409
Views
18
CrossRef citations to date
0
Altmetric
Reviews

Evaluation of Known Defective Signaling-Associated Molecules in Patients Who Primarily Diagnosed as Common Variable Immunodeficiency

, , , , &
Pages 7-24 | Accepted 22 Dec 2015, Published online: 09 Mar 2016

REFERENCES

  • Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999;92:34–48.
  • Gathmann B, Mahlaoui N, Gérard L, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol 2014;134:116–126.
  • Aghamohammadi A, Abolhassani H, Moazzami K, et al. Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults. J Investig Allergol Clin Immunol 2010;20:372–379.
  • Aghamohammadi A, Farhoudi A, Moin M, et al. Clinical and immunological features of 65 Iranian patients with common variable immunodeficiency. Clin Diagn Lab Immunol 2005;12:825–832.
  • Abolhassani H, Amirkashani D, Parvaneh N, et al. Autoimmune phenotype in patients with common variable immunodeficiency. J Investig Allergol Clin Immunol 2013;23:323–329.
  • Aghamohammadi A, Parvaneh N, Rezaei N. Common variable immunodeficiency: a heterogeneous group needs further subclassification. Expert Rev Clin Immunol 2009;5:629–631.
  • Abolhassani H, Sagvand BT, Shokuhfar T, et al. A review on guidelines for management and treatment of common variable immunodeficiency. Expert Rev Clin Immunol 2013;9:561–574.
  • Seppänen M, Aghamohammadi A, Rezaei N. Is there a need to redefine the diagnostic criteria for common variable immunodeficiency? Expert Rev Clin Immunol 2014;10:1–5.
  • Rezaei N, Aghamohammadi A, Kardar GA, et al. T- helper 1 and 2 cytokine assay in patients with common variable immunodeficiency. J Investig Allergol Clin Immunol 2008;18:449–453.
  • Ganjalikhani-Hakemi M, Yazdani R, Sherkat R, et al. 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:S30–S35.
  • Yazdani R, Hakemi MG, Sherkat R, et al. Genetic defects and the role of helper T-cells in the pathogenesis of common variable immunodeficiency. Adv Biomed Res 2014;9:2.
  • Rezaei N, Aghamohammadi A, Mahmoudi M, et al. Association of IL-4 and IL-10 gene promoter polymorphisms with common variable immunodeficiency. Immunobiology 2010;215(1):81–87. Epub 2009/03/03.
  • Rezaei N, Aghamohammadi A, Nourizadeh M, et al. Cytokine production by activated T cells in common variable immunodeficiency. J Investig Allergol Clin Immunol 2010;20(3):244–251. Epub 2010/07/20.
  • Rezaei N, Aghamohammadi A, Read RC. Response to polysaccharide vaccination amongst pediatric patients with common variable immunodeficiency correlates with clinical disease. Iran J Allergy Asthma Immunol 2008;7(4):231–234. Epub 2008/12/05.
  • Rezaei N, Aghamohammadi A, Shakiba Y, et al. Cytokine gene polymorphisms in common variable immunodeficiency. Int Arch Allerg Immunol 2009;150(1):1–7. Epub 2009/04/03.
  • Rezaei N, Amirzargar AA, Shakiba Y, et al. Proinflammatory cytokine gene single nucleotide polymorphisms in common variable immunodeficiency. Clin Exp Immunol 2009;155(1):21–27. Epub 2008/12/17.
  • Rezaei N, Siadat SD, Aghamohammadi A, et al. Serum bactericidal antibody response 1 year after meningococcal polysaccharide vaccination of patients with common variable immunodeficiency. Clin Vaccine Immunol 2010;17(4):524–528. Epub 2010/01/29.
  • Rezaei N, Wing JB, Aghamohammadi A, et al. B-cell-T-cell activation and interaction in common variable immunodeficiency. Human Immunol 2010;71(4):355–362. Epub 2010/01/26.
