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Lymphoproliferative Disorders in Primary Immune Deficiencies

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  • Alkhairy, O. K., Abolhassani, H., Rezaei, N., Fang, M., Andersen, K. K., Chavoshzadeh, Z., Mohammadzadeh, I., El-Rajab, M. A., Massaad, M., Chou, J., Aghamohammadi, A., Geha, R. S., & Hammarstrom, L. (2016). Spectrum of phenotypes associated with mutations in LRBA. Journal of Clinical Immunology, 36(1), 33–45.

    Article  CAS  Google Scholar 

  • Ameratunga, R., Woon, S. T., Gillis, D., Koopmans, W., & Steele, R. (2013). New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin. Clinical and Experimental Immunology, 174(2), 203–211.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Angulo, I., Vadas, O., Garcon, F., Banham-Hall, E., Plagnol, V., Leahy, T. R., Baxendale, H., Coulter, T., Curtis, J., Wu, C., Blake-Palmer, K., Perisic, O., Smyth, D., Maes, M., Fiddler, C., Juss, J., Cilliers, D., Markelj, G., Chandra, A., Farmer, G., Kielkowska, A., Clark, J., Kracker, S., Debre, M., Picard, C., Pellier, I., Jabado, N., Morris, J. A., Barcenas-Morales, G., Fischer, A., Stephens, L., Hawkins, P., Barrett, J. C., Abinun, M., Clatworthy, M., Durandy, A., Doffinger, R., Chilvers, E. R., Cant, A. J., Kumararatne, D., Okkenhaug, K., Williams, R. L., Condliffe, A., & Nejentsev, S. (2013). Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage. Science, 342(6160), 866–871.

    Article  CAS  Google Scholar 

  • Arico, M., Mussolin, L., Carraro, E., Buffardi, S., Santoro, N., D’Angelo, P., Lombardi, A., Pierani, P., Giraldi, E., Mura, R., Sala, A., Garaventa, A., Tondo, A., Piglione, M., Lo Nigro, L., Cesaro, S., Perruccio, K., Rosolen, A., Basso, G., Pillon, M., & N. H.-C. o. t. I. A. o. P. H. Oncology. (2015). Non-Hodgkin lymphoma in children with an associated inherited condition: A retrospective analysis of the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP). Pediatric Blood & Cancer, 62(10), 1782–1789.

    Article  CAS  Google Scholar 

  • Aydin, S. E., Kilic, S. S., Aytekin, C., Kumar, A., Porras, O., Kainulainen, L., Kostyuchenko, L., Genel, F., Kutukculer, N., Karaca, N., Gonzalez-Granado, L., Abbott, J., Al-Zahrani, D., Rezaei, N., Baz, Z., Thiel, J., Ehl, S., Marodi, L., Orange, J. S., Sawalle-Belohradsky, J., Keles, S., Holland, S. M., Sanal, O., Ayvaz, D. C., Tezcan, I., Al-Mousa, H., Alsum, Z., Hawwari, A., Metin, A., Matthes-Martin, S., Honig, M., Schulz, A., Picard, C., Barlogis, V., Gennery, A., Ifversen, M., van Montfrans, J., Kuijpers, T., Bredius, R., Duckers, G., Al-Herz, W., Pai, S. Y., Geha, R., Notheis, G., Schwarze, C. P., Tavil, B., Azik, F., Bienemann, K., Grimbacher, B., Heinz, V., Gaspar, H. B., Aydin, R., Hagl, B., Gathmann, B., Belohradsky, B. H., Ochs, H. D., Chatila, T., Renner, E. D., Su, H., Freeman, A. F., Engelhardt, K., Albert, M. H., & E. inborn errors working party of. (2015). DOCK8 deficiency: Clinical and immunological phenotype and treatment options – A review of 136 patients. Journal of Clinical Immunology, 35(2), 189–198.

    Article  CAS  Google Scholar 

  • Bousfiha, A., Jeddane, L., Al-Herz, W., Ailal, F., Casanova, J. L., Chatila, T., Conley, M. E., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Gaspar, H. B., Holland, S. M., Klein, C., Nonoyama, S., Ochs, H. D., Oksenhendler, E., Picard, C., Puck, J. M., Sullivan, K. E., & Tang, M. L. (2015). The 2015 IUIS phenotypic classification for primary immunodeficiencies. Journal of Clinical Immunology, 35(8), 727–738.

