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Referencias:

• Cunningham-Rundles, C., Bodian, C., Common variable immunodeficiency: clinical and immunological features of 248 patients (1999) Clin Immunol, 92 (1), pp. 34-48. , COI: 1:STN:280:DyaK1Mzktl2nuw%3D%3D, PID: 10413651
• Wehr, C., Kivioja, T., Schmitt, C., Ferry, B., Witte, T., Eren, E., The EUROclass trial: defining subgroups in common variable immunodeficiency (2008) Blood, 111 (1), pp. 77-85. , COI: 1:CAS:528:DC%2BD1cXjtVGkug%3D%3D, PID: 17898316
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• Cunningham-Rundles, C., Maglione, P.J., Common variable immunodeficiency (2012) J Allergy Clin Immunol, 129 (5), pp. 1425-1426. , PID: 22541363, e3
• Gathmann, B., Grimbacher, B., Beaute, J., Dudoit, Y., Mahlaoui, N., Fischer, A., The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008 (2009) Clin Exp Immunol, 157, pp. 3-11. , PID: 19630863
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• Yong, P.F., Thaventhiran, J.E., 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? (2011) Adv Immunol, 111, pp. 47-107. , COI: 1:CAS:528:DC%2BC3MXhsFWhsL3L, PID: 21970952
• Mellemkjaer, L., Hammarstrom, L., Andersen, V., Yuen, J., Heilmann, C., Barington, T., Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study (2002) Clin Exp Immunol, 130 (3), pp. 495-500. , COI: 1:STN:280:DC%2BD38jis1Gktg%3D%3D, PID: 12452841
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• Ballow, M., Managing comorbid complications in patients with common variable immunodeficiency (2013) Annals of allergy, asthma & immunology: official publication of the American College of Allergy, Asthma, & Immunology, 111, pp. S6-S9
• Busse, P.J., Razvi, S., Cunningham-Rundles, C., Efficacy of intravenous immunoglobulin in the prevention of pneumonia in patients with common variable immunodeficiency (2002) J Allergy Clin Immunol, 109 (6), pp. 1001-1004. , COI: 1:CAS:528:DC%2BD38XlsVajs7s%3D, PID: 12063531
• Chapel, H., Cunningham-Rundles, C., Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions (2009) Br J Haematol, 145 (6), pp. 709-727. , COI: 1:CAS:528:DC%2BD1MXosVart7k%3D, PID: 19344423
• Sneller, M.C., Common variable immunodeficiency (2001) Am J Med Sci, 321 (1), pp. 42-48. , COI: 1:STN:280:DC%2BD3M7hvVyqtw%3D%3D, PID: 11202479
• Levy, Y., Gupta, N., Le Deist, F., Garcia, C., Fischer, A., Weill, J.C., Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome (1998) Proc Natl Acad Sci U S A, 95 (22), pp. 13135-13140. , COI: 1:CAS:528:DyaK1cXntFWku7k%3D, PID: 9789054, This was the first group who evaluated the quality of Ab production by studying the SHM pattern in CVID patients and found that two out of six CVID patients presented a large proportion of circulating IgG memory B cells harboring germline VH genes
• Muramatsu, M., Kinoshita, K., Fagarasan, S., Yamada, S., Shinkai, Y., Honjo, T., Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme (2000) Cell, 102 (5), pp. 553-563. , COI: 1:CAS:528:DC%2BD3cXmsFWit7g%3D, PID: 11007474
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• Weller, S., Braun, M.C., Tan, B.K., Rosenwald, A., Cordier, C., Conley, M.E., Human blood IgM “memory” B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire (2004) Blood, 104 (12), pp. 3647-3654. , COI: 1:CAS:528:DC%2BD2cXhtVGltbzM, PID: 15191950
• Odegard, V.H., Schatz, D.G., Targeting of somatic hypermutation (2006) Nat Rev Immunol, 6 (8), pp. 573-583. , COI: 1:CAS:528:DC%2BD28Xnt1yisLc%3D, PID: 16868548
• Stavnezer, J., Guikema, J.E., Schrader, C.E., Mechanism and regulation of class switch recombination (2008) Annu Rev Immunol, 26, pp. 261-292. , COI: 1:CAS:528:DC%2BD1cXltlWksbs%3D, PID: 18370922
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• Kuraoka, M., Schmidt, A.G., Nojima, T., Feng, F., Watanabe, A., Kitamura, D., Complex antigens drive permissive clonal selection in germinal centers (2016) Immunity, 44 (3), pp. 542-552. , COI: 1:CAS:528:DC%2BC28Xjs1eksLg%3D, PID: 26948373