  • Cunningham-Rundles C. Human B cell defects in perspective. Immunol Res 2012;54:227–232.
  • Grimbacher B, Hutloff A, Schlesier M, et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 2003;4:261–268.
  • van Zelm MC, Reisli I, van der Burg M, et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med 2006;354:1901–1912.
  • Kuijpers TW, Bende RJ, Baars PA, et al. CD20 deficiency in humans results in impaired T cell–independent antibody responses. J Clin Invest 2010;120:214.
  • Thiel J, Kimmig L, Salzer U, et al. Genetic CD21 deficiency is associated with hypogammaglobulinemia. J Allergy Clin Immunol 2012;129:801–810. e6.
  • Lopez-Herrera G, Tampella G, Pan-Hammarström Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet 2012;90:986–1001.
  • van Zelm MC, Smet J, Adams B, et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest 2010;120:1265.
  • Warnatz K, Salzer U, Rizzi M, et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci USA 2009;106:13945–13950.
  • Thon V, Wolf H, Sasgary M, et al. Defective integration of activating signals derived from the T cell receptor (TCR) and costimulatory molecules in both CD4 +and CD8+ T lymphocytes of common variable immunodeficiency (CVID) patients. Clin Exp Immunol 1997;110:174–181.
  • Yu JE, Knight AK, Radigan L, et al. Toll-like receptor 7 and 9 defects in common variable immunodeficiency. J Allergy Clin Immunol 2009;124:349–356. e3.
  • van der Heijden J, Geissler J, van Mirre E, et al. A novel splice variant of FcγRIIa: a risk factor for anaphylaxis in patients with hypogammaglobulinemia. J Allergy Clin Immunol 2013;131: 1408–1416. e5.
  • Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2014;5:162.
  • Sideman S. Preface: cardiac control pathways: signaling and transport phenomena. Ann N Y Acad Sci 2008;1123:xx–xli.
  • Dubyak GR. Ion homeostasis, channels, and transporters: an update on cellular mechanisms. Adv Physiol Educ 2004;28:143–154.
  • Zhong Y, Byrd JC, Dubovsky JA. The B-cell receptor pathway: a critical component of healthy and malignant immune biology. Semin Hematol 2014;51:206–218.
  • Schwartz R, Porat YB-A, Handzel Z, et al. Identification of a subset of common variable immunodeficiency patients with impaired B-cell protein tyrosine phosphorylation. Clin Diagn Lab Immunol 1999;6:856–860.
  • Huse M. The T-cell-receptor signaling network. J Cell Sci 2009;122:1269–1273.
  • Fischer MB, Hauber I, Eggenbauer H, et al. A defect in the early phase of T-cell receptor-mediated T-cell activation in patients with common variable immunodeficiency. Blood 1994;84:4234–4241.
  • Fischer MB, Wolf HM, Hauber I, et al. Activation via the antigen receptor is impaired in T cells, but not in B cells from patients with common variable immunodeficiency. Eur J Immunol 1996;26:231–237.
  • Majolini MB, D'Elios MM, Boncristiano M, et al. Uncoupling of T-cell antigen receptor and downstream protein tyrosine kinases in common variable immunodeficiency. Clin Immunol Immunopathol 1997;84:98–102.
  • Aalaei-andabili SH, Rezaei N. Toll like receptor (TLR)-induced differential expression of microRNAs (MiRs) promotes proper immune response against infections: a systematic review. J Infect 2013;67(4):251–264. Epub 2013/07/16.
  • Hedayat M, Takeda K, Rezaei N. Prophylactic and therapeutic implications of toll-like receptor ligands. Med Res Rev 2012;32(2):294–325. Epub 2012/03/03.
  • Moossavi S, Rezaei N. Toll-like receptor expression pattern: clinical application. J Clin Immunol 2012;32(6):1421–1422. Epub 2012/06/20.