    Article  Google Scholar 

  • Bousfiha, A., Jeddane, L., Picard, C., Ailal, F., Bobby Gaspar, H., Al-Herz, W., Chatila, T., Crow, Y. J., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Ochs, H. D., Oksenhendler, E., Puck, J., Tang, M. L. K., Tangye, S. G., Torgerson, T. R., Casanova, J. L., & Sullivan, K. E. (2018). The 2017 IUIS phenotypic classification for primary immunodeficiencies. Journal of Clinical Immunology, 38(1), 129–143.

    Article  Google Scholar 

  • Chaigne-Delalande, B., Li, F. Y., O’Connor, G. M., Lukacs, M. J., Jiang, P., Zheng, L., Shatzer, A., Biancalana, M., Pittaluga, S., Matthews, H. F., Jancel, T. J., Bleesing, J. J., Marsh, R. A., Kuijpers, T. W., Nichols, K. E., Lucas, C. L., Nagpal, S., Mehmet, H., Su, H. C., Cohen, J. I., Uzel, G., & Lenardo, M. J. (2013). Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. Science, 341(6142), 186–191.

    Article  CAS  Google Scholar 

  • Charbonnier, L. M., Janssen, E., Chou, J., Ohsumi, T. K., Keles, S., Hsu, J. T., Massaad, M. J., Garcia-Lloret, M., Hanna-Wakim, R., Dbaibo, G., Alangari, A. A., Alsultan, A., Al-Zahrani, D., Geha, R. S., & Chatila, T. A. (2015). Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. The Journal of Allergy and Clinical Immunology, 135(1), 217–227.

    Article  CAS  Google Scholar 

  • Cotelingam, J. D., Witebsky, F. G., Hsu, S. M., Blaese, R. M., & Jaffe, E. S. (1985). Malignant lymphoma in patients with the Wiskott-Aldrich syndrome. Cancer Investigation, 3(6), 515–522.

    Article  CAS  Google Scholar 

  • Coulter, T. I., Chandra, A., Bacon, C. M., Babar, J., Curtis, J., Screaton, N., Goodlad, J. R., Farmer, G., Steele, C. L., Leahy, T. R., Doffinger, R., Baxendale, H., Bernatoniene, J., Edgar, J. D., Longhurst, H. J., Ehl, S., Speckmann, C., Grimbacher, B., Sediva, A., Milota, T., Faust, S. N., Williams, A. P., Hayman, G., Kucuk, Z. Y., Hague, R., French, P., Brooker, R., Forsyth, P., Herriot, R., Cancrini, C., Palma, P., Ariganello, P., Conlon, N., Feighery, C., Gavin, P. J., Jones, A., Imai, K., Ibrahim, M. A., Markelj, G., Abinun, M., Rieux-Laucat, F., Latour, S., Pellier, I., Fischer, A., Touzot, F., Casanova, J. L., Durandy, A., Burns, S. O., Savic, S., Kumararatne, D. S., Moshous, D., Kracker, S., Vanhaesebroeck, B., Okkenhaug, K., Picard, C., Nejentsev, S., Condliffe, A. M., & Cant, A. J. (2017). Clinical spectrum and features of activated phosphoinositide 3-kinase delta syndrome: A large patient cohort study. The Journal of Allergy and Clinical Immunology, 139(2), 597–606 e594.

    Article  CAS  Google Scholar 

  • Cunningham-Rundles, C., Cooper, D. L., Duffy, T. P., & Strauchen, J. (2002). Lymphomas of mucosal-associated lymphoid tissue in common variable immunodeficiency. American Journal of Hematology, 69(3), 171–178.

    Article  CAS  Google Scholar 

  • Deau, M. C., Heurtier, L., Frange, P., Suarez, F., Bole-Feysot, C., Nitschke, P., Cavazzana, M., Picard, C., Durandy, A., Fischer, A., & Kracker, S. (2014). A human immunodeficiency caused by mutations in the PIK3R1 gene. The Journal of Clinical Investigation, 124(9), 3923–3928.

