Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

Nature Immunology

Volumn 4, Issue 3, 2003, Pages 261-268

  Grimbacher, Bodo ^a   Hutloff, Andreas ^b   Schlesier, Michael ^a   Glocker, Erik ^a   Warnatz, Klaus ^a   Dräger, Ruth ^a   Eibel, Hermann ^c   Fischer, Beate ^c   Schäffer, Alejandro A ^d   Mages, Hans W ^b   Kroczek, Richard A ^b   Peter, Hans H ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b ROBERT KOCH INSTITUTE   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE; GAMMA INTERFERON; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INTERLEUKIN 10; INTERLEUKIN 13; INTERLEUKIN 2; INTERLEUKIN 4; LYMPHOCYTE ANTIGEN; PROTEIN ICOS; REGULATOR PROTEIN; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; B LYMPHOCYTE; B LYMPHOCYTE DIFFERENTIATION; CELL PROLIFERATION; CELL REGENERATION; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; CYTOKINE PRODUCTION; CYTOKINE RELEASE; GENE DELETION; GENE SWITCHING; GENETIC ANALYSIS; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; HYPOGAMMAGLOBULINEMIA; IMMUNOGLOBULIN BLOOD LEVEL; LYMPHOCYTE SUBPOPULATION; MEMORY CELL; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; T LYMPHOCYTE ACTIVATION;

ANTIGENS, CD28; ANTIGENS, DIFFERENTIATION, T-LYMPHOCYTE; B-LYMPHOCYTES; CELL DIFFERENTIATION; COMMON VARIABLE IMMUNODEFICIENCY; HOMOZYGOTE; HUMANS; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; IMMUNOLOGIC MEMORY; RECEPTORS, ANTIGEN, T-CELL; SEQUENCE DELETION; T-LYMPHOCYTES;

EID: 0037340349     PISSN: 15292908     EISSN: None     Source Type: Journal    
DOI: 10.1038/ni902     Document Type: Article

References (55)

