Common variable immunodeficiency: 20-yr experience at a single centre

Pediatric Allergy and Immunology

Volumn 20, Issue 2, 2009, Pages 113-118

  Llobet, M Pilar ^a   Soler Palacin, Pere ^a   Detkova, Drahomira ^a   Hernández, Manuel ^a   Caragol, Isabel ^a   Espanol, Teresa ^a  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Common variable immunodeficiency; Gammaglobulin therapy; Hypogammaglobulinaemia; Memory B cells

Indexed keywords

IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ADOLESCENT; ADULT; ARTICLE; BRONCHIECTASIS; CHILD; CLINICAL ARTICLE; COMMON VARIABLE IMMUNODEFICIENCY; CONCENTRATION (PARAMETERS); DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; FAMILIAL INCIDENCE; FEMALE; GASTROINTESTINAL INFECTION; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; MALABSORPTION; MALE; MEMORY CELL; POPULATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; RESPIRATORY TRACT INFECTION; SCHOOL CHILD;

ADOLESCENT; ANTIGENS, CD19; ANTIGENS, CD27; AUTOIMMUNE DISEASES; B-LYMPHOCYTE SUBSETS; BACTERIAL INFECTIONS; BRONCHIECTASIS; CHILD; CHILD, PRESCHOOL; COMMON VARIABLE IMMUNODEFICIENCY; CROSS-SECTIONAL STUDIES; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOGLOBULINS; IMMUNOLOGIC MEMORY; IMMUNOPHENOTYPING; INFANT; MALE; PEDIGREE; PROGNOSIS;

EID: 63149147362     PISSN: 09056157     EISSN: 13993038     Source Type: Journal    
DOI: 10.1111/j.1399-3038.2008.00744.x     Document Type: Article

References (41)

