Palabras clave
Células B
Células T
Respuesta innata
Cómo citar
Plaudit
Resumen
La inmunodeficiencia común variable constituye el mayor grupo de inmunodeficiencias primarias sintomáticas; se caracterizan por hipogammaglobulinemia, pobre respuesta a las vacunas y susceptibilidad aumentada a las infecciones. Se han descrito fenotipos celulares y anormalidades tanto en la respuesta inmune adaptativa como en la innata. Varias de las clasificaciones se basan en los defectos encontrados en las células T y B, que se han correlacionado con las manifestaciones clínicas. En los últimos años se ha progresado significativamente en el desentrañamiento de los mecanismos genéticos que resultan en un fenotipo de inmunodeficiencia común variable. Las tecnologías de secuenciación masiva han favorecido la descripción de mutaciones en varios genes, pero solo en 2 a 10 % de los pacientes. Estos defectos monogénicos son ICOS, TNFRSF13B (TACI), TNFRS13C (BAFFR), TNRFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R, VAV1, RAC1, BLK, IKZF1 (IKAROS) y IRF2BP2. Los anteriores hallazgos han proporcionado una posible explicación para la patogénesis de la inmunodeficiencia común variable, ya que esas moléculas desempeñan un papel importante en la cooperación entre las células B y T en el centro germinal, así como en las vías de señalización intrínseca de ambas.
Referencias
Janeway CA, Apt L, Gitlin D. Agammaglobulinemia. Trans Assoc Am Physicians. 1953;66:200-202.
Salzer U, Warnatz K, Peter HH. Common variable immunodeficiency - an update. Arthritis Res Ther. 2012;14(5):223. DOI: http://dx.doi.org/10.1186/ar4032
Cunningham-Rundles C, Maglione PJ. Common variable immunodeficiency. J Allergy Clin Immunol. 2012;129(5):1425-6 e3.
Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92(1):34-48. DOI: http://dx.doi.org/10.1128/CDLI.12.7.825-832.2005
Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS. Common variable immunodeficiency: A new look at an old disease. Lancet. 2008;372(9637):489-502. DOI: http://dx.doi.org/10.1016/S0140-6736(08)61199-X
Webster AD. Clinical and immunological spectrum of common variable Immunodeficiency (IDCV). Iran J Allergy Asthma Immunol. 2004;3(3):103-113.
Warnatz K, Voll RE. Pathogenesis of autoimmunity in common variable immunodeficiency. Front Immunol. 2012;3:210. DOI: http://dx.doi.org/10.3389/fimmu.2012.00210
Podjasek JC, Abraham RS. Autoimmune cytopenias in common variable immunodeficiency. Front Immunol. 2012;3:189. DOI: http://dx.doi.org/10.3389/fimmu.2012.00189
Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E, et al. The EUROclass trial: Defining subgroups in common variable immunodeficiency. Blood. 2008;111(1):77-85. DOI: https://doi.org/10.1182/blood-2007-06-091744
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: http://dx.doi.org/10.1182/blood-2007-11-124545
Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012;119(7):1650-1657. DOI: http://dx.doi.org/10.1182/blood-2011-09-377945
Herbst EW, Armbruster M, Rump JA, Buscher HP, Peter HH. Intestinal B cell defects in common variable immunodeficiency. Clin Exp Immunol. 1994;95(2):215-221.
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. 2011;118(2):309-318. DOI: http://dx.doi.org/10.1182/blood-2010-11-321695
Taubenheim N, von Hornung M, Durandy A, Warnatz K, Corcoran L, Peter HH, et al. Defined blocks in terminal plasma cell differentiation of common variable immunodeficiency patients. J Immunol. 2005;175(8):5498-5503. DOI: https://doi.org/10.4049/jimmunol.175.8.5498
Spickett GP, Webster AD, Farrant J. Cellular abnormalities in common variable immunodeficiency. Immunodefic Rev. 1990;2(3):199-219.
Bryant A, Calver NC, Toubi E, Webster AD, Farrant J. Classification of patients with common variable immunodeficiency by B cell secretion of IgM and IgG in response to anti-IgM and interleukin-2. Clin Immunol Immunopathol. 1990;56(2):239-248.
Agematsu K, Hokibara S, Nagumo H, Komiyama A. CD27: A memory B-cell marker. Immunol Today. 2000;21(5):204-206. DOI: http://dx.doi.org/10.1016/S0167-5699(00)01605-4
Piqueras B, Lavenu-Bombled C, Galicier L, Bergeron-van der Cruyssen F, Mouthon L, Chevret S, et al. Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects. J Clin Immunol. 2003;23(5):385-400.