1. Carreno, B.M. & Collins, M. The B7 family of ligands and its receptors: new pathways for costimulation and inhibition of immune responses. Annu. Rev. Immunol. 20, 29-53 (2002).
2. Chambers, C.A. & Allison, J.P. Costimulatory regulation of T cell function. Curr. Opin. Cell Biol. 11, 203-210 (1999).
3. Hutloff, A. et al. ICOS is an inducible T-cell co-stimulator structurally and functionally related to CD28. Nature 397, 263-266 (1999).
4. Yoshinaga, S.K. et al. T-cell co-stimulation through B7RP-I and ICOS. Nature 402, 827-832 (1999).
5. Mages, H.W. et al. Molecular cloning and characterization of murine ICOS and identification of B7h as ICOS ligand. Eur. J. Immunol. 30, 1040-1047 (2000).
6. Beier, K.C. et al. Induction, binding specificity and function of human ICOS. Eur. J. Immunol. 30, 3707-3717 (2000).
7. Swallow, M.M., Wallin, J.J. & Sha, W.C. B7h, a novel costimulatory homolog of B7.1 and B7.2, is induced by TNFα. Immunity 11, 423-432 (1999).
8. + T cells. Proc. Natl. Acad. Sci. USA 99, 6198-6203 (2002).
9. Wahl, P. et al. Renal tubular epithelial expression of the costimulatory molecule B7RP-1 (inducible costimulator ligand). J. Am. Soc. Nephrol. 13, 1517-1526 (2002).
10. Liang, L. & Sha, W.C. The right place at the right time: novel B7 family members regulate effector T cell responses. Curr. Opin. Immunol. 14, 384-390 (2002).
11. Witsch, E.J. et al. ICOS and CD28 reversely regulate IL-10 on re-activation of human effector T cells with mature dendritic cells. Eur. J. Immunol. 32, 2680-2686 (2002).
12. Choe, J. & Choi, Y.S. IL-10 interrupts memory B cell expansion in the germinal center by inducing differentiation into plasma cells. Eur. J. Immunol. 28, 508-515 (1998).
13. Kindler, V. & Zubler, R.H. Memory, but not naive, peripheral blood B lymphocytes differentiate into Ig-secreting cells after CD40 ligation and costimulation with IL-4 and the differentiation factors IL-2, IL-10, and IL-3. J. Immunol. 159, 2085-2090 (1997).
14. Rousset, F. et al. Interleukin 10 is a potent growth and differentiation factor for activated human B lymphocytes. Proc. Natl. Acad. Sci. USA 89, 1890-1893 (1992).
15. Dong, C. et al. ICOS co-stimulatory receptor is essential for T-cell activation and function. Nature 409, 97-101 (2001).
16. McAdam, A.J. et al. ICOS is critical for CD40-mediated antibody class switching. Nature 409, 102-105 (2001).
17. Tafuri, A. et al. ICOS is essential for effective T-helper-cell responses. Nature 409, 105-109 (2001).
18. International Union of Immunological Societies (IUIS). Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. Clin. Exp. Immunol. 118 (Suppl. 1), 1-28 (1999).
19. Vořechovský, I., Webster, A.D.B., Plebani, A. & Hammarström, L. Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition. Am. J. Hum. Genet 64, 1096-1109 (1999).
20. Vořechovský, I., Cullen, M., Carrington, M., Hammarström, L. & Webster, A.D.B. Fine mapping of IGADI in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families. J. Immunol. 164, 4408-4416 (2000).
21. Hammarström, L., Voechovsky, I. & Webster, D. Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID). Clin. Exp. Immunol. 120, 225-231 (2000).
22. Spickett, G.P. et al. Common variable immunodeficiency: how many diseases? Immunol. Today 18, 325-328 (1997).
23. Cunningham-Rundles, C. & Bodian, C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin. Immunol. 92, 34-48 (1999).
24. Spickett, G.P. Current perspectives on common variable immunodeficiency (CVID). Clin. Exp. Allergy 31, 536-542 (2001).
25. North, M.E., Webster, A.D.B. & Farrant, J. Defects in proliferative responses of T cells from patients with common variable immunodeficiency on direct activation of protein kinase C. Clin. Exp. Immunol. 85, 198-201 (1991).
26. Pastorelli, G. et al. Peripheral blood lymphocytes of patients with common variable immunodeficiency (CVI) produce reduced levels of interleukin-4, interleukin-2 and interferon-γ, but proliferate normally upon activation by mitogens. Clin. Exp. Immunol. 78, 334-340 (1989).
27. Rump, J.A. et al. Possible role of IL-2 deficiency for hypogammaglobulinaemia in patients with common variable immunodeficiency. Clin. Exp. Immunol. 89, 204-210 (1992).
28. Farrington, M. et al. CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. Proc. Natl. Acad. Sci. USA 91, 1099-1103 (1994).
