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Esta enfermedad heterog\u00e9nea se caracteriza por disminuci\u00f3n de las inmunoglobulinas s\u00e9ricas, una producci\u00f3n deficiente de anticuerpos espec\u00edficos tras la vacunaci\u00f3n y por infecciones bacterianas recurrentes, en particular de los tractos respiratorio y gastrointestinal. Un subgrupo de pacientes se caracteriza por manifestaciones adicionales, a menudo predominantes, de desregulaci\u00f3n inmunitaria en lugar de inmunodeficiencia pura. Aproximadamente, 30\u00a0% de los pacientes con IDCV desarrolla autoinmunidad. La mitad de las complicaciones se puede atribuir a citopenia autoinmunitaria, pero tambi\u00e9n a otros tipos de autoinmunidad tales como enfermedades autoinmunitarias espec\u00edficas de \u00f3rganos, que se manifiestan a menudo como enfermedad inflamatoria: enfermedad inflamatoria intestinal, enfermedad celiaca, enfermedad pulmonar intersticial, algunas formas de artritis, vit\u00edligo y muchas otras. Nuevos defectos monog\u00e9nicos aclaran el mecanismo inmunopatol\u00f3gico que provoca la coincidencia de inmunodeficiencia y autoinmunidad. Las enfermedades autoinmunitarias se han convertido en el principal desaf\u00edo cl\u00ednico en la IDCV, con nuevas herramientas de diagn\u00f3stico, especialmente gen\u00e9ticas, que mejoran la comprensi\u00f3n de las formas variantes de desregulaci\u00f3n inmunitaria.<\/jats:p>","DOI":"10.29262\/ram.v68i1.894","type":"journal-article","created":{"date-parts":[[2021,6,21]],"date-time":"2021-06-21T01:02:14Z","timestamp":1624237334000},"page":"48-64","source":"Crossref","is-referenced-by-count":0,"title":["Enfermedades autoimunes en pacientes con inmunodeficiencia com\u00fan variable"],"prefix":"10.29262","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3290-8705","authenticated-orcid":false,"given":"Laura","family":"Berr\u00f3n-Ruiz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"11808","published-online":{"date-parts":[[2021,6,7]]},"reference":[{"key":"ref0","unstructured":"Janeway CA, Apt L, Glitin D. Agammaglobulinemia. Trans Assoc Am Physicians. 1953;66:200-202."},{"key":"ref1","doi-asserted-by":"publisher","unstructured":"Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92(1):34-48. DOI: 10.1006\/clim.1999.4725","DOI":"10.1006\/clim.1999.4725"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"Salzer U, Warnatz K, Peter HH. Common variable immunodeficiency - an update. Arthritis Res Ther. 2012;14(5):1-11. DOI: 10.1186\/ar4032","DOI":"10.1186\/ar4032"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"Patuzzo G, Barbieri A, Tinazzi E, Veneri D, Argentino G, Moretta F, et al. Autoimmunity and infection in common variable immunodeficiency (CVID). Autoimmun Rev. 2016;15(9):877-882. DOI: 10.1016\/j.autrev.2016.07.011","DOI":"10.1016\/j.autrev.2016.07.011"},{"key":"ref4","doi-asserted-by":"publisher","unstructured":"Horn J, Thon V, Bartonkova D, Salzer U, Warnatz K, Schlesier M, et al. Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy. Clin Immunol. 2007;122:156-162. DOI: 10.1016\/j.clim.2006.10.002","DOI":"10.1016\/j.clim.2006.10.002"},{"key":"ref5","doi-asserted-by":"publisher","unstructured":"Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS. Common variable immunodeficiency: a new look at an old disease. Lancet. 