  • Shigeoka AA, Holscher TD, King AJ, et al. TLR2 is constitutively expressed within the kidney and participates in ischemic renal injury through both MyD88-dependent and-independent pathways. J Immunol 2007;178:6252–6258.
  • Yamamoto M, Sato S, Hemmi H, et al. TRAM is specifically involved in the toll-like receptor 4–mediated MyD88-independent signaling pathway. Nat Immunol 2003;4:1144–1150.
  • Yamamoto M, Sato S, Hemmi H, et al. Essential role for TIRAP in activation of the signalling cascade shared by TLR2 and TLR4. Nature 2002;420:324–329.
  • Bao M, Liu Y-J. Regulation of TLR7/9 signaling in plasmacytoid dendritic cells. Protein Cell 2013;4:40–52.
  • Bernasconi NL, Onai N, Lanzavecchia A. A role for toll-like receptors in acquired immunity: up-regulation of TLR9 by BCR triggering in naive B cells and constitutive expression in memory B cells. Blood 2003;101:4500–4504.
  • Cunningham-Rundles C, Radigan L, Knight AK, et al. TLR9 activation is defective in common variable immune deficiency. J Immunol 2006;176:1978–1987.
  • Escobar D, Pons J, Clemente A, et al. Defective B cell response to TLR9 ligand (CpG-ODN), Streptococcus pneumoniae and Haemophilus influenzae extracts in common variable immunodeficiency patients. Cell Immunol 2010;262:105–111.
  • Yu JE, Zhang L, Radigan L, et al. C C-R. TLR-mediated B cell defects and IFN-α in common variable immunodeficiency. J Clin Immunol 2012;32:50–60.
  • Capolunghi F, Cascioli S, Giorda E, et al. CpG drives human transitional B cells to terminal differentiation and production of natural antibodies. J Immunol 2008;180:800–808.
  • Plebani A, Lougaris V, Soresina A, et al. A novel immunodeficiency characterized by the exclusive presence of transitional B cells unresponsive to CpG. Immunology 2007;121:183–188.
  • Carsetti R, Rosado MM, Donnanno S, et al. The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiency. J Allergy Clin Immunol 2005;115:412–417.
  • Giardino G, Cirillo E, Gallo V, et al. B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand. Clin Immunol 2015;161:131–135.
  • Romberg N, Chamberlain N, Saadoun D, et al. CVID-associated TACI mutations affect autoreactive B cell selection and activation. J Clin Invest 2013;123:4283.
  • He B, Santamaria R, Xu W, et al. The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat Immunol 2010;11:836–845.
  • Van Sorge N, Van Der Pol WL, Van de Winkel J. FcγR polymorphisms: implications for function, disease susceptibility and immunotherapy. Tissue Antigens 2003;61:189–202.
  • Van den Herik-Oudijk IE, Capel P, van der Bruggen T, et al. Identification of signaling motifs within human Fc gamma RIIa and Fc gamma RIIb isoforms. Blood 1995;85:2202–2211.
  • Flinsenberg TW, Janssen WJ, Herczenik E, et al. A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling. Clin Immunol 2014;155:108–117.
  • Rosales C, Uribe-Querol E. Fc receptors: cell activators of antibody functions. Adv Biosci Biotechnol 2013;4:21–33
  • Yong PF, Thaventhiran JE, 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.
  • Hasegawa M, Fujimoto M, Poe JC, et al. CD19 can regulate B lymphocyte signal transduction independent of complement activation. J Immunol 2001;167:3190–3200.
  • Carter RH, Fearon DT. CD19: lowering the threshold for antigen receptor stimulation of B lymphocytes. Science 1992;256:105–107.
  • Pieper K, Grimbacher B, Eibel H. B-cell biology and development. J Allergy Clin Immunol 2013;131:959–971.
  • Castigli E, Wilson SA, Scott S, et al. TACI and BAFF-R mediate isotype switching in B cells. J Exp Med 2005;201:35–39.