Warnatz K, Denz A, Drager R, Braun M, Groth C, Wolff-Vorbeck G, et al. 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: https://doi.org/10.1182/blood.V99.5.1544
Foerster C, Voelxen N, Rakhmanov M, Keller B, Gutenberger S, Goldacker S, et al. B cell receptor-mediated calcium signaling is impaired in B lymphocytes of type Ia patients with common variable immunodeficiency. J Immunol. 2010;184(12):7305-7313. DOI: http://dx.doi.org/10.4049/jimmunol.1000434
Cunningham-Rundles C, Radigan L, Knight AK, Zhang L, Bauer L, Nakazawa A. TLR9 activation is defective in common variable immune deficiency. J Immunol. 2006;176(3):1978-1987. DOI: https://doi.org/10.4049/jimmunol.176.3.1978
Yu JE, Knight AK, Radigan L, Marron TU, Zhang L, Sanchez-Ramon S, et al. Toll-like receptor 7 and 9 defects in common variable immunodeficiency. J Allergy Clin Immunol. 2009;124(2):349.e3-356.e3. DOI: http://dx.doi.org/10.1016/j.jaci.2009.05.019
Yu JE, Zhang L, Radigan L, Sanchez-Ramon S, Cunningham-Rundles C. TLR-mediated B cell defects and IFN-alpha in common variable immunodeficiency. J Clin Immunol. 2012;32(1):50-60. DOI: http://dx.doi.org/10.1007/s10875-011-9602-y. Epub 2011 Nov 3.
Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science. 2003;299(5615):2076-2079. DOI: http://dx.doi.org/10.1126/science.1081902
Abolhassani H, Cheraghi T, Rezaei N, Aghamohammadi A, Hammarstrom L. Common variable immunodeficiency or late-onset combined immunodeficiency: A new hypomorphic jak3 patient and review of the literature. J Investig Allergol Clin Immunol. 2015;25(3):218-220. Disponible en: http://www.jiaci.org/summary/vol25-issue3-num1231
Giovannetti A, Pierdominici M, Mazzetta F, Marziali M, Renzi C, Mileo AM, et al. Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J Immunol. 2007;178(6):3932-3943. DOI: https://doi.org/10.4049/jimmunol.178.6.3932
Bateman EA, Ayers L, Sadler R, Lucas M, Roberts C, Woods A, et al. T cell phenotypes in patients with common variable immunodeficiency disorders: Associations with clinical phenotypes in comparison with other groups with recurrent infections. Clin Exp Immunol. 2012;170(2):202-211. DOI: http://dx.doi.org/10.1111/j.1365-2249.2012.04643.x
Boileau J, Mouillot G, Gerard L, Carmagnat M, Rabian C, Oksenhendler E, et al. Autoimmunity in common variable immunodeficiency: Correlation with lymphocyte phenotype in the French DEFI study. J Autoimmun. 2011;36(1):25-32. DOI: http://dx.doi.org/10.1016/j.jaut.2010.10.002
Varzaneh FN, Keller B, Unger S, Aghamohammadi A, Warnatz K, Rezaei N. Cytokines in common variable immunodeficiency as signs of immune dysregulation and potential therapeutic targets - a review of the current knowledge. J Clin Immunol. 2014;34(5):524-543. DOI: http://dx.doi.org/10.1007/s10875-014-0053-0
Pastorelli G, Roncarolo MG, Touraine JL, Rousset F, Pene J, de Vries JE. Interleukin-4 suppresses immunoglobulin production by peripheral blood lymphocytes of patients with common variable immunodeficiency (CVI) induced by supernatants of T cell clones. Clin Exp Immunol. 1989;78(3):341-347. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1534808/
Ferrer JM, Iglesias J, Hernandez M, Matamoros N. Alterations in interleukin secretion (IL2 and IL-4) by CD4 and CD4 CD45RO cells from common variable immunodeficiency (CVI) patients. Clin Exp Immunol. 1995;102(2):286-289. DOI: http://dx.doi.org/10.1111/j.1365-2249.1995.tb03779.x
Fischer MB, Hauber I, Vogel E, Wolf HM, Mannhalter JW, Eibl MM. Defective interleukin-2 and interferon-gamma gene expression in response to antigen in a subgroup of patients with common variable immunodeficiency. J Allergy Clin Immunol. 1993;92(2):340-352. DOI: http://dx.doi.org/10.1016/0091-6749(93)90178-I
Hel Z, Huijbregts RP, Xu J, Nechvatalova J, Vlkova M, Litzman J. Altered serum cytokine signature in common variable immunodeficiency. J Clin Immunol. 2014;34(8):971-978. DOI: http://dx.doi.org/10.1007/s10875-014-0099-z
Kutukculer N, Azarsiz E, Aksu G, Karaca NE. CD4+CD25+Foxp3+ T regulatory cells, Th1 (CCR5, IL2, IFN-gamma) and Th2 (CCR4, IL-4, IL13) type chemokine receptors and intracellular cytokines in children with common variable immunodeficiency. Int J Immunopathol Pharmacol. 2016;29(2):241-251.
