Screening of functional and positional candidate genes in families with common variable immunodeficiency

BMC Immunology

Volumn 9, Issue , 2008, Pages

  Salzer, Ulrich ^a   Neumann, Carla ^a   Thiel, Jens ^a   Woellner, Cristina ^a   Pan Hammarström, Qiang ^b   Lougaris, Vassilis ^c   Hagena, Tina ^a   Jung, Johannes ^a   Birmelin, Jennifer ^d   Du, Likun ^b   Metin, Ayse ^e   Webster, David A ^d   Plebani, Alessandro ^c   Moschese, Viviana ^f   Hammarström, Lennart ^b   Schäffer, Alejandro A ^g   Grimbacher, Bodo ^a,d  

^a UNIVERSITY OF FREIBURG   (Germany)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF BRESCIA   (Italy)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e SB Ankara Diskapi Children's Hospital   (Turkey)

^f TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^g NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APRIL PROTEIN; B CELL MATURATION ANTIGEN; CHEMOKINE; CHEMOKINE CCL18; INTERLEUKIN 10; INTERLEUKIN 10 RECEPTOR ALPHA; INTERLEUKIN 10 RECEPTOR BETA; INTERLEUKIN 21; INTERLEUKIN 21 RECEPTOR; UNCLASSIFIED DRUG; BETA CHEMOKINE; CCL18 PROTEIN, HUMAN; INTERLEUKIN DERIVATIVE; TNFRSF17 PROTEIN, HUMAN; TNFSF13 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; COHORT ANALYSIS; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; GENE AMPLIFICATION; GENE FREQUENCY; GENE LOCATION; GENE LOCUS; GENE SEGREGATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; FAMILY; FEMALE; GENETICS; MALE; PEDIGREE;

B-CELL MATURATION ANTIGEN; CHEMOKINES, CC; COMMON VARIABLE IMMUNODEFICIENCY; FAMILY; FEMALE; GENETIC SCREENING; HUMANS; INTERLEUKIN-10; INTERLEUKIN-10 RECEPTOR ALPHA SUBUNIT; INTERLEUKINS; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, INTERLEUKIN-21; TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY MEMBER 13;

EID: 41149164360     PISSN: None     EISSN: 14712172     Source Type: Journal    
DOI: 10.1186/1471-2172-9-3     Document Type: Article

References (37)