  • Salzer U, Bacchelli C, Buckridge S, et al. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. Blood 2009;113:1967–1976.
  • Groth C, Dräger R, Warnatz K, et al. Impaired up-regulation of CD70 and CD86 in naive (CD27−) B cells from patients with common variable immunodeficiency (CVID). Clin Exp Immunol 2002;129:133–139.
  • Denz A, Eibel H, Illges H, et al. Impaired up-regulation of CD86 in B cells of “type A” common variable immunodeficiency patients. Eur J Immunol 2000;30:1069–1077.
  • Farrington M, Grosmaire LS, Nonoyama S, et al. CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. Proc Natl Acad Sci USA 1994;91:1099–1103.
  • Salzer E, Kansu A, Sic H, et al. Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency. J Allergy Clin Immunol 2014;133:1651–1659. e12.
  • Kotlarz D, Zietara N, Milner JD, et al. Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency. Curr Opin Pediatr 2014;26:704–712.
  • Carter CR, Aravind G, Smalle NL, et al. CVID patients with autoimmunity have elevated T cell expression of granzyme B and HLA-DR and reduced levels of Treg cells. J Clin Pathol 2013;66: 146–150.
  • Arandi N, Mirshafiey A, Abolhassani H, et al. Frequency and expression of inhibitory markers of CD4+ CD25+ FOXP3+ regulatory T cells in patients with common variable immunodeficiency. Scand J Immunol 2013;77:405–412.
  • Kutukculer N, Azarsiz E, Karaca NE, et al. A clinical and laboratory approach to the evaluation of innate immunity in pediatric CVID patients. Front Immunol 2015;6:145.
  • Kutukculer N, Gulez N, Karaca NE, et al. Three different classifications, B lymphocyte subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms in Turkish patients with common variable immunodeficiency. J Clin Immunol 2012;32:1165–1179.
  • Haimila K, Einarsdottir E, De Kauwe A, et al. The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. Genes Immun 2009;10:151–161.
  • Gough SC, Walker LS, Sansom DM. CTLA4 gene polymorphism and autoimmunity. Immunol Rev 2005;204:102–115.
  • Brownlie RJ, Zamoyska R. T cell receptor signalling networks: branched, diversified and bounded. Nat Rev Immunol. 2013(4):257–269.
  • Isakov N, Biesinger B. Lck protein tyrosine kinase is a key regulator of T-cell activation and a target for signal intervention by Herpesvirus saimiri and other viral gene products. Eur J Biochem 2000;267:3413–3421.
  • Sawabe T, Horiuchi T, Nakamura M, et al. Defect of lck in a patient with common variable immunodeficiency. Int J Mol Med 2001;7:609–614.
  • Paccani SR, Boncristiano M, Patrussi L, et al. Defective Vav expression and impaired F-actin reorganization in a subset of patients with common variable immunodeficiency characterized by T-cell defects. Blood 2005;106:626–634.
  • Boncristiano M, Majolini MB, D'Elios MM, et al. Defective recruitment and activation of ZAP‐70 in common variable immunodeficiency patients with T cell defects. Eur J Immunol 2000;30:2632–2638.
  • Kitamura M, Nishimoto H, Aoki K, et al. Molecular recognition of inositol 1,4,5-trisphosphate and model compounds in aqueous solution by ditopic Zn(2+) complexes containing chiral linkers. Inorg Chem 2010;49:5316–5327.
  • Hui Jun X, Guang Y. Inositol 1, 4, 5-trisphosphate 3-kinases: functions and regulations. Cell Res 2005;15:83–91.
  • O'Flynn K, Krensky AM, Beverley PC, et al. Phytohaemagglutinin activation of T cells through the sheep red blood cell receptor. Nature 1985;313:686–687.
  • Pin-Ian L. Changes of intracellular IP3 with the expression of interleukin 2 receptor in human peripheral blood T lymphocytes. J Tongji Med Univ 1991;11:88–92.