2008;372(9637):95616. DOI: 10.1016\/S0140-6736(08)61199-X","DOI":"10.1016\/S0140-6736(08)61199-X"},{"key":"ref6","doi-asserted-by":"publisher","unstructured":"Yong PFK, Thaventhiran JED, Grimbacher B. \"A rose is a rose is a rose,\" but CVID is not CVID. Common variable immune deficiency (CVID), what do we know in 2011? Adv Immunol. 2011;111:47-107. DOI: 10.1016\/B978-0-12-385991-4.00002-7","DOI":"10.1016\/B978-0-12-385991-4.00002-7"},{"key":"ref7","doi-asserted-by":"publisher","unstructured":"Di Renzo M, Pasqui AL, Auteri A. Common variable immunodeficiency: a review. Clin Exp Med. 2004;3(4):211-217. DOI: 10.1007\/s10238-004-0027-2","DOI":"10.1007\/s10238-004-0027-2"},{"key":"ref8","doi-asserted-by":"publisher","unstructured":"Bonilla FA, Bernstein IL, Khan DA, Ballas ZK, Chinen J, Frank MM, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy, Asthma Immunol. 2005;94(5 Suppl 1):S1-S63. DOI: 10.1016\/S1081-1206(10)61142-8","DOI":"10.1016\/S1081-1206(10)61142-8"},{"key":"ref9","doi-asserted-by":"publisher","unstructured":"Hammarstr\u00f6m L, Vorechovsky I, Webster D. Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID). Clin Exp Immunol. 2000;120(2):225-231. DOI: 10.1046\/j.1365-2249.2000.01131.x","DOI":"10.1046\/j.1365-2249.2000.01131.x"},{"key":"ref10","doi-asserted-by":"publisher","unstructured":"Morimoto Y, Routes JM. Immunodeficiency overview. Prim Care. 2008;35(1):159-173. DOI: 10.1016\/j.pop.2007.09.004","DOI":"10.1016\/j.pop.2007.09.004"},{"key":"ref11","doi-asserted-by":"publisher","unstructured":"Mehra A, Sidi P, Doucette J, Estrella L, Rouvelas H, Cunningham-Rundles C. Subspecialty evaluation of chronically ill hospitalized patients with suspected immune defects. Ann Allergy, Asthma Immunol. 2007;99(2):143-150. DOI: 10.1016\/S1081-1206(10)60638-2","DOI":"10.1016\/S1081-1206(10)60638-2"},{"key":"ref12","doi-asserted-by":"publisher","unstructured":"Eades-Perner AM, Gathmann B, Knerr V, Guzman D, Veit D, Kindle G, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2004-06. Clin Exp Immunol. 2007;147(2):306-312. DOI: 10.1111\/j.1365-2249.2006.03292.x","DOI":"10.1111\/j.1365-2249.2006.03292.x"},{"key":"ref13","doi-asserted-by":"publisher","unstructured":"Deane S, Selmi C, Naguwa SM, Teuber SS, Gershwin ME. Common variable immunodeficiency: etiological and treatment issues. Int Arch Allergy Immunol. 2009;150(4):311-324. DOI: 10.1159\/000226232","DOI":"10.1159\/000226232"},{"key":"ref14","doi-asserted-by":"publisher","unstructured":"Agarwal S, Cunningham-Rundles C. Assessment and clinical interpretation of reduced IgG values. Ann Allergy Asthma Immunol. 2007;99(3):281-283. DOI: 10.1016\/S1081-1206(10)60665-5","DOI":"10.1016\/S1081-1206(10)60665-5"},{"key":"ref15","doi-asserted-by":"publisher","unstructured":"Conley ME. Diagnostic guidelines - An international consensus document. Clin Immunol. 1999;93(3):189. DOI: 10.1006\/clim.1999.4798","DOI":"10.1006\/clim.1999.4798"},{"key":"ref16","doi-asserted-by":"publisher","unstructured":"Chapel H, Lucas M, Lee M, Bjorkander J, Webster D, Grimbacher B, et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood. 2008;112(2):277-286. DOI: 10.1182\/blood-2007-11-124545","DOI":"10.1182\/blood-2007-11-124545"},{"key":"ref17","doi-asserted-by":"publisher","unstructured":"Gomes-Ochtrop ML, Goldacker S, May AM, Rizzi M, Draeger R, Hauschke D, et al. T and B lymphocyte abnormalities in bone marrow biopsies of common variable immunodeficiency. Blood. 