paganini, M. Keszei, et al. "Expansion of Immunoglobulin-Secreting Cells and Defects in B Cell Tolerance in Rag-Dependent Immunodeficiency." [In eng]. J Exp Med 207, no. 7 (Jul 5 2010): 1541-54.
Waterfield, M., and M. S. Anderson. "Clues to Immune Tolerance: The Monogenic Autoimmune
Syndromes." [In eng]. Ann N Y Acad Sci 1214 (Dec 2010): 138-55.
Xiao, X., Q. Miao, C. Chang, M. E. Gershwin, and X. Ma. "Common Variable Immunodeficiency and
Autoimmunity--an Inconvenient Truth." [In eng]. Autoimmun Rev 13, no. 8 (Aug 2014): 858-64.
Agarwal, S., and C. Cunningham-Rundles. "Autoimmunity in Common Variable Immunodeficiency." [In eng]. Curr Allergy Asthma Rep 9, no. 5 (Sep 2009): 347-52.
Agarwal, S., and L. Mayer. "Diagnosis and Treatment of Gastrointestinal Disorders in Patients with
Primary Immunodeficiency." [In eng]. Clin Gastroenterol Hepatol 11, no. 9 (Sep 2013): 1050-63.
Anderson, G., S. Baik, J. E. Cowan, A. M. Holland, N. I. McCarthy, K. Nakamura, S. M. Parnell, et al.
"Mechanisms of Thymus Medulla Development and Function." [In eng]. Curr Top Microbiol
Immunol 373 (2014): 19-47.
Arnold, S. J., T. Hodgson, S. A. Misbah, S. Y. Patel, S. M.
Cooper, and V. A. Venning. "Three Difficult Cases: The Challenge of Autoimmunity, Immunodeficiency and Recurrent Infections in Patients with Good Syndrome." [In Eng]. Br J Dermatol (Jul 24 2014).
Baris, S., I. Schulze, A. Ozen, E. K. Aydiner, E. Altuncu, G. T. Karasu, N. Ozturk, et al. "Clinical
Heterogeneity of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked: Pulmonary
Involvement as a Non-Classical Disease Manifestation." [In eng]. J Clin Immunol 34, no. 6 (Aug
2014): 601-6.
Bussone, G., and L. Mouthon. "Autoimmune Manifestations in Primary Immune Deficiencies." [In eng].
Autoimmun Rev 8, no. 4 (Feb 2009): 332-6.
Carter, C. R., G. Aravind, N. L. Smalle, J. Y. Cole, S. Savic, and P. M. Wood. "Cvid Patients with Autoimmunity Have Elevated T Cell Expression of Granzyme B and Hla-Dr and Reduced Levels of Treg Cells." [In eng]. J Clin Pathol 66, no. 2 (Feb 2013): 146-50.
De Ravin, S. S., N. Naumann, E. W. Cowen, J. Friend, D. Hilligoss, M. Marquesen, J. E. Balow, et al. "Chronic Granulomatous Disease as a Risk Factor for Autoimmune Disease." [In eng]. J Allergy Clin Immunol 122, no. 6 (Dec 2008): 1097-103.
Felgentreff, K., R. Perez-Becker, C. Speckmann, K. Schwarz, K. Kalwak, G. Markelj, T. Avcin, et al. "Clinical and Immunological Manifestations of Patients with Atypical Severe Combined Immunodeficiency." [In eng]. Clin Immunol 141, no. 1 (Oct 2011): 73-82.
Hermaszewski, R. A., and A. D. Webster. "Primary Hypogammaglobulinaemia: A Survey of Clinical
Manifestations and Complications." [In eng]. Q J Med 86, no. 1 (Jan 1993): 31-42.
Joven, M. H., M. P. Palalay, and C. Y. Sonido. "Case Report and Literature Review on Good's Syndrome, a Form of Acquired Immunodeficiency Associated with Thymomas." [In eng]. Hawaii J Med Public Health 72, no. 2 (Feb 2013): 56-62.
Katoh, H., P. Zheng, and Y. Liu. "Foxp3: Genetic and Epigenetic Implications for Autoimmunity." [In eng].
J Autoimmun 41 (Mar 2013): 72-8.