  • Fischer K, Kong Y, Nishina H, et al. Vav is a regulator of cytoskeletal reorganization mediated by the T-cell receptor. Curr Biol 1998;8:554–S3.
  • Bustelo XR. Regulatory and signaling properties of the Vav family. Mol Cell Biol 2000;20:1461–1477.
  • Wülfing C, Bauch A, Crabtree GR, et al. The vav exchange factor is an essential regulator in actin-dependent receptor translocation to the lymphocyte–antigen-presenting cell interface. Proc Natl Acad Sci USA 2000;97:10150–10155.
  • Cao Y, Janssen EM, Duncan AW, et al. Pleiotropic defects in TCR signaling in a Vav-1-null Jurkat T-cell line. EMBO J 2002;21:4809–4819.
  • Capitani N, Ariani F, Amedei A, et al. Vav1 haploinsufficiency in a common variable immunodeficiency patient with defective T-cell function. Int J Immunopathol Pharmacol 2012;25:811–817.
  • Bachmann MF, Nitschke L, Krawczyk C, et al. The guanine-nucleotide exchange factor Vav is a crucial regulator of B cell receptor activation and B cell responses to nonrepetitive antigens. J Immunol 1999;163:137–142.
  • Walmsley MJ, Ooi SK, Reynolds LF, et al. Critical roles for Rac1 and Rac2 GTPases in B cell development and signaling. Science 2003;302:459–462.
  • Alkhairy OK, Rezaei N, Graham RR, et al. RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency. J Allergy Clin Immunol 2015;135:1380–1384.e1–5.
  • Gorjestani S, Yu M, Tang B, et al. Phospholipase Cγ2 (PLCγ2) is key component in Dectin-2 signaling pathway, mediating anti-fungal innate immune responses. J Biol Chem 2011;286:43651–43659.
  • Ombrello MJ, Remmers EF, Sun G, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med 2012;366:330–338.
  • Dolmetsch RE, Lewis RS, Goodnow CC, et al. Differential activation of transcription factors induced by Ca2+ response amplitude and duration. Nature 1997;386:855–858.
  • van de Ven AA, Compeer EB, Bloem AC, et al. Defective calcium signaling and disrupted CD20–B-cell receptor dissociation in patients with common variable immunodeficiency disorders. J Allergy Clin Immunol 2012;129:755–761.
  • Foerster C, Voelxen N, Rakhmanov M, et al. B cell receptor-mediated calcium signaling is impaired in B lymphocytes of type Ia patients with common variable immunodeficiency. J Immunol 2010;184:7305–7313.
  • Kondo N, Inoue R, Yano M, et al. Defective calcium-dependent signal transduction in B lymphocytes of a certain common variable immunodeficiency. Exp Clin Immunogenet 1992;10:16–20.
  • Nitschke L. The role of CD22 and other inhibitory co-receptors in B-cell activation. Curr Opin Immunol 2005;17:290–297.
  • Nitschke L. CD22 and Siglec-G: B-cell inhibitory receptors with distinct functions. Immunol Rev 2009;230:128–143.
  • Li H, Ayer LM, Lytton J, et al. Store-operated cation entry mediated by CD20 in membrane rafts. J Biol Chem 2003;278:42427–42434.
  • Tedder TF, Engel P. CD20: a regulator of cell-cycle progression of B lymphocytes. Immunol Today 1994;15:450–454.
  • Polyak MJ, Li H, Shariat N, et al. CD20 homo-oligomers physically associate with the B cell antigen receptor. Dissociation upon receptor engagement and recruitment of phosphoproteins and calmodulin-binding proteins. J Biol Chem 2008;283:18545–18552.
  • Hara H, Wada T, Bakal C, et al. The MAGUK family protein CARD11 is essential for lymphocyte activation. Immunity 2003;18:763–775.
