Common variable immunodeficiency in children

Current Opinion in Pediatrics

Volumn 19, Issue 6, 2007, Pages 685-692

  Glocker, Erik ^a   Ehl, Stephan ^b   Grimbacher, Bodo ^a  

^a ROYAL FREE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

B cells; CD19; ICOS; MSH5; Selective IgA deficiency; TACI

Indexed keywords

AMOXICILLIN; COTRIMOXAZOLE; CYCLOPHILIN; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; MACROLIDE; QUINOLONE; TRANSMEMBRANE ACTIVATOR AND CALCIUM MODULATING CYCLOPHILIN LIGAND INTERACTOR; TUMOR NECROSIS FACTOR RECEPTOR; UNCLASSIFIED DRUG;

ANTIBIOTIC PROPHYLAXIS; AUTOIMMUNE CYTOPENIA; AUTOIMMUNE DISEASE; AUTOSOMAL DOMINANT INHERITANCE; B LYMPHOCYTE ACTIVATION; BACTERIAL INFECTION; BRONCHIECTASIS; CAMPYLOBACTER JEJUNI; CD19 PROTEIN DEFICIENCY; CHROMOSOME 16Q; CHROMOSOME 4Q; CLINICAL FEATURE; COMMON VARIABLE IMMUNODEFICIENCY; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; DRUG HALF LIFE; DRUG TOLERANCE; EARLY DIAGNOSIS; EMPHYSEMA; ENTERITIS; FEVER; FIBROSIS; FLOW CYTOMETRY; GASTROINTESTINAL INFECTION; GENE MUTATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETICS; GIARDIA LAMBLIA; HAEMOPHILUS INFLUENZAE; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN A DEFICIENCY; IMMUNOSUPPRESSIVE TREATMENT; INFECTIOUS ARTHRITIS; LYMPHOPROLIFERATIVE DISEASE; MALAISE; MORAXELLA CATARRHALIS; PATHOGENESIS; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY FAILURE; REVIEW; STREPTOCOCCUS PNEUMONIAE; T LYMPHOCYTE; URINARY TRACT INFECTION; VIRUS INFECTION; VOMITING;

AGAMMAGLOBULINEMIA; ANTIGENS, CD19; BACTERIAL INFECTIONS; CHILD; COMMON VARIABLE IMMUNODEFICIENCY; DIAGNOSIS, DIFFERENTIAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); PHENOTYPE; RECURRENCE;

EID: 36348946296     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e3282f1ddd5     Document Type: Review

References (93)

1. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999; 92:34-48.
2. International Union of Immunological Societies. Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies. Clin Exp Immunol 1999; 118:1-28.
3. Eades-Perner A-M, Gathmann B, Knerr V, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2004-2006. Clin Exp Immunol 2007; 147:306-312.
4. Hermaszewski RA, Webster AD. Primary hypogammaglobulinemia: a survey of clinical manifestations and complications. Q J Med 1993; 86:31-42.
5. Hill A, Thompson RA, Wallwork J, Stableforth DE. Heart lung transplantation in a patient with end stage lung disease due to common variable immunodeficiency. Thorax 1998; 53:622-623.
6. Hammarstroem L, Smith CIE. Genetic approach to common variable immunodeficiency and IgA deficiency. In: Ochs HD, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases: a molecular and genetic approach. New York, NY: Oxford University Press; 2001. pp. 250-262.
7. Washington K, Stenzel TT, Buckley RH, Gottfried MR. Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia. Am J Surg Pathol 1996; 20:1240-1252.
8. Bonilla HF, Chenoweth CE, Tully JG, et al. Mycoplasma felis septic arthritis in a patient with hypogammaglobulinemia. Clin Infect Dis 1997; 24:222-225.
9. Steuer A, Franz A, Furr PM, et al. Common variable immunodeficiency presenting as a Mycoplasma hominis septic arthritis. J Infect 1996; 33:235-237.
10. Wheat WH, Cool CD, Morimoto Y, et al. Possible role of human herpesvirus 8 in the lymphoproliferative disorders in common variable immunodeficiency. J Exp Med 2005; 202:479-484.
11. Spickett GP. Current perspectives on common variable immunodeficiency. Clin Exp Allergy 2001; 31:536-542.
12. Rudge P, Webster AD, Revesz T, et al. Encephalomyelitis in primary hypogammaglobulinemia. Brain 1996; 119:1-15.
13. Medlicott SA, Coderre S, Horne G, Panaccione R. Multimodal immunosuppressant therapy in steroid-refractory common variable immunodeficiency sprue: a case report complicating cytomegalovirus infection. Int J Surg Pathol 2006; 14:101-106.
14. Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun 2005; 25:57-62.
15. Cunningham-Rundles C. Hematologic complications of primary immune deficiencies. Blood Rev 2002; 16:61-64.
16. Knight AK, Cunningham-Rundles C. Inflammatory and autoimmune complications of common variable immune deficiency. Autoimmun Rev 2006; 5:156-159.
17. Michel M, Chanet V, Galicier L, et al. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore) 2004; 83:254-263.
18. Uluhan A, Sager D, Jasin HE. Juvenile rheumatoid arthritis and common variable hypogammaglobulinemia. J Rheumatol 1998; 25:1205-1210.
19. Fernandez-Castro M, Mellor-Pita S, Jesus Citores M, et al. Common variable immunodeficiency in systemic lupus erythematosus. Semin Arthritis Rheum 2007; 36:238-245.
20. Mechanic L, Dikman S, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Ann Intern Med 1997; 127:613-617.
21. Bates CA, Ellison MC, Lynch DA, et al. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol 2004; 114:415-421.
22. Gompels MM, Hodges E, Lock RJ, et al. Lymphoproliferative disease in antibody deficiency: a multicentre study. Clin Exp Immunol 2003; 134:314-320.
23. Cunningham-Rundles C, Cooper DL, Duffy TP, Strauchen J. Lymphomas of mucosal-associated lymphoid tissue in common variable immunodeficiency. Am J Hematol 2002; 69:171-178.
24. Bryant A, Calver NC, Toubi E, et al. 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; 56:239-248.
25. -) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 2002; 99:1544-1551.
26. Piqueras B, Lavenu-Bombled C, Galicier L, et al. Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects. J Clin Immunol 2003; 23:385-400.
27. 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.
28. Di Renzo M, Serrano D, Zhou Z, et al. Enhanced T cell apoptosis in common variable immunodeficiency: negative role of the fas/fas ligand system and of the Bcl-2 family proteins and possible role of TNF-RS. Clin Exp Immunol 2001; 125:117-122.
29. Farrington M, Grosmaire S, 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.
30. Oliva A, Scala E, Quinti I, et al. IL-10 production and CD40L expression in patients with common variable immunodeficiency. Scan J Immunol 1997; 46:86-90.
31. Giovannetti A, Pierdominici M, Mazzetta F, et al. Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J Immunol 2007; 178:3932-3943.
32. Veillette A. Immune regulation by SLAM family receptors and SAP-related adaptors. Nat Rev Immunol 2006; 6:56-66.
33. Pasquier B, Yin L, Fondaneche M-C, et al. Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product. J Exp Med 2005; 201:695-701.