Kelleher, P., and S. A. Misbah. "What Is Good's Syndrome? Immunological Abnormalities in Patients with
Thymoma." [In eng]. J Clin Pathol 56, no. 1 (Jan 2003): 12-6.
Kinnunen, T., N. Chamberlain, H. Morbach, J. Choi, S. Kim, J. Craft, L. Mayer, et al. "Accumulation of Peripheral Autoreactive B Cells in the Absence of Functional Human Regulatory T Cells." [In eng]. Blood 121, no. 9 (Feb 28 2013): 1595-603.
Leibovitz, I., D. Zamir, I. Polychuck, T. Reitblat, and D. Gheorghiu. "Recurrent Pneumonia Post- Thymectomy as a Manifestation of Good Syndrome." [In Eng]. Eur J Intern Med 14, no. 1 (Feb
2003): 60-62.
Lev, A., A. J. Simon, N. Amariglio, G. Rechavi, and R. Somech. "Selective Clinical and Immune Response of the Oligoclonal Autoreactive T Cells in Omenn Patients after Cyclosporin a Treatment." [In eng]. Clin Exp Immunol 167, no. 2 (Feb 2012): 338-45.
Li, P., P. Huang, Y. Yang, M. Hao, H. Peng, and F. Li. "Updated Understanding of Autoimmune
Lymphoproliferative Syndrome (Alps)." [In Eng]. Clin Rev Allergy Immunol (Feb 8 2015).
Lougaris, V., M. Vitali, M. Baronio, G. Tampella, and A. Plebani. "Baff-R Mutations in Good's Syndrome." [In eng]. Clin Immunol 153, no. 1 (Jul 2014): 91-3.
Margraf, R. L., E. M. Coonrod, J. D. Durtschi, N. H. Augustine, K. V. Voelkerding, H. R. Hill, and A.
Kumanovics. "Taci Mutation P.Lys154ter Identified in Good Syndrome." [In eng]. Clin Immunol
146, no. 1 (Jan 2013): 10-2.
Podjasek, J. C., and R. S. Abraham. "Autoimmune Cytopenias in Common Variable Immunodeficiency."
[In eng]. Front Immunol 3 (2012): 189.
Romberg, N., N. Chamberlain, D. Saadoun, M. Gentile, T. Kinnunen, Y. S. Ng, M. Virdee, et al. "Cvid- Associated Taci Mutations Affect Autoreactive B Cell Selection and Activation." [In eng]. J Clin Invest 123, no. 10 (Oct 2013): 4283-93.
Samson, M., S. Audia, D. Lakomy, B. Bonnotte, C. Tavernier, and P. Ornetti. "Diagnostic Strategy for Patients with Hypogammaglobulinemia in Rheumatology." [In eng]. Joint Bone Spine 78, no. 3 (May 2011): 241-5.
Seidel, M. G. "Autoimmune and Other Cytopenias in Primary Immunodeficiencies: Pathomechanisms, Novel Differential Diagnoses, and Treatment." [In eng]. Blood 124, no. 15 (Oct 9 2014): 2337-44.
Tachdjian, R., J. J. Keller, and M. Pfeffer. "A Bad Case of Good's Syndrome." [In Eng]. Infect Dis Ther (Oct
7 2014).
Teachey, D. T. "New Advances in the Diagnosis and Treatment of Autoimmune Lymphoproliferative
Syndrome." [In eng]. Curr Opin Pediatr 24, no. 1 (Feb 2012): 1-8.
Walter, J. E., F. Rucci, L. Patrizi, M. Recher, S. Regenass, T. Paganini, M. Keszei, et al. "Expansion of Immunoglobulin-Secreting Cells and Defects in B Cell Tolerance in Rag-Dependent Immunodeficiency." [In eng]. J Exp Med 207, no. 7 (Jul 5 2010): 1541-54.
Waterfield, M., and M. S. Anderson. "Clues to Immune Tolerance: The Monogenic Autoimmune
Syndromes." [In eng]. Ann N Y Acad Sci 1214 (Dec 2010): 138-55.
Xiao, X., Q. Miao, C. Chang, M. E. Gershwin, and X. Ma. "Common Variable Immunodeficiency and
Autoimmunity--an Inconvenient Truth." [In eng]. Autoimmun Rev 13, no. 8 (Aug 2014): 858-64.