Toward the stratification and personalization of common variable immunodeficiency treatment

References

• Cunningham-Rundles C, Maglione PJ. Common variable immunodeficiency. J Allergy Clin Immunol. 2012;129(5):1425–1426.e3.
   PubMed Web of Science ®Google Scholar
• Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92(1):34–48.
   PubMed Web of Science ®Google Scholar
• Kondratenko I, Amlot P, Webster A, et al. Lack of specific antibody response in common variable immunodeficiency (CVID) associated with failure in production of antigen‐specific memory T cells. Clin Exp Immunol. 1997;108(1):9–13.
   PubMed Web of Science ®Google Scholar
• Resnick ES, Moshier EL, Godbold JH, et al. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012;119(7):1650–1657.
   PubMed Web of Science ®Google Scholar
• Aghamohammadi A, Pouladi N, Parvaneh N, et al. Mortality and morbidity in common variable immunodeficiency. J Trop Pediatr. 2007;53(1):32–38.
   PubMed Web of Science ®Google Scholar
• Quinti I, Soresina A, Spadaro G, et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol. 2007;27(3):308–316.
   PubMed Web of Science ®Google Scholar
• Oksenhendler E, Gérard L, Fieschi C, et al. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis. 2008;46(10):1547–1554.
   PubMed Web of Science ®Google Scholar
• Saito E, Fujimoto M, Hasegawa M, et al. CD19-dependent B lymphocyte signaling thresholds influence skin fibrosis and autoimmunity in the tight-skin mouse. J Clin Invest. 2002;109(11):1453–1462.
   PubMed Web of Science ®Google Scholar
• Peterslund NA, Koch C, Jensenius JC, et al. Association between deficiency of mannose-binding lectin and severe infections after chemotherapy. The Lancet. 2001;358(9282):637–638.
   PubMed Web of Science ®Google Scholar
• Modell V, Gee B, Lewis DB, et al. Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res. 2011;51(1):61–70.
   PubMed Web of Science ®Google Scholar
• Castigli E, Wilson SA, Garibyan L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005;37(8):829–834.
   PubMed Web of Science ®Google Scholar
• Aghamohammadi A, Mohammadi J, Parvaneh N, et al. Progression of selective IgA deficiency to common variable immunodeficiency. Int Arch Allergy Immunol. 2008;147(2):87–92.
   PubMed Web of Science ®Google Scholar
• Vorechovský I, Zetterquist H, Paganelli R, et al. Family and linkage study of selective IgA deficiency and common variable immunodeficiency. Clin Immunol Immunopathol. 1995;77(2):185–192.
   PubMedGoogle Scholar
• Sadeghi B, Abolhassani H, Naseri A, et al. Economic burden of common variable immunodeficiency: annual cost of disease. Expert Rev Clin Immunol. 2015;11(5):681–688.
   PubMed Web of Science ®Google Scholar
• Busse PJ, Razvi S, Cunningham-Rundles C. Efficacy of intravenous immunoglobulin in the prevention of pneumonia in patients with common variable immunodeficiency. J Allergy Clin Immunol. 2002;109(6):1001–1004.
   PubMed Web of Science ®Google Scholar
• Orange JS, Hossny EM, Weiler CR, et al. Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology. J Allergy Clin Immunol. 2006;117(4):S525–S553.
   PubMed Web of Science ®Google Scholar
• 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):1–5.
   PubMed Web of Science ®Google Scholar
• Hügle B, Suchowerskyj P, Hellebrand H, et al. Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease–report of three cases. J Clin Immunol. 2004;24(5):515–522.
   PubMed Web of Science ®Google Scholar
• Bonilla FA, Barlan I, Chapel H, et al. International Consensus Document (ICON): common variable immunodeficiency disorders. J Allergy Clin Immunol Pract. 2016;4(1):38–59.
   PubMed Web of Science ®Google Scholar
• Ameratunga R, Brewerton M, Slade C, et al. Comparison of diagnostic criteria for common variable immunodeficiency disorder. Front Immunol. 2014;5:415.
   PubMed Web of Science ®Google Scholar
• Yel L, Minegishi Y, Coustan-Smith E, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. New Engl J Med. 1996;335(20):1486–1493.
   PubMed Web of Science ®Google Scholar
• Ferrari S, Zuntini R, Lougaris V, et al. Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. Genes Immun. 2007;8(4):325–333.