34. Eastwood D, Gilmour KC, Nistala K, et al. Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. Clin Exp Immunol 2004; 137:584-588.
35. Weston SA, Prasad ML, Mullighan CG, et al. Assessment of male CVID patients for mutations in the Btk gene: how many have been misdiagnosed? Clin Exp Immunol 2001; 124:465-469.
36. Allen RC, Armitage RJ, Conley ME, et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 1993; 259:990-993.
37. 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; 72:291-300.
38. 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; 102:565-575.
39. Ferrari S, Giliani S, Insalaco A, et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci USA 2001; 98:12614-12619.
40. Imai K, Slupphaug G, Lee W-I, et al. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol 2003; 4:1023-1028.
41. Imai K, Zhu Y, Revy P, Morio T, et al. Analysis of class switch recombination and somatic hypermutation in patients affected with autosomal dominant hyper-IgM syndrome type 2. Clin Immunol 2005; 115:277-285.
42. Kidon MI, Handzel ZT, Schwartz R, et al. Symptomatic hypogammaglobulinemia in infancy and childhood - clinical outcome and in vitro immune responses. BMC Fam Pract 2004; 5:23.
43. Gitlin D, Janeway CA. Agammaglobulinemia, congenital, acquired and transient forms. Prog Hematol 1956; 1:318-329.
44. Whelan MA, Hwan WH, Beausoleil J, et al. Infants presenting with recurrent infections and low immunoglobulins: characteristics and analysis of normalization. J Clin Immunol 2006; 26:7-11.
45. Ashman RF, Schaffer FM, Kemp JD, et al. Genetic and immunologic analysis of a family containing five patients with common variable immune deficiency or selective IgA deficiency. J Clin Immunol 1992; 12:406-414.
46. Vorechovsky I, Cullen M, Carrington L, et al. Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families. J Immunol 2000; 164:4408-4416.
47. Vorechovsky I, Zetterquist H, Paganelli R, et al. Family and Linkage study of selective IgA deficiency and common variable immunodeficiency. Clin Immunol Immunopathol 1995; 77:185-192.
48. Burrows PD, Cooper MD. IgA deficiency. Adv Immunol 1997; 65:245-276.
49. Ishizaka A, Nakanishi M, Yamada S, et al. Development of hypogammaglobulinaemia in a patient with common variable immunodeficiency. Eur J Pediatr 1989; 149:175-176.
50. Espanol T, Catala M, Hernandez M, et al. Development of a common variable immunodeficiency in IgA-deficient patients. Clin Immunol Immunopathol 1996; 80:333-335.
51. Johnson ML, Keeton LG, Zhu ZB, et al. Age-related changes in serum immunoglobulins in patients with familial IgA deficiency and common variable immunodeficiency (CVID). Clin Exp Immunol 1997; 108:477-483.
52. Carvalho Neves Forte W, Ferreira De Carvalho Junior F, Damaceno N, et al. Evolution of IgA deficiency to IgG subclass deficiency and common variable immunodeficiency. Allergol Immunopathol (Madr) 2000; 28:18-20.
53. Schaffer FM, Palermos J, Zhu ZB, et al. Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes. Proc Natl Acad Sci USA 1989; 86:8015-8019.
54. 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.
55. 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. This study shows that lack of the B-cell marker CD19 can cause CVID.
56. Salzer U, Chapel HM, Webster ADB, et al. Mutations in TNFRSF13B, which encodes TACI, are associated with common variable immunodeficiency in humans. Nat Genet 2005; 37:820-828.
57. Castigli E, Wilson SA, Garibyan L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005; 37:829-834.
58. Warnatz K, Salzer U, Gutenberger S, et al. Finally found: human BAFF-R deficiency causes CVID. In: XIth Meeting of the European Society for Immunodeficiencies; 21-24 October 2004; Versailles, France. Clin Immunol 2005; 115 (suppl. 1):S20, abstract B.72.
59. 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.
60. Braig DU, Schaeffer AA, Glocker E, et al. Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity. Hum Genet 2003; 112:369-378.
61. Finck A, van der Meer JW, Schaffer AA, et al. Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q. Eur J Hum Genet 2006; 14:867-875.
62. Hutloff A, Dittrich AM, Beier KC, et al. ICOSis an inducible T-cell co-stimulator, structurally and functionally related to CD28. Nature 1999; 397:263-266.
63. Dong C, Juedes AE, Temann UA, et al. ICOS co-stimulatory receptor is essential for T cell activation and function. Nature 2001; 409:97-101.
64. Tafuri A, Shahinian A, Bladt F, et al. ICOS is essential for effective T-helper-cell responses. Nature 2001; 409:105-109.
65. Mak TW, Shahinian A, Yoshinaga SK, et al. Costimulation through the inducible costimulator ligand is essential for both T helper and B cell functions in T cell dependent B cell responses. Nat Immunol 2003; 4:765-772.