1. Notarangelo LD, Casanova JL, Conley ME, et al. An update from the International Union of Immunological Societies Primary Immunodeficiency diseases classification committee. J Allergy Clin Immunol 2006 : 117 : 883 96.
2. Cunningham-Rundles C, Ponda PP. Molecular defects in T- and B-cell primary immunodeficiency diseases. Nat Rev Immunol 2005 : 5 : 880 92.
3. Bonilla FA, Bernstein I, Khan D, et al. Practice parameter for diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005 : 94 : S1 63.
4. Finocchi A, Angelini F, Chini L, et al. Evaluation of the relevance of humoral immunodeficiencies in a pediatric population affected by recurrent infections. Pediatr Allergy Immunol 2002 : 13 : 443 7.
5. Hammarstrom L, Vorechovsky I, Weber D. Selective IgA deficiency (SIgAD) and common variable immunodeficiency. J Exp Immunol 2000 : 120 : 225 31.
6. Cunningham-Rundles C, Bodian C. CVID: clinical and immunological features of 248 patients. Clin Immunol 1999 : 92 : 34 48.
7. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for PID. Clin Immunol 1999 : 93 : 190 7.
8. Busse PJ, Razvi S, Cunningham-Rundles C. Efficacy of the intravenous immunoglobulin in the prevention of pneumonia inpatients with common variable immunodeficiency. Clin Immunol 2002 : 109 : 1001 4.
9. de Gracia J, Vendrell M, Alvarez A, et al. Immunoglobulin therapy to control lung damage in patients with common variable immunodeficiency. Int Immunopharmacol 2004 : 4 : 745 53.
10. Warnatz K, Denz A, Drager R, Braun M, Groth C, Wolff-Vorbeck G. Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-) in subgroups of patients with CVID: a new approach to classify a heterogeneous disease. Blood 2002 : 99 : 1544 51.
11. Piqueras B, Lavenu-Bombled C, Galicier L, et al. CVID patient classification based on impaired B cell memory correlates with clinical aspects. J Clin Immunology 2003 : 23 : 385 90.
12. Detkova D, de Gracia J, Lopes-da-Silva S, et al. Common variable immunodeficiency: association between memory B cells and lung diseases. Chest 2007 : 131 : 1883 9.
13. Ferry BL, Jones J, Bateman EA, et al. Measurement of peripheral B cells subpopulations in CVID using a whole blood method. Clin Exp Immunol 2005 : 140 : 532 9.
14. Carsetti R, Rosado MM, Donnanno S, Guazzi V, Soresina A, Meini A. The loss of IgM memory B cells correlates with clinical disease in CVID. J Clin Immunol 2005 : 115 : 412 7.
15. Alackar H, Taubenheim N, Haeney MR, Durandy A, Arkwright PD. Memory switched memory B cell percentage and not serum immunoglobulin concentration is associated with clinical complications in children and adults with specific antibody deficiency and common variable immunodeficiency. J Clin Immunol 2006 : 120 : 310 8.
16. Moschese V, Carsetti R, Graziani S, et al. Memory B-cell subsets as a predictive marker of outcome in hypogammaglobulinemia during infancy. J Allergy Clin Immunol 2007 : 120 : 474 6.
17. Salzer U, Chapel HM, Webster ADB, et al. Mutations in the TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005 : 37 : 820 8.
18. Castigli E, Wilson SA, Garibyan L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005 : 37 : 829 34.
19. Castigli E, Wilson S, Garibyan L, et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 2007 : 39 : 430 1.
20. 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 30.
21. Matamoros N, Mila J, Español T, Raga S, Fontan G. Primary Immunodeficiency Syndrome in Spain: first report of the national registry in children and adults. J Clin Immunol 1997 : 17 : 333 9.
22. Rudge P, Webster ADB, Revesz T, et al. Encephalomyelitis in primary hypogammablobulinaemia. Brain 1996 : 119 : 1 15.
23. Levy J, Español-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P. Clinical spectrum of X-linked hyper-IgM syndrome. J.Pediatr 1997 : 131 : 47 54.
24. Durandy A, Wahn V, Petteway S, Gelfand EW. Immunoglobulin Replacement Therapy in Primary Antibody Deficiency diseases-Maximizing success. Int Arch Allergy Immunol 2005 : 136 : 217 29.
25. Gaspar HB, Ferrando M, Caragol I, et al. Kinase mutant Btk results in atypical X-linked agammaglobulinemia phenotype. Clin Exp Immunol 2000 : 120 : 346 50.
26. Weston SA, Prasad ML, Mulligan CG, Chapel H, Benson EM. Assesment of male CVID patients for mutations in the Btk gene: how many have been misdiagnosticated? Clin Exp Immunol 2001 : 124 : 465 9.
27. Durandy A, Honjo T. Human genetic defects in class-switch recombination (Hyper IgM syndromes). Curr Opin Immunol 2001 : 13 : 543 8.
28. Soresina A, Lougaris V, Giliani S, et al. Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking CVID. Eur J Pediatr 2002 : 161 : 656 9.
29. MacGinnities AJ, Geha R. X-linked lymphoproliferative disease: genetic lessons and clinical consequences. Curr Allergy Asthma Rep 2002 : 2 : 361 7.
30. Whelan MA, Hwan WH, Beausoleil J, Hauck WW, McGeady SJ. Infants presenting with recurrent infections and low immunoglobulins: characteristics and analysis of normalization. J Clin Immunol 2006 : 26 : 7 11.
31. Ogershok PA, Hogan MB, Welch JE, Corder T, Wilson NW. Spectrum of illness in pediatric common variable immunodeficiency. Ann Allergy Asthma Immunol 2006 : 97 : 653 6.
32. Espanol T, Catala M, Hernandez M, Caragol I, Bertran JM. Development of CVID in IgA-deficient patients. Clin Immunol Immunopathol 1996 : 3 : 333 5.
33. Hermans PE, Diez-Buxo JA, Stobo JD. Idiopathic late-onset immunoglobulin deficiency: clinical observations in 50 patients. Am J Med 1976 : 61 : 221 37.
34. Geha RS, Scheneeberger E, Merler E, Rosen FS. Heterogeneity of "acquired" or common variable agammaglobulinemia. N Engl J Med 1974 : 291 : 1 6.
35. Hausser C, Virelizier JL, Buriot D, Griscelli C. Common variable hypogammaglobulinemia in children. Am J Dis Child 1983 : 137 : 833 7.
36. Conley ME, Park L, Douglas SD. Childhood common variable immunodeficiency with autoimmune disease. J Pediatr 1986 : 108 : 915 22.
37. Yarmohammadi H, Estrella L, Doucette J, Cunningham-Rundles C. Recognizing Primary Immune Deficiency in clinical practice. Clin Vaccine Immunol 2006 : 13 : 329 32.
38. de Vries E. Clinical Working Party of the European Society for Immunodeficiencies (ESID). Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin Exp Immunol 2006 : 145 : 204 14.
39. Sewell WAC, Khan S, Dore PC. Early indicators of immunodeficiency in adults and children: protocols for screening for primary immunological defects. Clin Exp Immunol 2006 : 145 : 201 3.
40. Vorechovsky I, Zetterquist H, Paganelli R, et al. Family and linkage study of selective IgAD and CVID. Clin Immunol Immunopathol 1995 : 77 : 185 92.
41. Nijenhuis T, Klasen I, Weemaes CM, Preijers F, de Vries E, van der Meer JW. CVID in a family: an autosomal dominant mode of inheritance. Neth J Med 2001 : 59 : 134 9.