   PubMed Web of Science ®Google Scholar
• Wang Y, Kanegane H, Sanal O, et al. Novel Igα (CD79a) gene mutation in a Turkish patient with B cell‐deficient agammaglobulinemia. Am J Med Genet. 2002;108(4):333–336.
   PubMed Web of Science ®Google Scholar
• Milili M, Antunes H, Blanco-Betancourt C, et al. A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus. Eur J Pediatr. 2002;161(9):479–484.
   PubMed Web of Science ®Google Scholar
• Pan Q, Hammarström L. Molecular basis of IgG subclass deficiency. Immunol Rev. 2000;178(1):99–110.
   PubMed Web of Science ®Google Scholar
• Noguchi M, Yi H, Rosenblatt HM, et al. Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993;73(1):147–157.
   PubMed Web of Science ®Google Scholar
• Macchi P, Villa A, Giliani S, et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature. 1995;377(6544):65–68.
   PubMed Web of Science ®Google Scholar
• Puel A, Ziegler SF, Buckley RH, et al. Defective IL7R expression in T-B+ NK+ severe combined immunodeficiency. Nat Genet. 1998;20(4):394–397.
   PubMed Web of Science ®Google Scholar
• Chan AC, Kadlecek TA, Elder ME, et al. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Science. 1994;264(5165):1599–1601.
   PubMed Web of Science ®Google Scholar
• Kung C, Pingel JT, Heikinheimo M, et al. Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat Med. 2000;6(3):343–345.
   PubMed Web of Science ®Google Scholar
• Winkelstein JA, Marino MC, Lederman HM, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine. 2006;85(4):193–202.
   PubMed Web of Science ®Google Scholar
• Futatani T, Miyawaki T, Tsukada S, et al. Deficient expression of Bruton’s tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Blood. 1998;91(2):595–602.
   PubMed Web of Science ®Google Scholar
• Nichols KE, Harkin DP, Levitz S, et al. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci. 1998;95(23):13765–13770.
   PubMed Web of Science ®Google Scholar
• Rigaud S, Fondanèche M-C, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006;444(7115):110–114.
   PubMed Web of Science ®Google Scholar
• Revy P, Muto T, Levy Y, et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell. 2000;102(5):565–575.
   PubMed Web of Science ®Google Scholar
• Aruffo A, Farrington M, Hollenbaugh D, et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell. 1993;72(2):291–300.
   PubMed Web of Science ®Google Scholar
• Morra M, Silander O, Calpe S, et al. Alterations of the X-linked lymphoproliferative disease geneSH2D1A in common variable immunodeficiency syndrome. Blood. 2001;98(5):1321–1325.
   PubMed Web of Science ®Google Scholar
• Malphettes M, Gérard L, Carmagnat M, et al. Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. Clin Infect Dis. 2009;49(9):1329–1338.
   PubMed Web of Science ®Google Scholar
• Kanathur N, Byrd R Jr, Fields C, et al. Noncaseating granulomatous disease in common variable immunodeficiency. South Med J. 2000;93(6):631–633.
   PubMed Web of Science ®Google Scholar
• Mullighan CG, Fanning GC, Chapel HM, et al. TNF and lymphotoxin-alpha polymorphisms associated with common variable immunodeficiency: role in the pathogenesis of granulomatous disease. J Immunol. 1997;159(12):6236–6241.
   PubMed Web of Science ®Google Scholar
• Warnatz K, Denz A, Dräger R, 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.
   PubMed Web of Science ®Google Scholar
• Cunningham-Rundles C. How I treat common variable immune deficiency. Blood. 2010;116(1):7–15.
   PubMed Web of Science ®Google Scholar
• Brugnoni D, Airò P, Graf D, et al. Ontogeny of CD40 expression by activated peripheral blood lymphocytes in humans. Immunol Lett. 1996;49(1):27–30.
   PubMed Web of Science ®Google Scholar
• Notarangelo LD, Sorensen R. Is it necessary to identify molecular defects in primary immunodeficiency disease? J Allergy Clin Immunol. 2008;122(6):1069–1073.
   PubMed Web of Science ®Google Scholar
• Gouilleux‐Gruart V, Chapel H, Chevret S, et al. Efficiency of immunoglobulin G replacement therapy in common variable immunodeficiency: correlations with clinical phenotype and polymorphism of the neonatal Fc receptor. Clin Exp Immunol. 2013;171(2):186–194.
   PubMed Web of Science ®Google Scholar
• Warnatz K, Bossaller L, Salzer U, et al. Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. Blood. 2006;107(8):3045–3052.