Berron-Ruiz L, Lopez-Herrera G, Vargas-Hernandez A, Santos-Argumedo L, Lopez-Macias C, Isibasi A, et al. Impaired selective cytokine production by CD4(+) T cells in common variable immunodeficiency associated with the absence of memory B cells. Clin Immunol. 2016;166-167:19-26. DOI: http://dx.doi.org/10.1016/j.clim.2016.03.013
Barbosa RR, Silva SP, Silva SL, Melo AC, Pedro E, Barbosa MP, et al. Primary B-cell deficiencies reveal a link between human IL17-producing CD4 T-cell homeostasis and B-cell differentiation. PLoS One. 2011;6(8):e22848. DOI: http://dx.doi.org/10.1371/journal.pone.0022848
Ganjalikhani-Hakemi M, Yazdani R, Sherkat R, Homayouni V, Masjedi M, Hosseini M. Evaluation of the T helper 17 cell specific genes and the innate lymphoid cells counts in the peripheral blood of patients with the common variable immunodeficiency. J Res Med Sci. 2014;19(Suppl 1):S30-S35. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078375/
Arumugakani G, Wood PM, Carter CR. Frequency of Treg cells is reduced in IDCV patients with autoimmunity and splenomegaly and is associated with expanded CD21lo B lymphocytes. J Clin Immunol. 2010;30(2):292-300. DOI: http://dx.doi.org/10.1007/s10875-009-9351-3
Melo KM, Carvalho KI, Bruno FR, Ndhlovu LC, Ballan WM, Nixon DF, et al. A decreased frequency of regulatory T cells in patients with common variable immunodeficiency. PloS One. 2009;4(7):e6269. DOI: http://dx.doi.org/10.1371/journal.pone.0006269
Yu GP, Chiang D, Song SJ, Hoyte EG, Huang J, Vanishsarn C, et al. Regulatory T cell dysfunction in subjects with common variable immunodeficiency complicated by autoimmune disease. Clin Immunol. 2009;131(2):240-253. DOI: http://dx.doi.org/10.1016/j.clim.2008.12.006
Viallard JF, Blanco P, Andre M, Etienne G, Liferman F, Neau D, et al. CD8+HLA-DR+ T lymphocytes are increased in common variable immunodeficiency patients with impaired memory B-cell differentiation. Clin Immunol. 2006;119(1):51-58.
Viallard JF, Ruiz C, Guillet M, Pellegrin JL, Moreau JF. Perturbations of the CD8(+) T-cell repertoire in IDCV patients with complications. Results Immunol. 2013;3:122-128. DOI: http://dx.doi.org/10.1016/j.rinim.2013.05.004
Liu YJ. Dendritic cell subsets and lineages, and their functions in innate and adaptive immunity. Cell. 2001;106(3):259-262. DOI: http://dx.doi.org/10.1016/S0092-8674(01)00456-1
Poeck H, Wagner M, Battiany J, Rothenfusser S, Wellisch D, Hornung V, et al. Plasmacytoid dendritic cells, antigen, and CpG-C license human B cells for plasma cell differentiation and immunoglobulin production in the absence of T-cell help. Blood. 2004;103(8):3058-3064. DOI: https://doi.org/10.1182/blood-2003-08-2972
Bayry J, Lacroix-Desmazes S, Kazatchkine MD, Galicier L, Lepelletier Y, Webster D, et al. Common variable immunodeficiency is associated with defective functions of dendritic cells. Blood. 2004;104(8):2441-2443. DOI: https://doi.org/10.1182/blood-2004-04-1325
Scott-Taylor TH, Green MR, Eren E, Webster AD. Monocyte derived dendritic cell responses in common variable immunodeficiency. Clin Exp Immunol. 2004;138(3):484-490. DOI: http://dx.doi.org/10.1111/j.1365-2249.2004.02640.x