2016;118(2):309-318. DOI: 10.1182\/blood-2010-11-321695","DOI":"10.1182\/blood-2010-11-321695"},{"key":"ref18","doi-asserted-by":"publisher","unstructured":"Taubenheim N, von Hornung M, Durandy A, Warnatz K, Corcoran L, Peter H, et al. Defined blocks in terminal plasma cell differention of common variable immunodeficiency patients. J Immunol. 2005;175(8):5498-5503. 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Severe deficiency of switched memory B cells (CD27+IgM-IgD-) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood. 2002;99(5):1544-1551. DOI: 10.1182\/blood.v99.5.1544","DOI":"10.1182\/blood.V99.5.1544"},{"key":"ref22","doi-asserted-by":"publisher","unstructured":"Agarwal S, Cunningham-Rundles C. Autoimmunity in common variable immunodeficiency. Ann Allergy Asthma Immunol. 2019;123(5):454-460. DOI: 10.1016\/j.anai.2019.07.014","DOI":"10.1016\/j.anai.2019.07.014"},{"key":"ref23","doi-asserted-by":"publisher","unstructured":"Warnatz K, Voll RE. Pathogenesis of autoimmunity in common variable immunodeficiency. Front Immunol. 2012;3:210. DOI: 10.3389\/fimmu.2012.00210","DOI":"10.3389\/fimmu.2012.00210"},{"key":"ref24","doi-asserted-by":"publisher","unstructured":"Feuille EJ, Anooshiravani N, Sullivan KE, Fuleihan RL, Cunningham-Rundles C. 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J Allergy Clin Immunol. 2014;133(2):535-542. DOI: 10.1016\/j.jaci.2013.08.022","DOI":"10.1016\/j.jaci.2013.08.022"},{"key":"ref36","doi-asserted-by":"publisher","unstructured":"Picard C, Bobby-Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018;38(1):96-128. DOI: 10.1007\/s10875-017-0464-9","DOI":"10.1007\/s10875-017-0464-9"},{"key":"ref37","doi-asserted-by":"publisher","unstructured":"Gathmann B, Mahlaoui N, G\u00e9rard L, Oksenhendler E, Warnatz K, Schulze I, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;134(1):7-9. DOI: 10.1016\/j.jaci.2013.12.1077","DOI":"10.1016\/j.jaci.2013.12.1077"},{"key":"ref38","doi-asserted-by":"publisher","unstructured":"Daniels JA, Lederman HM, Maitra A, Montgomery EA. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol. 2007;31(12):1800-1812. DOI: 10.1097\/PAS.0b013e3180cab60c","DOI":"10.1097\/PAS.0b013e3180cab60c"},{"key":"ref39","doi-asserted-by":"publisher","unstructured":"Agarwal S, Smereka P, Harpaz N, Cunningham-Rundles C, Mayer L. Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease. Inflamm Bowel Dis. 2011;17(1):251-259. DOI: 10.1002\/ibd.21376","DOI":"10.1002\/ibd.21376"},{"key":"ref40","doi-asserted-by":"publisher","unstructured":"Megna M, Pecoraro A, Balato N, Villani A, Crescenzi L, Balato A, et al. Psoriasis in a cohort of patients with common variable immunodeficiency. Br J Dermatol. 2019;180(4):935-936. DOI: 10.1111\/bjd.17408","DOI":"10.1111\/bjd.17408"},{"key":"ref41","doi-asserted-by":"publisher","unstructured":"Plana Pla A, Bassas-Vila J, Roure S, Ferr\u00e1ndiz C. Necrotizing and sarcoidal granulomas in the skin and synovial membrane, associated with common variable immunodeficiency. Clin Exp Dermatol. 2015;40(4):379-382. DOI: 10.1111\/ced.12543","DOI":"10.1111\/ced.12543"},{"key":"ref42","doi-asserted-by":"publisher","unstructured":"Pollock G, Sharma A, Minuk GY. Autoimmune hepatitis in a patient with common variable immunodeficiency. ACG Case Reports J. 2020;7(11):e00467. DOI: 10.14309\/crj.0000000000000467","DOI":"10.14309\/crj.0000000000000467"},{"key":"ref43","doi-asserted-by":"publisher","unstructured":"Liston A, Enders A, Siggs OM. Unravelling the association of partial T-cell immunodeficiency and immune dysregulation. Nat Rev Immunol. 