Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency

International Archives of Allergy and Immunology

Volumn 147, Issue 2, 2008, Pages 147-151

  Salzer, Ulrich ^a   Hagena, Tina ^a   Webster, David B ^b   Grimbacher, Bodo ^b  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Common variable immunodeficiency; Immunodeficiency; X linked lymphoproliferative syndrome; XIAP

Indexed keywords

SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; X LINKED INHIBITOR OF APOPTOSIS;

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; EXON; GENE FREQUENCY; GENE MUTATION; HUMAN; IMMUNOGLOBULIN G DEFICIENCY; LYMPHOPROLIFERATIVE DISEASE; MALE; PREVALENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPLENOMEGALY; X CHROMOSOME LINKED DISORDER;

ADULT; AGED; AGED, 80 AND OVER; COMMON VARIABLE IMMUNODEFICIENCY; HUMANS; IMMUNOGLOBULIN G; LYMPHOPROLIFERATIVE DISORDERS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; X-LINKED INHIBITOR OF APOPTOSIS PROTEIN;

EID: 51849116502     PISSN: 10182438     EISSN: None     Source Type: Journal    
DOI: 10.1159/000135702     Document Type: Article

References (28)

1. Cunningham-Rundles C, Bodian C: Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999;92:34-48.
2. Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Drager R, Eibel H, Fischer B, Schaffer 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.
3. Salzer U, Chapel HM, Webster AD, Pan-Hammarstrom Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schaffer AA, Hammarstrom L, Grimbacher B: Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005;37:820-828.
4. 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.
5. van Zelm MC, Reisli I, van der Burg M, Castano D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patino PJ, van Dongen JJ, Franco JL: An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med 2006;354:1901-1912.
6. Weston SA, Prasad ML, Mullighan CG, Chapel H, Benson EM: Assessment of male CVID patients for mutations in the Btk gene: how many have been misdiagnosed? Clin Exp Immunol 2001;124:465-469.
7. Soresina A, Lougaris V, Giliani S, Cardinale F, Armenio L, Cattalini M, Notarangelo LD, Plebani A: Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency. Eur J Pediatr 2002;161:656-659.
8. Eastwood D, Gilmour KC, Nistala K, Meaney C, Chapel H, Sherrell Z, Webster AD, Davies EG, Jones A, Gaspar HB: Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. Clin Exp Immunol 2004;137:584-588.
9. Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, van Schaik S, Notarangelo L, Geha R, Roncarolo MG, Oettgen H, De Vries JE, Aversa G, Terhorst C: The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 1998;395:462-469.
10. Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis JR, Webster D, Harris A, Lenoir G, de St Basile G, Jones A, Behloradsky BH, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR: Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet 1998;20:129-135.
11. Nichols KE, Harkin DP, Levitz S, Krainer M, Kolquist KA, Genovese C, Bernard A, Ferguson M, Zuo L, Snyder E, Buckler AJ, Wise C, Ashley J, Lovett M, Valentine MB, Look AT, Gerald W, Housman DE, Haber DA: Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc Natl Acad Sci USA 1998;95:13765-13770.
12. Veillette A: Immune regulation by SLAM family receptors and SAP-related adaptors. Nat Rev Immunol 2006;6:56-66.
13. Sharifi R, Sinclair JC, Gilmour KC, Arkwright PD, Kinnon C, Thrasher AJ, Gaspar HB: SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease. Blood 2004;103:3821-3827.
14. Bottino C, Falco M, Parolini S, Marcenaro E, Augugliaro R, Sivori S, Landi E, Biassoni R, Notarangelo LD, Moretta L, Moretta A: NTB-A, a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease. J Exp Med 2001;194:235-246.
15. Nichols KE, Hom J, Gong SY, Ganguly A, Ma CS, Cannons JL, Tangye SG, Schwartzberg PL, Koretzky GA, Stein PL: Regulation of NKT cell development by SAP, the protein defective in XLP. Nat Med 2005;11:340-345.
16. Pasquier B, Yin L, Fondaneche MC, Relouzat F, Bloch-Queyrat C, Lambert N, Fischer A, de Saint-Basile G, Latour S: 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.
17. Morra M, Silander O, Calpe S, Choi M, Oettgen H, Myers L, Etzioni A, Buckley R, Terhorst C: Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. Blood 2001;98:1321-1325.
18. Nistala K, Gilmour KC, Cranston T, Davies EG, Goldblatt D, Gaspar HB, Jones AM: X-linked lymphoproliferative disease: three atypical cases. Clin Exp Immunol 2001;126:126-130.
19. Aghamohammadi A, Kanegane H, Moein M, Farhoudi A, Pourpak Z, Movahedi M, Gharagozlou M, Zargar AA, Miyawaki T: Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency. Int J Hematol 2003;78:45-47.
20. Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S: XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006;444:110-114.
21. Conley ME, Notarangelo LD, Etzioni A: Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999;93:190-197.
22. Primary immunodeficiency diseases. Report of an IUIS Scientific committee. International Union of Immunological Societies. Clin Exp Immunol 1999;118(suppl 1):1-28.
23. Ma CS, Hare NJ, Nichols KE, Dupre 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;115:1049-1059.
24. 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.
25. Ma CS, Pittaluga S, Avery DT, Hare NJ, Maric I, Klion AD, Nichols KE, Tangye SG: Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotypeswitched, memory B cells in X-linked lymphoproliferative disease. J Clin Invest 2006;116:322-333.
26. Brouet JC, Chedeville A, Fermand JP, Royer B: Study of the B cell memory compartment in common variable immunodeficiency. Eur J Immunol 2000;30:2516-2520.
27. Agematsu K, Futatani T, Hokibara S, Kobayashi N, Takamoto M, Tsukada S, Suzuki H, Koyasu S, Miyawaki T, Sugane K, Komiyama A, Ochs HD: Absence of memory B cells in patients with common variable immunodeficiency. Clin Immunol 2002;103:34-42.
28. -) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 2002;99:1544-1551.