Is it necessary to identify molecular defects in primary immunodeficiency disease?

Journal of Allergy and Clinical Immunology

Volumn 122, Issue 6, 2008, Pages 1069-1073

  Notarangelo, Luigi D ^a   Sorensen, Ricardo ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b CHILDREN S HOSPITAL   (United States)

Author keywords

carrier detection; gene; mutation analysis; prenatal diagnosis; Primary immunodeficiency

Indexed keywords

DIHYDRORHODAMINE 123; ELASTASE; INTERLEUKIN 1 RECEPTOR ASSOCIATED KINASE 4; LIGASE; LIGASE 4; PROTEIN RMRP; RAG1 PROTEIN; RAG2 PROTEIN; RIBONUCLEOPROTEIN; RNA; UNCLASSIFIED DRUG; WISKOTT ALDRICH SYNDROME PROTEIN;

ARTICLE; DIAGNOSTIC PROCEDURE; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOTE DETECTION; HUMAN; IMMUNE DEFICIENCY; IMMUNOASSAY; LINKAGE ANALYSIS; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION;

DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; PROTEIN BIOSYNTHESIS; RNA;

EID: 57149138835     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2008.08.038     Document Type: Article

References (19)

1. Geha R.S., Notarangelo L.D., Casanova J.L., Chapel H., Conley M.E., Fischer A., et al. International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120 (2007) 776-794
2. Kinnon C., and Gaspar H.B. Genetics of inherited immunodeficiency diseases and diagnostic techniques. In: Cunningham-Rundles C. (Ed). Manual of clinical laboratory immunology. 6th ed. (2002), American Society for Microbiology, Washington (DC) 810-818
3. Oliveira J.B., Notarangelo L.D., and Fleisher T.A. Applications of flow cytometry for the study of primary immune deficiencies. Curr Opin Allergy Clin Immunol (2008) In press
4. Brugnoni D., Airò P., Graf D., Marconi M., Molinari C., Braga D., et al. Ontogeny of CD40L expression by activated peripheral blood lymphocytes in humans. [erratum published in Immunol Lett 1996;52:61]. Immunol Lett 49 (1996) 27-30
5. Villa A., Marrella V., Rucci F., and Notarangelo L.D. Genetically determined lymphopenia and autoimmune manifestations. Curr Opin Immunol 20 (2008) 318-324
6. Schuetz C., Huck K., Gudowius S., Megahed M., Feyen O., Hubner B., et al. An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med 358 (2008) 2030-2038
7. Jin Y., Mazza C., Christie J.R., Giliani S., Fiorini M., Mella P., et al. Mutations of the Wiskott-Aldrich syndrome protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 104 (2004) 4010-4019
8. Jordan M.B., and Filipovich A.H. Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) step. Bone Marrow Transplant (2008) [Epub ahead of print]
9. Lebet T., Chiles R., Hsu A.P., Mansfield E.S., Warrington J.A., and Puck J.M. Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med 10 (2008) 575-585
10. Conley M.E., Notarangelo L.D., and Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 93 (1999) 190-197
11. Matthijs G. Patenting Genes. BMJ 329 (2004) 1358-1360
12. Bashyam H Outgrowing IRAK. J Exp Med 204 (2007) 2242
13. Pan-Hammarström Q., Salzer U., Du L., Björkander J., Cunningham-Rundles C., Nelson D.L., et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 39 (2007) 429-430
14. Gaspar H., Sharifi R., Gilmour K., and Thrasher A. X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective. Br J Haematol 119 (2002) 585-595
15. Hatchwell E., and Greally J. The potential role of epigenomic dysregulation in complex human disease. Trends Genet 23 (2007) 588-595
16. Holliday R. Epigenetics: a historical overview. Epigenetics 1 (2006) 76-80
17. Genetic Information Nondiscrimination Act, Public Law No. 110-233; 2008.
18. Hacein-Bey-Abina S., Garrigue A., Wang G., Soulier J., Lim A., Morillon E., et al. Insertional oncogenesis in four patients after retrovirus-mediated gene therapy of SCID X1. J Clin Invest 118 (2008) 3132-3142
19. Fleisher T.A., and Notarangelo L.D. What does it take to call it a pathogenic mutation?. Clin Immunol 128 (2008) 285-286