2008;8(7):545-558. DOI: 10.1038\/nri2336","DOI":"10.1038\/nri2336"},{"key":"ref44","doi-asserted-by":"publisher","unstructured":"van de Ven AAJM, Warnatz K. The autoimmune conundrum in common variable immunodeficiency disorders. Curr Opin Allergy Clin Immunol. 2015;15(6):514-524. DOI: 10.1097\/ACI.0000000000000218","DOI":"10.1097\/ACI.0000000000000218"},{"key":"ref45","doi-asserted-by":"publisher","unstructured":"Fisher GH, Rosenberg FJ, Straus SE, Dale JK, Middelton LA, Lin AY, et al. Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell. 1995;81(6):935-946. DOI: 10.1016\/0092-8674(95)90013-6","DOI":"10.1016\/0092-8674(95)90013-6"},{"key":"ref46","doi-asserted-by":"publisher","unstructured":"Sakaguchi S, Miyara M, Costantino CM, Hafler DA. FOXP3 + regulatory T cells in the human immune system. Nat Rev Immunol. 2010;10(7):490-500. DOI: 10.1038\/nri2785","DOI":"10.1038\/nri2785"},{"key":"ref47","doi-asserted-by":"publisher","unstructured":"Rosser EC, Mauri C. Regulatory B cells: origin, phenotype, and function. Immunity. 2015;42(4):607-612. DOI: 10.1016\/j.immuni.2015.04.005","DOI":"10.1016\/j.immuni.2015.04.005"},{"key":"ref48","doi-asserted-by":"publisher","unstructured":"Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 2001;27(1):20-21. DOI: 10.1038\/83713","DOI":"10.1038\/83713"},{"key":"ref49","doi-asserted-by":"publisher","unstructured":"Arumugakani G, Wood PMD, Carter CRD. Frequency of treg cells is reduced in CVID patients with autoimmunity and splenomegaly and is associated with expanded CD21lo B lymphocytes. J Clin Immunol. 2010;30(2):292-300. DOI: 10.1007\/s10875-009-9351-3","DOI":"10.1007\/s10875-009-9351-3"},{"key":"ref50","doi-asserted-by":"publisher","unstructured":"L\u00f3pez-Herrera G, Segura-M\u00e9ndez N, O'Farril-Romanillos P, N\u00fa\u00f1ez-N\u00fa\u00f1ez M, Z\u00e1rate-Hern\u00e1ndez M, Mogica-Mart\u00ednez D, et al. Low percentages of regulatory T cells in common variable immunodeficiency (CVID) patients with autoimmune diseases and its association with increased numbers of CD4 + CD45RO + T and CD21 low B cells. Allergol Immunopathol (Madr). 2019;47(5):457-466. DOI: 10.1016\/j.aller.2019.01.003","DOI":"10.1016\/j.aller.2019.01.003"},{"key":"ref51","doi-asserted-by":"publisher","unstructured":"Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014;20(12):1410-1416. DOI: 10.1038\/nm.3746","DOI":"10.1038\/nm.3746"},{"key":"ref52","doi-asserted-by":"publisher","unstructured":"Lopez-Herrera G, Tampella G, Pan-Hammarstro Q, Trujillo-Vargas CM, Phadwal K, Simon AK, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90:986-1001. DOI: 10.1016\/j.ajhg.2012.04.015","DOI":"10.1016\/j.ajhg.2012.04.015"},{"key":"ref53","doi-asserted-by":"publisher","unstructured":"Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349(6246):436-440. DOI: 10.1126\/science.aaa1663","DOI":"10.1126\/science.aaa1663"},{"key":"ref54","doi-asserted-by":"publisher","unstructured":"Aspalter RM, Eibl MM, Wolf HM. Defective T-cell activation caused by impairment of the TNF receptor 2 costimulatory pathway in common variable immunodeficiency. J Allergy Clin Immunol. 