    Article  CAS  Google Scholar 

  • Egg, D., Schwab, C., Gabrysch, A., Arkwright, P. D., Cheesman, E., Giulino-Roth, L., Neth, O., Snapper, S., Okada, S., Moutschen, M., Delvenne, P., Pecher, A. C., Wolff, D., Kim, Y. J., Seneviratne, S., Kim, K. M., Kang, J. M., Ojaimi, S., McLean, C., Warnatz, K., Seidl, M., & Grimbacher, B. (2018). Increased risk for malignancies in 131 affected CTLA4 mutation carriers. Frontiers in Immunology, 9, 2012.

    Article  Google Scholar 

  • Elkaim, E., Neven, B., Bruneau, J., Mitsui-Sekinaka, K., Stanislas, A., Heurtier, L., Lucas, C. L., Matthews, H., Deau, M. C., Sharapova, S., Curtis, J., Reichenbach, J., Glastre, C., Parry, D. A., Arumugakani, G., McDermott, E., Kilic, S. S., Yamashita, M., Moshous, D., Lamrini, H., Otremba, B., Gennery, A., Coulter, T., Quinti, I., Stephan, J. L., Lougaris, V., Brodszki, N., Barlogis, V., Asano, T., Galicier, L., Boutboul, D., Nonoyama, S., Cant, A., Imai, K., Picard, C., Nejentsev, S., Molina, T. J., Lenardo, M., Savic, S., Cavazzana, M., Fischer, A., Durandy, A., & Kracker, S. (2016). Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase delta syndrome 2: A cohort study. The Journal of Allergy and Clinical Immunology, 138(1), 210–218 e219.

    Article  CAS  Google Scholar 

  • Hislop, A. D., Palendira, U., Leese, A. M., Arkwright, P. D., Rohrlich, P. S., Tangye, S. G., Gaspar, H. B., Lankester, A. C., Moretta, A., & Rickinson, A. B. (2010). Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets. Blood, 116(17), 3249–3257.

    Article  CAS  Google Scholar 

  • Kienzler, A. K., Hargreaves, C. E., & Patel, S. Y. (2017). The role of genomics in common variable immunodeficiency disorders. Clinical and Experimental Immunology, 188(3), 326–332.

    Article  CAS  Google Scholar 

  • Kuehn, H. S., Ouyang, W., Lo, B., Deenick, E. K., Niemela, J. E., Avery, D. T., Schickel, J. N., Tran, D. Q., Stoddard, J., Zhang, Y., Frucht, D. M., Dumitriu, B., Scheinberg, P., Folio, L. R., Frein, C. A., Price, S., Koh, C., Heller, T., Seroogy, C. M., Huttenlocher, A., Rao, V. K., Su, H. C., Kleiner, D., Notarangelo, L. D., Rampertaap, Y., Olivier, K. N., McElwee, J., Hughes, J., Pittaluga, S., Oliveira, J. B., Meffre, E., Fleisher, T. A., Holland, S. M., Lenardo, M. J., Tangye, S. G., & Uzel, G. (2014). Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science, 345(6204), 1623–1627.

    Article  CAS  Google Scholar 

  • Latour, S., & Winter, S. (2018). Inherited immunodeficiencies with high predisposition to Epstein-Barr virus-driven lymphoproliferative diseases. Frontiers in Immunology, 9, 1103.

    Article  Google Scholar 

  • Li, F. Y., Chaigne-Delalande, B., Kanellopoulou, C., Davis, J. C., Matthews, H. F., Douek, D. C., Cohen, J. I., Uzel, G., Su, H. C., & Lenardo, M. J. (2011). Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. Nature, 475(7357), 471–476.

    Article  CAS  Google Scholar 

  • Lim, M. S., Straus, S. E., Dale, J. K., Fleisher, T. A., Stetler-Stevenson, M., Strober, W., Sneller, M. C., Puck, J. M., Lenardo, M. J., Elenitoba-Johnson, K. S., Lin, A. Y., Raffeld, M., & Jaffe, E. S. (1998). Pathological findings in human autoimmune lymphoproliferative syndrome. The American Journal of Pathology, 153(5), 1541–1550.