Viallard JF, Camou F, Andre M, Liferman F, Moreau JF, Pellegrin JL, et al. Altered dendritic cell distribution in patients with common variable immunodeficiency. Arthritis Res Ther. 2005;7(5):R1052-R1055. DOI: http://dx.doi.org/10.1186/ar1774
Cunningham-Rundles C, Radigan L. Deficient IL12 and dendritic cell function in common variable immune deficiency. Clin Immunol. 2005;115(2):147-153. DOI: http://dx.doi.org/10.1016/j.clim.2004.12.007
Cambronero R, Sewell WA, North ME, Webster AD, Farrant J. Up-regulation of IL12 in monocytes: a fundamental defect in common variable immunodeficiency. J Immunol. 2000;164(1):488-494. DOI: https://doi.org/10.4049/jimmunol.164.1.488
Aspalter RM, Sewell WA, Dolman K, Farrant J, Webster AD. Deficiency in circulating natural killer (NK) cell subsets in common variable immunodeficiency and X-linked agammaglobulinaemia. Clin Exp Immunol. 2000;121(3):506-514. DOI: 10.1046/j.1365-2249.2000.01317.x
Day N, Tangsinmankong N, Ochs H, Rucker R, Picard C, Casanova JL, et al. Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses. J Pediatr. 2004;144(4):524-526. DOI: http://dx.doi.org/10.1016/j.jpeds.2003.11.025
Yong PF, Thaventhiran JE, Grimbacher B. “A rose is a rose is a rose,” but IDCV is Not IDCV common variable immune deficiency (IDCV), what do we know in 2011? Adv Immunol. 2011;111:47-107.
Olerup O, Smith CI, Bjorkander J, Hammarstrom L. Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency. Proc Natl Acad Sci U S A. 1992;89(22):10653-10657. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC50399/
Volanakis JE, Zhu ZB, Schaffer FM, Macon KJ, Palermos J, Barger BO, et al. Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. J Clin invest. 1992;89(6):1914-1922. DOI: http://dx.doi.org/10.1172/JCI115797
Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Drager R, et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol. 2003;4(3):261-268. DOI: http://dx.doi.org/10.1038/ni902
Salzer U, Chapel HM, Webster AD, Pan-Hammarstrom Q, Schmitt-Graeff A, Schlesier M, et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 2005;37(8):820-828. DOI: http://dx.doi.org/10.1038/ng1600
Warnatz K, Salzer U, Rizzi M, Fischer B, Gutenberger S, Bohm J, et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A. 2009;106(33):13945-13950. DOI: http://dx.doi.org/10.1073/pnas.0903543106
van Zelm MC, Reisli I, van der Burg M, Castano D, van Noesel CJ, van Tol MJ, et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med. 2006;354(18):1901-1912. DOI: http://dx.doi.org/10.1056/NEJMoa051568
Kuijpers TW, Bende RJ, Baars PA, Grummels A, Derks IA, Dolman KM, et al. CD20 deficiency in humans results in impaired T cell-independent antibody responses. J Clin Invest. 2010;120(1):214-222. DOI: http://dx.doi.org/10.1172/JCI40231
Thiel J, Kimmig L, Salzer U, Grudzien M, Lebrecht D, Hagena T, et al. Genetic CD21 deficiency is associated with hypogammaglobulinemia. J Allergy Clin Immunol. 2012;129(3):801.e6-810.e6. DOI: http://dx.doi.org/10.1016/j.jaci.2011.09.027.