• Bonhomme, D., Hammarstrom, L., Webster, D., Chapel, H., Hermine, O., Le Deist, F., Impaired antibody affinity maturation process characterizes a subset of patients with common variable immunodeficiency (2000) J Immunol, 165 (8), pp. 4725-4730. , COI: 1:CAS:528:DC%2BD3cXnslWnsbg%3D, PID: 11035117
• Agematsu, K., Futatani, T., Hokibara, S., Kobayashi, N., Takamoto, M., Tsukada, S., Absence of memory B cells in patients with common variable immunodeficiency (2002) Clin Immunol, 103 (1), pp. 34-42. , COI: 1:CAS:528:DC%2BD38XktFCqtro%3D, PID: 11987983
• Andersen, P., Permin, H., Andersen, V., Schejbel, L., Garred, P., Svejgaard, A., Deficiency of somatic hypermutation of the antibody light chain is associated with increased frequency of severe respiratory tract infection in common variable immunodeficiency (2005) Blood, 105 (2), pp. 511-517. , COI: 1:CAS:528:DC%2BD2MXltlGisQ%3D%3D, PID: 15367430, This was the first group who propose a better predictor of a qualitative immunodeficiency than the analysis of mutations on isotype-switched IgV heavy genes by measuring SHM in κ light chain. Since 2005 most studies have used this method called IgκREHMA to evaluate SHM defects
• Schejbel, L., Marquart, H., Andersen, V., Permin, H., Andersen, P., Svejgaard, A., Deficiency of somatic hypermutation of immunoglobulin G transcripts is a better predictor of severe respiratory tract infections than lack of memory B cells in common variable immunodeficiency (2005) J Clin Immunol, 25 (4), pp. 392-403. , COI: 1:CAS:528:DC%2BD2MXos1Gjurw%3D, PID: 16133996, This group performed a combined study of memory B cell populations and SHM by extending the method developed by Andersen et al. to IgH, in order to discern whether the lack of quantity or of quality has more influence on the course of the disease
• Ballegaard, V., Permin, H., Katzenstein, T.L., Marquart, H.V., Schejbel, L., Long-term follow-up on affinity maturation and memory B-cell generation in patients with common variable immunodeficiency (2013) J Clin Immunol, 33 (6), pp. 1067-1077. , COI: 1:CAS:528:DC%2BC3sXhtV2rsr3F, PID: 23649616, This group measured both switched B cell and SHM in a cohort of 33 CVID patients, with an objective to find the best clinical progtic marker with stability over the time. They conclude that SHM measured result a more stable parameter than the class switched B cell. They also compare the SHM status with the clinical manifestation and do not find a correlation between the non-infection complications and the SHM status measured in the first sample
• Duvvuri, B., Duvvuri, V.R., Grigull, J., Martin, A., Pan-Hammarstrom, Q., Wu, G.E., Altered spectrum of somatic hypermutation in common variable immunodeficiency disease characteristic of defective repair of mutations (2011) Immunogenetics, 63 (1), pp. 1-11. , PID: 20938659
• Driessen, G.J., van Zelm, M.C., van Hagen, P.M., Hartwig, N.G., Trip, M., Warris, A., B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency (2011) Blood, 118 (26), pp. 6814-6823. , COI: 1:CAS:528:DC%2BC38Xjt1ClsQ%3D%3D, PID: 22042693
• Almejun, M.B., Campos, B.C., Patino, V., Galicchio, M., Zelazko, M., Oleastro, M., Noninfectious complications in patients with pediatric-onset common variable immunodeficiency correlated with defects in somatic hypermutation but not in class-switch recombination (2017) J Allergy Clin Immunol, 139 (3), pp. 913-922. , COI: 1:CAS:528:DC%2BC28XhvVKgtbfF, PID: 27713077, They study the qualitative aspects of the antibodies produced in 25 pediatric CVID patients by the measurement of SHM and different CSR steps. Their result showed that almost all patients with CVID had altered SHM of the antibody light chain. They found a significant association between patients with severe defect in SHM and the presence of non-infectious complications and do not found any association between clinical complications and the microhomology usage at switch junction in CSR process in vivo, and also with the ability to trigger CSR events in vitro by T-dependent stimuli