29. Fischer, M.B. 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. 26, 231-237 (1996).
30. Zhang, J.G., Morgan, L. & Spickett, G.P. L-selectin in patients with common variable immunodeficiency (CVID): a comparative study with normal individuals. Clin. Exp. Immunol. 104, 275-279 (1996).
31. Kondratenko, I., Amlot, P.L., Webster, A.D.B. & Farrant, J. Lack of specific antibody response in common variable immunodeficiency (CVID) associated with failure in production of antigen-specific memory T cells. Clin. Exp. Immunol. 108, 9-13 (1997).
32. + T cells define a unique subset of patients with common variable immunodeficiency. Blood 82, 192-201 (1993).
33. Boncristiano, M. et al. Defective recruitment and activation of ZAP-70 in common variable immunodeficiency patients with T cell defects. Eur. J. Immunol. 30, 2632-2638 (2000).
34. + T lymphocytes of common variable immunodeficiency (CVID) patients. Clin. Exp. Immunol. 110, 174-181 (1997).
35. Kikutani, H. et al. Fcε receptor, a specific differentiation marker transiently expressed on mature B cells before isotype switching. J. Exp. Med. 164, 1455-1469 (1986).
36. Denz, A. et al. Impaired up-regulation of CD86 in B cells of "type A" common variable immunodeficiency patients. Eur. J. Immunol. 30, 1069-1077 (2000).
37. Levy, Y. et al. Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome. Proc. Natl. Acad. Sci. USA 95, 13135-13140 (1998).
38. Eisenstein, E.M. & Strober, W. Evidence for a generalized signaling abnormality in B cells from patients with common variable immunodeficiency. Adv. Exp. Med Biol. 371B, 699-704 (1995).
39. Brouet, J.-C., Chedeville, A., Fermand, J.-P. & Royer, B. Study of the B cell memory compartment in common variable immunodeficiency. Eur. J. Immunol. 30, 2516-2520 (2000).
40. Jacquot, S. et al. B cell co-receptors regulating T cell-dependent antibody production in common variable immunodeficiency: CD27 pathway defects identify subsets of severely immuno-compromised patients. Int. Immunol. 13, 871-876 (2001).
41. -) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 99, 1544-1551 (2002).
42. Bryant, A., Calver, N.C., Toubi, E., Webster, A.D.B. & 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. 56, 239-248 (1990).
43. + T cells. J. Immunol. 165, 5035-5040 (2000).
44. Ott J. Analysis of Human Genetic Linkage (Johns Hopkins University Press, Baltimore, 1999).
45. Antonarakis, S.E., Krawczak, M. & Cooper, D.N. The nature and mechanisms of human gene mutation. in The Metabolic and Molecular Bases of Inherited Disease (C.R. Scriver, ed.) 343-377 (McGraw-Hill, New York, 2001).
46. Ghia, P. et al. Ordering of human bone marrow B lymphocyte precursors by single-cell polymerase chain reaction analyses of the rearrangement status of the immunoglobulin H and L chain gene loci. J. Exp. Med. 184, 2217-2229 (1996).
47. Al-Ghamdi, A. et al. Vulvar squamous cell carcinoma in young women: a clinicopathologic study of 21 cases. Gynecol. Oncol. 84, 94-101 (2002).
48. Löhning, M. et al. Expression of ICOS in vivo defines CD4 effector T cells with high inflammatory potential and a strong bias for secretion of Interleukin 10. J. Exp. Med. 197, 181-193 (2003).
49. Notarangelo, L.D., Duse, M. & Ugazio, A.G. Immunodeficiency with hyper-IgM (HIM). Immunodefic. Rev. 3, 101-121 (1992).
50. Kroczek, R.A. et al. Defective expression of CD40 ligand on T cells causes X-linked immunodeficiency with hyper-IgM (HIGMI). Immunol. Rev. 138, 39-59 (1994).
51. Dong, C., Temann, U.-A. & Flavell, R.A. Cutting edge: critical role of inducible costimulator in germinal center reactions. J. Immunol. 166, 3659-3662 (2001).
52. Herbst, E.W., Armbruster, M., Rump, J.-A., Buscher, H.P. & Peter, H.-H. Intestinal B cell defects in common variable immunodeficiency. Clin. Exp. Immunol. 95, 215-221 (1994).
53. Artus, U., Herbst, E.W., Rump, J.A. & Peter, H.H. Defects of immunoglobulin-producing cells in bone marrow of patients with common variable immunodeficiency. Immun. Infekt. 23, 69-71 (1995).
54. Flavell, D.J. et. al. Preclinical studies with the anti-CD19-saporin immunotoxin BU12-SAPORIN for the treatment of human-B-cell tumours. Br. J. Cancer 72, 1373-1379 (1995).
55. Kroczek, R.A. & Siebert, E. Optimization of northern analysis by vacuum-blotting, RNA-transfer visualization, and ultraviolet fixation. Anal. Biochem. 184, 90-95 (1990).