    Article  CAS  Google Scholar 

  • Lo, B., Zhang, K., Lu, W., Zheng, L., Zhang, Q., Kanellopoulou, C., Zhang, Y., Liu, Z., Fritz, J. M., Marsh, R., Husami, A., Kissell, D., Nortman, S., Chaturvedi, V., Haines, H., Young, L. R., Mo, J., Filipovich, A. H., Bleesing, J. J., Mustillo, P., Stephens, M., Rueda, C. M., Chougnet, C. A., Hoebe, K., McElwee, J., Hughes, J. D., Karakoc-Aydiner, E., Matthews, H. F., Price, S., Su, H. C., Rao, V. K., Lenardo, M. J., & Jordan, M. B. (2015). AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science, 349(6246), 436–440.

    Article  CAS  Google Scholar 

  • Lucas, C. L., Kuehn, H. S., Zhao, F., Niemela, J. E., Deenick, E. K., Palendira, U., Avery, D. T., Moens, L., Cannons, J. L., Biancalana, M., Stoddard, J., Ouyang, W., Frucht, D. M., Rao, V. K., Atkinson, T. P., Agharahimi, A., Hussey, A. A., Folio, L. R., Olivier, K. N., Fleisher, T. A., Pittaluga, S., Holland, S. M., Cohen, J. I., Oliveira, J. B., Tangye, S. G., Schwartzberg, P. L., Lenardo, M. J., & Uzel, G. (2014a). Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency. Nature Immunology, 15(1), 88–97.

    Article  CAS  Google Scholar 

  • Lucas, C. L., Zhang, Y., Venida, A., Wang, Y., Hughes, J., McElwee, J., Butrick, M., Matthews, H., Price, S., Biancalana, M., Wang, X., Richards, M., Pozos, T., Barlan, I., Ozen, A., Rao, V. K., Su, H. C., & Lenardo, M. J. (2014b). Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. The Journal of Experimental Medicine, 211(13), 2537–2547.

    Article  CAS  Google Scholar 

  • Malphettes, M., Gerard, L., Carmagnat, M., Mouillot, G., Vince, N., Boutboul, D., Berezne, A., Nove-Josserand, R., Lemoing, V., Tetu, L., Viallard, J. F., Bonnotte, B., Pavic, M., Haroche, J., Larroche, C., Brouet, J. C., Fermand, J. P., Rabian, C., Fieschi, C., Oksenhendler, E., & Group, D. S. (2009). Late-onset combined immune deficiency: A subset of common variable immunodeficiency with severe T cell defect. Clinical Infectious Diseases, 49(9), 1329–1338.

    Article  CAS  Google Scholar 

  • Maric, I., Pittaluga, S., Dale, J. K., Niemela, J. E., Delsol, G., Diment, J., Rosai, J., Raffeld, M., Puck, J. M., Straus, S. E., & Jaffe, E. S. (2005). Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome. The American Journal of Surgical Pathology, 29(7), 903–911.

    Article  Google Scholar 

  • Ochs, H. D., Filipovich, A. H., Veys, P., Cowan, M. J., & Kapoor, N. (2009). Wiskott-Aldrich syndrome: Diagnosis, clinical and laboratory manifestations, and treatment. Biology of Blood and Marrow Transplantation, 15(1 Suppl), 84–90.

    Article  Google Scholar 

  • Oliveira, J. B., Bleesing, J. J., Dianzani, U., Fleisher, T. A., Jaffe, E. S., Lenardo, M. J., Rieux-Laucat, F., Siegel, R. M., Su, H. C., Teachey, D. T., & Rao, V. K. (2010). Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): Report from the 2009 NIH International Workshop. Blood, 116(14), e35–e40.

    Article  CAS  Google Scholar 

  • Pasic, S., Vujic, D., Djuricic, S., Jevtic, D., & Grujic, B. (2006). Burkitt lymphoma-induced ileocolic intussusception in Wiskott-Aldrich syndrome. Journal of Pediatric Hematology/Oncology, 28(1), 48–49.

    PubMed  Google Scholar 

  • Picard, C., Bobby Gaspar, H., Al-Herz, W., Bousfiha, A., Casanova, J. L., Chatila, T., Crow, Y. J., Cunningham-Rundles, C., Etzioni, A., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Ochs, H. D., Oksenhendler, E., Puck, J., Tang, M. L. K., Tangye, S. G., Torgerson, T. R., & Sullivan, K. E. (2018). International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. Journal of Clinical Immunology, 38(1), 96–128.