66. Nurieva RI, Mai XM, Forbush K, et al. B7h is required for T cell activation, differentiation, and effector function. Proc Natl Acad Sci USA 2003; 100:14163-14168.
67. Salzer U, Maul-Pavicic A, Cunningham-Rundles C, et al. ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol 2004; 113:234-240.
68. 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; 107:3045-3052. This is the first detailed clinical description of human ICOS deficiency.
69. Bossaller L, Burger J, Draeger R, et al. ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. J Immunol 2006; 177:4927-4932. This study shows that the lack of CXCR5+CD4 germinal-centre T-helper cells is a key pathomechanism in human and murine ICOS deficiency.
70. Carter RH, Fearon DT. CD19: lowering the threshold for antigen receptor stimulation of B lymphocytes. Science 1992; 256:105-107.
71. Schneider P, MacKay F, Steiner V, et al. BAFF, a novel ligand of the tumor necrosis factor family, stimulates B cell growth. J Exp Med 1999; 89:1747-1756.
72. O'Connor BP, Raman VS, Erickson LD, et al. BCMA is essential for the survival of long-lived bone marrow plasma cells. J Exp Med 2004; 199:91-98.
73. •] explain how TACI exerts opposing effects on human B-cell function and differentiation.
74. •] explain how TACI exerts opposing effects on human B-cell function and differentiation.
75. Pan-Hammarstrom 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; 39:429-430.
76. Garibyan L, Lobito AA, Siegel RM, et al. Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). J Clin Invest 2007; 117:1550-1557. This study shows a mechanism of how heterozygous TACI mutations result in CVID.
77. 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 (suppl):S525-S553.
78. Thambakkul S, Bellow M. Replacement intravenous immune serum globulin therapy in patients with antibody immune deficiency. Immunol Allergy Clin North Am 2001; 21:165-184.
79. Horn J, Thon V, Bartonkova D, et al. Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy. Clin Immunol 2007; 122:156-162. The most comprehensive analysis of severe anaphylactic side effects to IVIG.
80. Ziegner UH, Kobayashi RH, Cunningham-Rundles C, et al. Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment. Clin Immunol 2002; 102:19-24.
81. Gardulf A, Andersen V, Bjorkander J. Subcutaneous immunoglobulin replacement in patients with primary antibody deficiencies: safety and costs. Lancet 1995; 345:365-369.
82. Radinsky S, Bonagura V. Subcutaneous immunoglobulin infusion as an alternative to intravenous immunoglobulin. J Allergy Clin Immunol 2003; 112:630-633.
83. 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; 27:308-316. This prospective multicentre study analyses 224 CVID patients, the clinical spectrum and the value and effects of immunoglobulin-replacement therapy.
84. Jansen WT, Verel A, Beitsma M, et al. Longitudinal European surveillance study of antibiotic resistance of Haemophilus influenzae. J Antimicrob Chemother 2006; 58:873-877.
85. Riedel S, Beekmann SE, Heilmann KP, et al. Antimicrobial use in Europe and antimicrobial resistance in Streptococcus pneumoniae. Eur J Clin Microbiol Infect Dis 2007; 26:485-490.
86. Johnson DW, Stilwell MG, Fritsche TR, Jones RN. Emergence of multidrug-resistant Streptococcus pneumoniae: report from the SENTRY antimicrobial surveillance program (1999-2003). Diagn Microbiol Infect Dis 2006; 56:69-74.
87. Longhurst HJ, O'Grady C, Evans G, et al. Anti-D immunoglobulin treatment for thrombocytopenia associated with primary antibody deficiency. J Clin Pathol 2002; 55:64-66.
88. El-Shanawany TM, Williams PE, Jolles S. Response of refractory immune thrombocytopenic purpura in a patient with common variable immunodeficiency to treatment with rituximab. J Clin Pathol 2007; 60:715-716.
89. Mahevas M, Le Page L, Salle V, et al. Efficiency of rituximab in the treatment of autoimmune thrombocytopenic purpura associated with common variable immunodeficiency. Am J Hematol 2006; 81:645-646.
90. Nos P, Bastida G, Beltran B, et al. Crohn's disease in common variable immunodeficiency: treatment with antitumor necrosis factor alpha. Am J Gastroenterol 2006; 101:2165-2166.
91. Hatab AZ, Ballas ZK. Caseating granulomatous disease in common variable immunodeficiency treated with infliximab. J Allergy Clin Immunol 2005; 116:1161-1162.
92. Monto AS, Napier JA, Metzner HL. The Tecumseh study of respiratory illness. I. Plan of study and observations on syndromes of acute respiratory disease. Am J Epidemiol 1971; 94:269-279.
93. Fleming DW, Cochi SL, Hightower AW, Broome CV. Childhood upper respiratory tract infections: to what degree is incidence affected by day-care attendance? Pedriatics 1987; 79:55-60.