van Montfrans JM, Hoepelman AI, Otto S, van Gijn M, van de Corput L, de Weger RA, et al. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin Immunol. 2012;129(3):787.e6-793.e6. DOI: http://dx.doi.org/10.1016/j.jaci.2011.11.013
van Zelm MC, Smet J, Adams B, Mascart F, Schandene L, Janssen 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: http://dx.doi.org/10.1172/JCI39748
Salzer E, Santos-Valente E, Klaver S, Ban SA, Emminger W, Prengemann NK, et al. B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C delta. Blood. 2013;121(16):3112-3116. DOI: http://dx.doi.org/10.1182/blood-2012-10-460741
Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, Herholz P, Trujillo-Vargas CM, Phadwal K, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90(6):986-1001. DOI: http://dx.doi.org/10.1016/j.ajhg.2012.04.015
Alkhairy OK, Rezaei N, Graham RR, Abolhassani H, Borte S, Hultenby K, et al. RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency. J Allergy Clin Immunol. 2015;135(5):1380-4 e1-5. DOI: http://dx.doi.org/10.1016/j.jaci.2014.10.039
Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014;345(6204):1623-1627. DOI: http://dx.doi.org/10.1126/science.1255904
Wang HY, Ma CA, Zhao Y, Fan X, Zhou Q, Edmonds P, et al. Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK. Proc Natl Acad Sci U S A. 2013;110(13):5127-5132. DOI: http://dx.doi.org/10.1073/pnas.1221211110
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
Deau MC, 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. DOI: http://dx.doi.org/10.1172/JCI75746
Angulo I, Vadas O, Garcon F, Banham-Hall E, Plagnol V, Leahy TR, et al. Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage. Science. 2013;342(6160):866-871. DOI: http://dx.doi.org/10.1126/science.1243292
Chen K, Coonrod EM, Kumanovics A, Franks ZF, Durtschi JD, Margraf RL, et al. Germline mutations in NFKB2 implicate the noncanonical NF-kappaB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet. 2013;93(5):812-24. DOI: http://dx.doi.org/10.1016/j.ajhg.2013.09.009
Fliegauf M, Bryant VL, Frede N, Slade C, Woon ST, Lehnert K, et al. Haploinsufficiency of the NF-kappaB1 subunit p50 in common variable immunodeficiency. Am J Hum Genet. 2015;97(3):389-403. DOI: http://dx.doi.org/10.1016/j.ajhg.2015.07.008
Capitani N, Ariani F, Amedei A, Pezzicoli A, Matucci A, Vultaggio A, et al. Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function. Int J Immunopathol Pharmacol. 2012;25(3):811-817.
Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, et al. Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. N Engl J Med. 2016;374(11):1032-1043. DOI: 10.1056/NEJMoa1512234
Compeer EB, Janssen W, van Royen-Kerkhof A, van Gijn M, van Montfrans JM, Boes M. Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help. Oncotarget. 2015;6(13):10759-10771. DOI: 10.18632/oncotarget.3577
Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, et al. Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. J Allergy Clin immunol. 2016;138(2):544-50 e4.
Conley ME, Casanova JL. Discovery of single-gene inborn errors of immunity by next generation sequencing. Curr Opin Immunol. 2014;30:17-23.
Rickert RC, Jellusova J, Miletic AV. Signaling by the tumor necrosis factor receptor superfamily in B-cell biology and disease. Immunol Rev. 2011;244(1):115-133. DOI: http://dx.doi.org/10.1111/j.1600-065X.2011.01067.x
Martinez-Gallo M, Radigan L, Almejun MB, Martinez-Pomar N, Matamoros N, Cunningham-Rundles C. TACI mutations and impaired B-cell function in subjects with IDCV and healthy heterozygotes. J Allergy Clin Immunol. 2013;131(2):468-476. DOI: http://dx.doi.org/10.1016/j.jaci.2012.10.029
Levy S, Todd SC, Maecker HT. CD81 (TAPA-1): A molecule involved in signal transduction and cell adhesion in the immune system. Annu Rev Immunol. 1998;16:89-109.
Uchida J, Lee Y, Hasegawa M, Liang Y, Bradney A, Oliver JA, et al. Mouse CD20 expression and function. International immunology. 2004;16(1):119-129. DOI: http://dx.doi.org/10.1093/intimm/dxh009
Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, et al. Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. J Allergy Clin Immunol. 2015;136(3):703.e10-712.e10. DOI: http://dx.doi.org/10.1016/j.jaci.2015.02.022
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: http://dx.doi.org/10.1038/nm.3746
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al. Autoimmune disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349(6246):436-440. DOI: http://dx.doi.org/10.1126/science.aaa1663
Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F. Genes associated with common variable immunodeficiency: One diagnosis to rule them all? J Med Genet . 2016;53(9):575-590. DOI: http://dx.doi.org/10.1136/jmedgenet-2015-103690
Kurosaki T. Regulation of BCR signaling. Mol Immunol. 2011;48(11):1287-1291. DOI: http://dx.doi.org/10.1016/j.molimm.2010.12.007
Guzman D, Veit D, Knerr V, Kindle G, Gathmann B, Eades-Perner AM, et al. The ESID Online Database network. Bioinformatics. 2007;23(5):654-655. DOI: http://dx.doi.org/10.1093/bioinformatics/btl675
Condino-Neto A. The relevance of collaborative work: the Latin American Society for Immunodeficiencies (LASID) registry model. Clin Exp Immunol. 2014;178 Suppl 1:16-17. DOI: http://dx.doi.org/10.1111/cei.12495
Sullivan KE, Puck JM, Notarangelo LD, Fuleihan R, Caulder T, Wang C, et al. USIDNET: A strategy to build a community of clinical immunologists. J Clin Immunol. 2014;34(4):428-435. DOI: http://dx.doi.org/10.1007/s10875-014-0028-1
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