1. IUIS Primary immunodeficiency diseases. Report of an IUIS Scientific committee. International Union of Immunological Societies Clin Exp Immunol 1999 118 suppl 1 1 28 1905383 10540200
2. Hermaszewski RA Webster ADA: Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications. Q J Med 1993, 86:31-42. 8438047
3. Cunningham-Rundles C Bodian C: Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999, 92:34-48. 10.1006/clim.1999.4725 10413651
4. Hammarström L Vořechovský I Webster D: Selective IgA deficiency (SIgAD) and common variable immundeficiency (CVID). Clin Exp Immunol 2000, 120:225-231. 1905641 10792368 10.1046/ j.1365-2249.2000.01131.x
5. Vořechovský I Zetterquist H Paganelli R Koskinen S Webster ADB Björkander J Smith CI Hammarstrom L; Family and linkage study of selective IgA deficiency and common variable immunodeficiency. Clin Immunol Immunopathol 1995, 77:185-192. 10.1006/clin.1995.1142 7586726
6. Burrows PD Cooper MD: IgA deficiency. Adv Immunol 1997, 65:245-276. 9238511
7. Schaffer FM Palermos J Zhu ZB Barger BO Cooper MD Volanakis JE; 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. 298204 2573059 10.1073/ pnas.86.20.8015
8. Carvalho Neves Forte W Ferreira De Carvalho Junior F Damaceno N Vidal Perez F Gonzales Lopes C Mastroti RA: Evolution of IgA deficiency to IgG subclass deficiency and common variable immunodeficiency. Allergol Immunopathol 2000, 28:18-20.
9. Vořechovský I Webster ADB 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 1999, 64:1096-1109. 1377834 10090895 10.1086/302326
10. Kralovicova J Hammarström L Plebani A Webster ADB Vorechovsky I: 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, 170:2765-2775. 12594308
11. Schäffer AA Pfannstiel J Webster ADB Plebani A Hammarström L Grimbacher B: Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q. Hum Genet 2006, 118:725-729. 1385708 16328471 10.1007/s00439-005-0101-1
12. Finck A Van der Meer JWM Schäffer AA Pfannstiel J Fieschi C Plebani A Webster AD Hammarstrom L Grimbacher B: Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q. Eur J Hum Genet 2006, 14:867-875. 10.1038/sj.ejhg.5201634 16639407
13. Grimbacher B Hutloff A Schlesier M Glocker E Warnatz K Dräger R Eibel H Fischer B Schäffer AA Mages HW Kroczek RA Peter HH: Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 2003, 4:261-268. 10.1038/ni902 12577056
14. Warnatz K Bossaller L Salzer U Skrabl-Baumgartner A Schwinger W van der Burg M van Dongen JJ Orlowska-Volk M Knoth R Durandy A Draeger R Schlesier M Peter HH Grimbacher B: Human ICOS-deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. Blood 2006, 107:3045-3052. 10.1182/ blood-2005-07-2955 16384931
15. Salzer U Chapel HM Webster ADB Pan-Hammarström Q Schmitt-Graeff A Schlesier M Peter HH Rockstroh JK Schneider P Schäffer AA Hammarström L Grimbacher B: Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005, 37:820-828. 10.1038/ng1600 16007087
16. Castigli E Wilson SA Garibyan L Rachid R Bonilla F Schneider L Geha RS: TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005, 37:829-834., 10.1038/ng1601 16007086
17. van Zelm MC Reisli I van der Burg M Castaño D van Noesel CJM van Tol MJD Woellner C Grimbacher B Patino PJ van Dongen JJ Franco JL: antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med 2006, 354:1901-1912. 10.1056/NEJMoa051568 16672701
18. Zhang L Radigan L Salzer U Behrens TW Grimbacher B Diaz G Bussel J Cunningham-Rundles C: Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: Clinical and immunologic outcomes in heterozygotes. J Allergy Clin Immunol 2007, 120:1178-1185. 10.1016/j.jaci.2007.10.001 17983875
19. O'Connor BP Raman VS Erickson LD Cook WJ Weaver LK Ahonen C Lin LL Mantchev GT Bram RJ Noelle RJ: BCMA is essential for the survival of long-lived bone marrow plasma cells. J Exp Med 2004, 199:91-98. 10.1084/ jem.20031330 14707116 1887725
20. Artus U Herbst EW Rump JA Peter HH: Defekte der immunoglobulinbildenden Zellen in Knochenmark von Patienten mit variablem Immundefektsyndrom. Immun Infekt 1995, 23:69-71. 7744431
21. Castigli E Wilson SA Scott S Dedeoglu F Xu S Lam KP Bram RJ Jabara H Geha RS: TACI and BAFF-R mediate isotype switching in B cells. J Exp Med 2005, 201:35-39. 10.1084/jem.20032000 15630136 2212754
22. Castigli E Scott S Dedeoglu F Bryce P Jabara H Bhan AK Mizoguchi E Geha RS; Impaired IgA class switching in APRIL-deficient mice. Proc Natl Acad Sci USA 2004, 101:3903-3908. 374342 14988498 10.1073/pnas.0307348101
23. Ma CS Hare NJ Nichols KE Dupré L Andolfi G Roncarolo MG Adelstein S Hodgkin PD Tangye SG: Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells. J Clin Invest 2005, 115:1049-59. 1059448 15761493 10.1172/JCI200523139
24. Holm AM Aukrust P Aandahl EM Müller F Taskén K Froland SS: Impaired secretion of IL-10 by T cells from patients with common variable immunodeficiency - involvement of protein kinase A type I. J Immunol 2003, 170:5772-5777. 12759461
25. Mehta DS Wurster AL Whitters MJ Young DA Collins M: Grusby MJ IL-21 induces the apoptosis of resting and activated primary B cells. J Immunol 2003, 170:4111-4118. 12682241
26. Ozaki K Spolski R Feng CG Qi CF Cheng J Sher A Morse HC 3rd Liu C Schwartzberg PL Leonard WJ: A critical role for IL-21 in regulating immunoglobulin production. Science 2002, 298:1630-1634. 10.1126/ science.1077002 12446913
27. Ettinger R Sims GP Fairhurst AM Robbins R da Silva YS Spolski R Leonard WJ Lipsky PE: IL-21 induces differentiation of human naive and memory B cells into antibody-secreting plasma cells. J Immunol 2005, 175:7867-7879. 16339522
28. Lindhout E Vissers JLM Hartgers FC Huijbens RJF Scharenborg NM Figdor CG Adema GJ: The dendritic cell-specific CC-chemokine DC-CK1 is expressed by germinal center dendritic cells and attracts CD38-negative mantle zone B lymphocytes. J Immunol 2001, 166:3284-3289. 11207283
29. Ng PC Henikoff S: Predicting deleterious amino acid substitutions. Genome Res 2001, 11:863-874. 311071 11337480 10.1101/gr.176601
30. Ramensky V Bork P SunSaev S: Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002, 30:3894-3900. 137415 12202775 10.1093/ nar/gkf493
31. Warnatz K Salzer U Gutenberger S Bossaller L Schlesier M Grimbacher B; Finally found: Human BAFF-R Deficiency causes CVID. XIth Meeting for the European Society for Immunodeficiencies 2004 (Abstr. B. 72)
32. Salzer U Maul-Pavicic A Cunningham-Rundles C Urschel S Belohradsky BH Litzman J Holm A Franco JL Plebani A Hammarstrom L Skrabl A Schwinger W Grimbacher B: ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol 2004, 113:234-240. 10.1016/ j.clim.2004.07.002 15507387
33. Losi CG Salzer U Gatta R Lougaris V Cattaneo G Meini A Soresina A Grimbacher B Plebani A: Mutational Analysis of Human BLyS in Patients with Common Variable Immunodeficiency. J Clin Immunol 2006, 26:396-369. 10.1007/s10875-006-9026-2 16838132
34. Vořechovský I Cullen M Carrington M Hammarström L Webster ADB: 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. 10754342
35. Lathrop GM Lalouel JM Julier C Ott J: Strategies for multilocus analysis in humans. Proc Natl Acad Sci USA 1984, 81:3443-3446. 345524 6587361 10.1073/pnas.81.11.3443
36. Cottingham RW Jr Idury RM Schäffer AA: Faster sequential genetic linkage computations. Am J Hum Genet 1993, 53:252-263. 1682239 8317490
37. Schäffer AA Gupta SK Shriram K Cottingham RW Jr: Avoiding recomputation in linkage analysis. Hum Hered 1994, 44:225-237. 8056435