2007;120(5):1193-200. DOI: 10.1016\/j.jaci.2007.07.004","DOI":"10.1016\/j.jaci.2007.07.004"},{"key":"ref55","doi-asserted-by":"publisher","unstructured":"van Zelm MC, Reisli I, van der Burg M, van Noesel CJM, van Tol MJD, Woellner C, et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med. 2006;354(18):1901-1912. DOI: 10.1056\/NEJMoa051568","DOI":"10.1056\/NEJMoa051568"},{"key":"ref56","doi-asserted-by":"publisher","unstructured":"van Zelm MC, van Dongen JJM, van der Burg M, Smet J, Adams B, Mascart F, et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest. 2010;120(4):1265-1274. DOI: 10.1172\/JCI39748","DOI":"10.1172\/JCI39748"},{"key":"ref57","doi-asserted-by":"publisher","unstructured":"Angulo I, Vadas O, Gar\u00e7on F, Banham-Hall E, Plagnol V, Leahy TR, et al. Phosphoinositide 3-kinase \u03b4 gene mutation predisposes to respiratory infection and airway damage. Science. 2013;342(6160):866-871. DOI: 10.1126\/science.1243292","DOI":"10.1126\/science.1243292"},{"key":"ref58","doi-asserted-by":"publisher","unstructured":"Deau M-C, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P, et al. A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest. 2014;124(9):3923-3928. 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DOI: 10.1038\/ni902","DOI":"10.1038\/ni902"},{"key":"ref62","doi-asserted-by":"publisher","unstructured":"Bogaert JA, Dullaers M, Lambrecht BN, Vermaelen KY, de Baere E, Haerynck F. Genes associated with common variable immunode fi ciency : one diagnosis to rule them all ? J Med Genet. 2016;53(9):575-590. DOI: 10.1136\/jmedgenet-2015-103690","DOI":"10.1136\/jmedgenet-2015-103690"},{"key":"ref63","doi-asserted-by":"publisher","unstructured":"Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012;366(4):330-338. DOI: 10.1056\/NEJMoa1102140","DOI":"10.1056\/NEJMoa1102140"},{"key":"ref64","doi-asserted-by":"publisher","unstructured":"Belot A, Kasher PR, Trotter EW, Foray AP, Debaud AL, Rice GI, et al. Protein kinase C\u03b4 deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. 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Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore). 2004;83(4):254-263. DOI: 10.1097\/01.md.0000133624.65946.40","DOI":"10.1097\/01.md.0000133624.65946.40"},{"key":"ref71","doi-asserted-by":"publisher","unstructured":"Gobert D, Bussel JB, Cunningham-Rundles C, Galicier L, Dechartres A, Berezne A, et al. Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients. Br J Haematol. 2011;155(4):498-508. DOI: 10.1111\/j.1365-2141.2011.08880.x","DOI":"10.1111\/j.1365-2141.2011.08880.x"},{"key":"ref72","doi-asserted-by":"publisher","unstructured":"Kano G, Nakatani T, Yagi K, Sakamoto I, Imamura T. Complicated pathophysiology behind rituximab-induced persistent hypogammaglobulinemia. Immunol Lett. 2014;159(1-2):76-78. DOI: 10.1016\/j.imlet.2013.10.005","DOI":"10.1016\/j.imlet.2013.10.005"},{"key":"ref73","doi-asserted-by":"publisher","unstructured":"Carrabba M, Barcellini W, Fabio G. Use of thrombopoietin-receptor agonist in CVID-associated immune thrombocytopenia. J Clin Immunol. 2016;36(5):434-436. DOI: 10.1007\/s10875-016-0282-5","DOI":"10.1007\/s10875-016-0282-5"},{"key":"ref74","doi-asserted-by":"publisher","unstructured":"Bates CA, Ellison MC, Lynch DA, Cool CD, Brown KK, Routes JM. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol. 2004;114(2):415-421. DOI: 10.1016\/j.jaci.2004.05.057","DOI":"10.1016\/j.jaci.2004.05.057"},{"key":"ref75","doi-asserted-by":"publisher","unstructured":"Uzel G, Karanovic D, Su H, Rump A, Agharahimi A, Holland SM, et al. Management of cytopenias in CTLA4 haploinsufficiency using abatacept and sirolimus. Blood. 2018;132(1):2409. 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