• Weller, S., Faili, A., Aoufouchi, S., Gueranger, Q., Braun, M., Reynaud, C.A., Hypermutation in human B cells in vivo and in vitro (2003) Ann N Y Acad Sci, 987, pp. 158-165. , COI: 1:CAS:528:DC%2BD3sXksFSls7c%3D, PID: 12727635
• Weber, J.C., Blaison, G., Martin, T., Knapp, A.M., Pasquali, J.L., Evidence that the V kappa III gene usage is nonstochastic in both adult and newborn peripheral B cells and that peripheral CD5+ adult B cells are oligoclonal (1994) J Clin Invest, 93 (5), pp. 2093-2105. , COI: 1:CAS:528:DyaK2cXkt1yhtrg%3D, PID: 7514192
• Foster, S.J., Brezinschek, H.P., Brezinschek, R.I., Lipsky, P.E., Molecular mechanisms and selective influences that shape the kappa gene repertoire of IgM+ B cells (1997) J Clin Invest, 99 (7), pp. 1614-1627. , COI: 1:CAS:528:DyaK2sXitlantb8%3D, PID: 9120005
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• Warnatz, K., Denz, A., Drager, R., Braun, M., Groth, C., Wolff-Vorbeck, G., 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 (2002) Blood, 99 (5), pp. 1544-1551. , COI: 1:CAS:528:DC%2BD38XhvFyqtL4%3D, PID: 11861266
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• Funauchi, M., Farrant, J., Moreno, C., Webster, A.D., Defects in antigen-driven lymphocyte responses in common variable immunodeficiency (CVID) are due to a reduction in the number of antigen-specific CD4+ T cells (1995) Clin Exp Immunol, 101 (1), pp. 82-88. , COI: 1:CAS:528:DyaK2MXnsF2kuro%3D, PID: 7621598
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• Fischer, M.B., Hauber, I., Eggenbauer, H., Thon, V., Vogel, E., Schaffer, E., A defect in the early phase of T-cell receptor-mediated T-cell activation in patients with common variable immunodeficiency (1994) Blood, 84 (12), pp. 4234-4241. , COI: 1:CAS:528:DyaK2MXislShtL8%3D, PID: 7994037
• Rezaei, N., Aghamohammadi, A., Nourizadeh, M., Kardar, G.A., Pourpak, Z., Zare, A., Cytokine production by activated T cells in common variable immunodeficiency (2010) J Investig Allergol Clin Immunol, 20 (3), pp. 244-251. , COI: 1:CAS:528:DC%2BC3cXovFCrur8%3D, PID: 20635790
• Arumugakani, G., Wood, P.M., Carter, C.R., Frequency of Treg cells is reduced in CVID patients with autoimmunity and splenomegaly and is associated with expanded CD21lo B lymphocytes (2010) J Clin Immunol, 30 (2), pp. 292-300. , COI: 1:CAS:528:DC%2BC3cXjs1ejsr8%3D, PID: 19997968
• Ferrari, S., Giliani, S., Insalaco, A., Al-Ghonaium, A., Soresina, A.R., Loubser, M., Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM (2001) Proc Natl Acad Sci U S A, 98 (22), pp. 12614-12619. , COI: 1:CAS:528:DC%2BD3MXotFaiurY%3D, PID: 11675497
• Korthauer, U., Graf, D., Mages, H.W., Briere, F., Padayachee, M., Malcolm, S., Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM (1993) Nature, 361 (6412), pp. 539-541. , COI: 1:STN:280:DyaK3s7ls1yguw%3D%3D, PID: 7679206
• Durandy, A., Kracker, S., Immunoglobulin class-switch recombination deficiencies (2012) Arthritis research & therapy, 14 (4), p. 218. , COI: 1:CAS:528:DC%2BC38XhtlGksrbF
• Peron, S., Pan-Hammarstrom, Q., Imai, K., Du, L., Taubenheim, N., Sanal, O., A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair (2007) J Exp Med, 204 (5), pp. 1207-1216. , COI: 1:CAS:528:DC%2BD2sXlsFSjt7o%3D, PID: 17485519
• Revy, P., Muto, T., Levy, Y., Geissmann, F., Plebani, A., Sanal, O., Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2) (2000) Cell, 102 (5), pp. 565-575. , COI: 1:CAS:528:DC%2BD3cXmsFWit7k%3D, PID: 11007475
• Imai, K., Catalan, N., Plebani, A., Marodi, L., Sanal, O., Kumaki, S., Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination (2003) J Clin Invest, 112 (1), pp. 136-142. , COI: 1:CAS:528:DC%2BD3sXlt1KrtLo%3D, PID: 12840068

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