Primary immune deficiency disorders in the South Pacific: The clinical utility of a customized genetic testing program in New Zealand

Annals of the New York Academy of Sciences

Volumn 1238, Issue 1, 2011, Pages 53-64

  Ameratunga, Rohan ^a,b   Woon, See Tarn ^b   Brewerton, Maia ^a,b   Koopmans, Wikke ^b   Jordan, Anthony ^a   Brothers, Shannon ^b,c   Singh, Ranjeeta ^b  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b AUCKLAND CITY HOSPITAL   (New Zealand)

^c STARSHIP CHILDREN S HOSPITAL   (New Zealand)

Author keywords

Customized testing; New Zealand; PID

Indexed keywords

CELL FUNCTION; DISEASE CLASSIFICATION; EARLY DIAGNOSIS; FAMILY HISTORY; GENE THERAPY; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; HEALTH CARE UTILIZATION; HEALTH SERVICE; HUMAN; IMMUNE DEFICIENCY; NEW ZEALAND; PRENATAL DIAGNOSIS; PRIMARY IMMUNE DEFICIENCY DISORDER; PROGNOSIS; REVIEW;

EID: 82555179331     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2011.06238.x     Document Type: Review

References (54)

1. Bruton, O. 1952. Agammaglobulinemia. Pediatrics 9: 722-728.
2. Maródi, L. & L. Notarangelo. 2007. Immunological and genetic bases of new primary immunodeficiencies. Nat. Rev. Immunol. 7: 851-861.
3. Geha, R. et al. 2007. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J. Allergy Clin. Immunol. 120: 776-794.
4. Notarangelo, L.D. et al. 2007. Genetic causes of bronchiectasis: primary immune deficiencies and the lung. Respiration 74: 264-275.
5. Paul, M.E. 2002. Diagnosis of immunodeficiency: clinical clues and diagnostic tests. Curr. Allergy Asthma Rep. 2: 349-355.
6. Fleisher, T.A. & J.B. Oliveira. 2009. Functional flow cytometry testing: an emerging approach for the evaluation of genetic disease. Clin. Chem. 55: 389-390.
7. Ameratunga, R. et al. 2009. Cellular and Molecular Characterisation of the Hyper Immunoglobulin M Syndrome Associated with Congenital Rubella Infection. J. Clin. Immunol. 29: 99-106.
8. Ameratunga, R. & S.T. Woon. 2009. Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: an efficient strategy for a small developed country. N.Z. Med. J. 122: 46-53.
9. Ameratunga, R. et al. 2010. The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review. Allergy Asthma Clin. Immunol. 6: 12-20.
10. Morra, M. et al. 2008. Genetic diagnosis of primary immune deficiencies. Immunol. Allergy Clin. North Am. 28: 387-412.
11. Taylor, S. et al. 2008. Investigating genetic discrimination in Australia: a large-scale survey of clinical genetics clients. Clin. Genet. 74: 20-30.
12. NHGRI. 2010. Genetic discrimination. Accessed 24 August 2011. Available from:.
13. Borry, P. et al. 2006. Carrier testing in minors: a systematic review of guidelines and position papers. Eur. J. Hum. Genet. 14: 133-138.
14. Borry, P. et al. 2006. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin. Genet. 70: 374-381.
15. van Oostrom, I. et al. 2007. A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships. Psychooncology 16: 320-328.
16. Ameratunga, R. et al. 1996. Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand. Clin. Diagn. Lab. Immunol. 3: 722-726.
17. Ramesh, N. et al. 1993. Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1). Int. Immunol. 5: 769-773.
18. Villa, A. et al. 1994. Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Proc. Natl. Acad. Sci. U.S.A. 91: 2110-2114.
19. Brugnoni, D. et al. 1994. Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn. Eur. J. Immunol. 24: 1919-1924.
20. Tabata, Y. et al. 2005. Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Blood 105: 3066-3071.
21. Woon, S.-T. et al. 2008. Follicular lymphoma in a X-linked lymphoproliferative syndrome carrier female. Scan. J. Immunol. 68: 153-158.
22. Siddiqui, S. et al. 2007. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin. Infect. Dis. 45: 673-681.
23. Ameratunga, R. et al. 2010. Fulminant mulch pneumonitis in undiagnosed chronic granulomatous disease: a medical emergency. Clin. Pediatr. (Phila). 49: 1143-1146.