   PubMed Web of Science ®Google Scholar
• Wang HY, Ma CA, Zhao Y, 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.
   PubMed Web of Science ®Google Scholar
• Pan-Hammarström Q, Salzer U, Du L, et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet. 2007;39(4):429.
   PubMed Web of Science ®Google Scholar
• 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(6):1165–1179.
   PubMed Web of Science ®Google Scholar
• Salzer U, Chapel H, Webster A, et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 2005;37(8):820–828.
   PubMed Web of Science ®Google Scholar
• van Zelm MC, Reisli I, van der Burg M, et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. New Engl J Med. 2006;354(18):1901–1912.
   PubMed Web of Science ®Google Scholar
• 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(1):214–222.
   PubMed Web of Science ®Google Scholar
• Thiel J, Kimmig L, Salzer U, et al. Genetic CD21 deficiency is associated with hypogammaglobulinemia. J Allergy Clin Immunol. 2012;129(3):801–810 e806.
   PubMed Web of Science ®Google Scholar
• 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(4):1265–1274.
   PubMed Web of Science ®Google Scholar
• Sekine H, Ferreira RC, Pan-Hammarstrom Q, et al. Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A. 2007;104(17):7193–7198.
   PubMed Web of Science ®Google Scholar
• Salzer E, Santos-Valente E, Klaver S, et al. B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C delta. Blood. 2013;121(16):3112–3116.
   PubMed Web of Science ®Google Scholar
• Kannan JA, Davila-Saldana BJ, Zhang K, et al. Activated phosphoinositide 3-kinase delta syndrome in a patient with a former diagnosis of common variable immune deficiency, bronchiectasis, and lymphoproliferative disease. Ann Allergy Asthma Immunol: off Publ Am Coll Allergy Asthma Immunol. 2015;115(5):452–454.
   PubMed Web of Science ®Google Scholar
• 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(6):986–1001.
   PubMed Web of Science ®Google Scholar
• Milner JD, Vogel TP, Forbes L, et al. Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood. 2015;125(4):591–599.
   PubMed Web of Science ®Google Scholar
• Holland SM, DeLeo FR, Elloumi HZ, et al. STAT3 mutations in the hyper-IgE syndrome. New Engl J Med. 2007;357(16):1608–1619.
   PubMed Web of Science ®Google Scholar
• Akbari O, Freeman GJ, Meyer EH, et al. Antigen-specific regulatory T cells develop via the ICOS–ICOS-ligand pathway and inhibit allergen-induced airway hyperreactivity. Nat Med. 2002;8(9):1024–1032.
   PubMed Web of Science ®Google Scholar
• Bryant VL, Ma CS, Avery DT, et al. Cytokine-mediated regulation of human B cell differentiation into Ig-secreting cells: predominant role of IL-21 produced by CXCR5+ T follicular helper cells. J Immunol. 2007;179(12):8180–8190.
   PubMed Web of Science ®Google Scholar
• Akiba H, Takeda K, Kojima Y, et al. The role of ICOS in the CXCR5+ follicular B helper T cell maintenance in vivo. J Immunol. 2005;175(4):2340–2348.
   PubMed Web of Science ®Google Scholar
• Chtanova T, Tangye SG, Newton R, et al. T follicular helper cells express a distinctive transcriptional profile, reflecting their role as non-Th1/Th2 effector cells that provide help for B cells. J Immunol. 2004;173(1):68–78.
   PubMed Web of Science ®Google Scholar
• Durandy A, Taubenheim N, Peron S, et al. Pathophysiology of B‐cell intrinsic immunoglobulin class switch recombination deficiencies. Adv Immunol. 2007;94:275–306.
   PubMedGoogle Scholar
• Salzer U, Grimbacher B. TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity?: new genetic defects in common variable immunodeficiency. Curr Opin Allergy Clin Immunol. 2005;5(6):496–503.
   PubMed Web of Science ®Google Scholar
• Losi CG, Silini A, Fiorini C, et al. Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. J Clin Immunol. 2005;25(5):496–502.
   PubMed Web of Science ®Google Scholar
• Bossen C, Cachero TG, Tardivel A, et al. TACI, unlike BAFF-R, is solely activated by oligomeric BAFF and APRIL to support survival of activated B cells and plasmablasts. Blood. 2008;111(3):1004–1012.
   PubMed Web of Science ®Google Scholar
• Schiemann B, Gommerman JL, Vora K, et al. An essential role for BAFF in the normal development of B cells through a BCMA-independent pathway. Science. 2001;293(5537):2111–2114.