  • Lindner JM, Wong CS, Möller A, et al. A C-terminal acidic domain regulates degradation of the transcriptional coactivator Bob1. Mol Cell Biol 2013;33:4628–4640.
  • Tampella G, Baronio M, Vitali M, et al. Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency. J Investig Allergol Clin Immunol 2011;21:348.
  • Stepensky P, Keller B, Buchta M, et al. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. J Allergy Clin Immunol 2013;131:477–485. e1.
  • Warnatz K, Baerbel K, Buchta M, et al. Human CARD11 deficiency causes profound combined immunodeficiency (P3325). J Immunol 2013;190:175.10.
  • Newton K, Dixit VM. Mice lacking the CARD of CARMA1 exhibit defective B lymphocyte development and impaired proliferation of their B and T lymphocytes. Curr Biol 2003;13:1247–1251.
  • Schubart DB, Rolink A, Kosco-Vilbois MH, et al. B-cell-specif ic coactivator OBF-1/OCA-B/Bob1 required for immune response and germinal centre formation. Nature 1996;383 538–542.
  • Nielsen PJ, Georgiev O, Lorenz B, et al. B lymphocytes are impaired in mice lacking the transcriptional co-activator Bob1/OCA-B/OBF1. Eur J Immunol 1996;26:3214–3218.
  • Ebisuya M, Kondoh K, Nishida E. The duration, magnitude and compartmentalization of ERK MAP kinase activity: mechanisms for providing signaling specificity. J Cell Sci 2005;118:2997–3002.
  • Visentini M, Marrapodi R, Conti V, et al. Dysregulated extracellular signal-regulated kinase signaling associated with impaired B-cell receptor endocytosis in patients with common variable immunodeficiency. J Allergy Clin Immunol 2014;134:401–410.
  • O'Neill SK, Veselits ML, Zhang M, et al. Endocytic sequestration of the B cell antigen receptor and toll-like receptor 9 in anergic cells. Proc Natl Acad Sci USA 2009;106:6262–6267.
  • Wang J-W, Howson J, Haller E, et al. Identification of a novel lipopolysaccharide-inducible gene with key features of both A kinase anchor proteins and chs1/beige proteins. J Immunol 2001;166:4586–4595.
  • Kristensen AR, Gsponer J, Foster LJ. A high-throughput approach for measuring temporal changes in the interactome. Nat Methods 2012;9:907–909.
  • Alangari A, Alsultan A, Adly N, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol 2012;130:481–488. e2.
  • de Souza N, Vallier LG, Fares H, et al. SEL-2, the C. elegans neurobeachin/LRBA homolog, is a negative regulator of lin-12/Notch activity and affects endosomal traffic in polarized epithelial cells. Development 2007;134:691–702.
  • Lawrence T. The nuclear factor NF-κB pathway in inflammation. Cold Spring Harb Perspect Biol 2009;1:a001651.
  • Sun S-C. The noncanonical NF-κB pathway. Immunol Rev 2012;246:125–140.
  • Chen K, Coonrod EM, Kumánovics A, et al. Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet 2013;93:812–824.
  • Liu Y, Hanson S, Gurugama P, et al. Novel NFKB2 mutation in early-onset CVID. J Clin Immunol 2014;34:686–690.
  • Clark MR, Mandal M, Ochiai K, et al. Orchestrating B cell lymphopoiesis through interplay of IL-7 receptor and pre-B cell receptor signalling. Nat Rev Immunol 2014;14:69–80.
  • Offer SM, Pan-Hammarstrom Q, Hammarstrom L, et al. Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID. PloS one 2010;5:e12260.
  • Posey JE, Brandt VL, Roth DB. Paradigm switching in the germinal center. Nat Immunol 2004;5:476–477.
  • Sekine H, Ferreira RC, Pan-Hammarstrom Q, et al. Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci USA 2007;104:7193–7198.
  • Peron S, Pan-Hammarstrom Q, Imai K, et al. A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J Exp Med 2007;204:1207–1216.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.