    Article  Google Scholar 

  • Price, S., Shaw, P. A., Seitz, A., Joshi, G., Davis, J., Niemela, J. E., Perkins, K., Hornung, R. L., Folio, L., Rosenberg, P. S., Puck, J. M., Hsu, A. P., Lo, B., Pittaluga, S., Jaffe, E. S., Fleisher, T. A., Rao, V. K., & Lenardo, M. J. (2014). Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood, 123(13), 1989–1999.

    Article  CAS  Google Scholar 

  • Rezaei, N., Mahmoudi, E., Aghamohammadi, A., Das, R., & Nichols, K. E. (2011). X-linked lymphoproliferative syndrome: A genetic condition typified by the triad of infection, immunodeficiency and lymphoma. British Journal of Haematology, 152(1), 13–30.

    Article  CAS  Google Scholar 

  • Schubert, D., Bode, C., Kenefeck, R., Hou, T. Z., Wing, J. B., Kennedy, A., Bulashevska, A., Petersen, B. S., Schaffer, A. A., Gruning, B. A., Unger, S., Frede, N., Baumann, U., Witte, T., Schmidt, R. E., Dueckers, G., Niehues, T., Seneviratne, S., Kanariou, M., Speckmann, C., Ehl, S., Rensing-Ehl, A., Warnatz, K., Rakhmanov, M., Thimme, R., Hasselblatt, P., Emmerich, F., Cathomen, T., Backofen, R., Fisch, P., Seidl, M., May, A., Schmitt-Graeff, A., Ikemizu, S., Salzer, U., Franke, A., Sakaguchi, S., Walker, L. S. K., Sansom, D. M., & Grimbacher, B. (2014). Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nature Medicine, 20(12), 1410–1416.

    Article  CAS  Google Scholar 

  • Sebire, N. J., Haselden, S., Malone, M., Davies, E. G., & Ramsay, A. D. (2003). Isolated EBV lymphoproliferative disease in a child with Wiskott-Aldrich syndrome manifesting as cutaneous lymphomatoid granulomatosis and responsive to anti-CD20 immunotherapy. Journal of Clinical Pathology, 56(7), 555–557.

    Article  CAS  Google Scholar 

  • Seleman, M., Hoyos-Bachiloglu, R., Geha, R. S., & Chou, J. (2017). Uses of next-generation sequencing technologies for the diagnosis of primary immunodeficiencies. Frontiers in Immunology, 8, 847.

    Article  Google Scholar 

  • Shabani, M., Nichols, K. E., & Rezaei, N. (2016). Primary immunodeficiencies associated with EBV-induced lymphoproliferative disorders. Critical Reviews in Oncology/Hematology, 108, 109–127.

    Article  Google Scholar 

  • Suarez, F., Mahlaoui, N., Canioni, D., Andriamanga, C., Dubois d’Enghien, C., Brousse, N., Jais, J. P., Fischer, A., Hermine, O., & Stoppa-Lyonnet, D. (2015). Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: A report from the French national registry of primary immune deficiencies. Journal of Clinical Oncology, 33(2), 202–208.

    Article  Google Scholar 

  • Tangye, S. G. (2014). XLP: Clinical features and molecular etiology due to mutations in SH2D1A encoding SAP. Journal of Clinical Immunology, 34(7), 772–779.

    Article  CAS  Google Scholar 

  • Verma, N., Burns, S. O., Walker, L. S. K., & Sansom, D. M. (2017). Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations. Clinical and Experimental Immunology, 190(1), 1–7.

    Article  CAS  Google Scholar 

  • Zhang, Q., Davis, J. C., Lamborn, I. T., Freeman, A. F., Jing, H., Favreau, A. J., Matthews, H. F., Davis, J., Turner, M. L., Uzel, G., Holland, S. M., & Su, H. C. (2009). Combined immunodeficiency associated with DOCK8 mutations. The New England Journal of Medicine, 361(21), 2046–2055.

    Article  CAS  Google Scholar 

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  1. Center for Cancer Research, Laboratory of Pathology, National Institutes of Health, National Cancer Institute, Bethesda, MD, USA

    Stefania Pittaluga

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    J.H.J.M. van Krieken

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Pittaluga, S. (2019). Lymphoproliferative Disorders in Primary Immune Deficiencies. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_4771-1

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