   PubMed Web of Science ®Google Scholar
• Gross JA, Johnston J, Mudri S, et al. TACI and BCMA are receptors for a TNF homologue implicated in B-cell autoimmune disease. Nature. 2000;404(6781):995–999.
   PubMed Web of Science ®Google Scholar
• Warnatz K, Wehr C, Dräger R, et al. Expansion of CD19 hi CD21 lo/neg B cells in common variable immunodeficiency (CVID) patients with autoimmune cytopenia. Immunobiology. 2002;206(5):502–513.
   PubMed Web of Science ®Google Scholar
• Elizalde A, Hudey S, Dorsey M, et al. CD21-/low B cells are increased in both common variable immune deficiency (CVID) and specific antibody deficiency (SAD). J Allergy Clin Immunol. 2011;127(2, Supplement):AB135.
   Google Scholar
• Frank MM. CD21 deficiency, complement, and the development of common variable immunodeficiency. J Allergy Clin Immunol. 2012;129(3):811–813.
   PubMed Web of Science ®Google Scholar
• Omori SA, Rickert RC. Phosphatidylinositol 3-kinase (PI3K) signaling and regulation of the antibody response. Cell Cycle. 2007;6(4):397–402.
   PubMed Web of Science ®Google Scholar
• Orange JS, Glessner JT, Resnick E, et al. Genome-wide association identifies diverse causes of common variable immunodeficiency. J Allergy Clin Immunol. 2011;127(6):1360–1367e1366.
   PubMed Web of Science ®Google Scholar
• International HapMap C, Frazer KA, Ballinger DG, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007;449(7164):851–861.
   PubMed Web of Science ®Google Scholar
• Radojkovic M, Ristic S, Divac A, et al. Novel ORC4L gene mutation in B-cell lymphoproliferative disorders. Am J Med Sci. 2009;338(6):527–529.
   PubMed Web of Science ®Google Scholar
• Abolhassani H, Sadaghiani MS, Aghamohammadi A, et al. Home-based subcutaneous immunoglobulin versus hospital-based intravenous immunoglobulin in treatment of primary antibody deficiencies: systematic review and meta analysis. J Clin Immunol. 2012;32(6):1180–1192.
   PubMed Web of Science ®Google Scholar
• Berger M, Flebogamma DIFI. A multicenter, prospective, open label, historically controlled clinical trial to evaluate efficacy and safety in primary immunodeficiency diseases (PID) patients of Flebogamma 5% DIF, the next generation of Flebogamma. J Clin Immunol. 2007;27(6):628–633.
   PubMed Web of Science ®Google Scholar
• Wehr C, Gennery AR, Lindemans C, et al. Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. J Allergy Clin Immunol. 2015;135(4):988–997. e986.
   PubMed Web of Science ®Google Scholar
• Rizzi M, Neumann C, Fielding AK, et al. Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency. J Allergy Clin Immunol. 2011;128(6):1371–1374e1372.
   PubMed Web of Science ®Google Scholar
• Allewelt H, Martin PL, Szabolcs P, et al. Hematopoietic stem cell transplantation for CD40 ligand deficiency: single institution experience. Pediatr Blood Cancer. 2015;62(12):2216–2222.
   PubMed Web of Science ®Google Scholar
• Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun. 2005;25(1):57–62.
   PubMed Web of Science ®Google Scholar
• Cunningham-Rundles C. Autoimmune manifestations in common variable immunodeficiency. J Clin Immunol. 2008;28(1):42–45.
   Web of Science ®Google Scholar
• Zhang L, Radigan L, Salzer U, et al. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. J Allergy Clin Immunol. 2007;120(5):1178–1185.
   PubMed Web of Science ®Google Scholar
• Mullighan C, Marshall S, Welsh K. Mannose binding lectin polymorphisms are associated with early age of disease onset and autoimmunity in common variable immunodeficiency. Scand J Immunol. 2000;51(2):111–122.
   PubMed Web of Science ®Google Scholar
• Kralovicova J, Hammarström L, Plebani A, et al. Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency. J Immunol. 2003;170(5):2765–2775.
   PubMed Web of Science ®Google Scholar
• Keller MD, Jyonouchi S. Chipping away at a mountain: genomic studies in common variable immunodeficiency. Autoimmun Rev. 2013;12(6):687–689.
   PubMed Web of Science ®Google Scholar