24. Villa, A. et al. 1995. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat. Genet. 9: 414-417.
25. Assari, T. 2006. Chronic Granulomatous Disease; fundamental stages in our understanding of CGD. Med. Immunol. 5: 4.
26. Matute, J.D. et al. 2009. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood 114: 3309-3315.
27. Fu, J.L. et al. 1999. X-linked agammaglobulinemia presenting as juvenile chronic arthritis: report of one case. Acta. Paediatr. Taiwan 40: 280-283.
28. Kaneko, H. et al. 2005. Leaky phenotype of X-linked agammaglobulinaemia in a Japanese family. Clin. Exp. Immunol. 140: 520-523.
29. Zhu, Q. et al. 1997. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 90: 2680-2689.
30. Farkas, H. et al. 2007. Management of hereditary angioedema in pediatric patients. Pediatrics 120: e713-e722.
31. Roche, O. et al. 2005. Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. Hum. Mutat. 26: 135-144.
32. Duponchel, C. et al. 2001. Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients. Hum. Mutat. 17: 61-70.
33. Verlinsky, Y. et al. 2007. Preimplantation diagnosis for immunodeficiencies. Reprod. Biomed. Online 14: 214-223.
34. Sokolic, R., C. Kesserwan, & F. Candotti. 2008. Recent advances in gene therapy for severe congenital immunodeficiency diseases. Curr. Opin. Hematol. 15: 375-380.
35. Santilli, G. et al. 2008. Gene therapy of inherited immunodeficiencies. Expert Opin. Biol. Ther. 8: 397-407.
36. Ameratunga, R., D.M. Becroft, & W. Hunter. 2000. The simultaneous presentation of sarcoidosis and common variable immune deficiency. Pathology 32: 280-282.
37. Warnatz, K. et al. 2004. Finally found: human BAFF-R deficiency causes CVID. In: XIth Meeting of the European Society for Immunodeficiencies. Abstract #B. 72. 21-24 October 2004. Versailles.
38. Salzer, U. et al. 2005. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat. Genet. 37: 820-828.
39. Grimbacher, B. et al. 2003. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat. Immunol. 4: 261-268.
40. van Zelm, M.C. et al. 2010. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J. Clin. Invest. 120: 1265-1274.
41. Kuijpers, T.W. et al. 2010. CD20 deficiency in humans results in impaired T cell-independent antibody responses. J. Clin. Invest. 120: 214-222.
42. van Zelm, M. et al. 2006. An antibody-deficiency syndrome due to mutations in the CD19 gene. N. Engl. J. Med. 354: 1901-1912.
43. Chapel, H. & C. Cunningham-Rundles. 2009. Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br. J. Haematol. 145: 709-727.
44. Vossen, R.H. et al. 2010. High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis. Hum. Mutat. 31: E1286-E1293.
45. Choi, M. et al. 2009. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl. Acad. Sci. U.S.A. 106: 19096-19101.
46. Ameratunga, R. et al. 1998. Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. J. Immunol. 160: 2824-2830.
47. Puck, J.M. 2007. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J. Allergy Clin. Immunol. 120: 760-768.
48. Baker, M.W. et al. 2009. Development of a routine newborn screening protocol for severe combined immunodeficiency. J. Allergy Clin. Immunol. 124: 522-527.
49. Smith, J. et al. 2004. Lamotrigine-induced common variable immune deficiency. Neurology 62: 833-834.
50. Chen, B. et al. 2009. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm. Rep. 58: 1-37; quiz CE-1-4.
51. Port, W. 2009. Maori culture and genetic testing. MAJI 3: 1-11.
52. Du Plessis, R. et al. 2005. The social, cultural, ethical and spiritual implications of genetic testing. Research report 3. Accessed September 2011. Available from:.
53. Kaye, J. et al. 2010. Ethical implications of the use of whole genome methods in medical research. Eur. J. Hum. Genet. 18: 398-403.
54. Orange, J.S. et al. 2011. Genome-wide association identifies diverse causes of common variable immunodeficiency. J. Allergy Clin. Immunol. 127: 1360-1367.