Bioinformatics services related to diagnosis of primary immunodeficiencies

Current Opinion in Allergy and Clinical Immunology

Volumn 9, Issue 6, 2009, Pages 531-536

  Samarghitean, Crina ^a,b   Vihinen, Mauno ^a,b  

^a UNIVERSITY OF TAMPERE   (Finland)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Diagnosis; Disease classification; Expert systems; Mutation databases; Patient registries; Primary immunodeficiencies

Indexed keywords

BIOINFORMATICS; DATA BASE; DISEASE CLASSIFICATION; EXPERT SYSTEM; HEALTH CARE PERSONNEL; HUMAN; IMMUNE DEFICIENCY; INTERNET; MUTATIONAL ANALYSIS; PATIENT INFORMATION; PREDICTION; PRIMARY IMMUNODEFICIENCY; PRIORITY JOURNAL; REGISTER; REVIEW;

COMPUTATIONAL BIOLOGY; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; PREDICTIVE VALUE OF TESTS; QUALITY ASSURANCE, HEALTH CARE; SEMANTICS; SOFTWARE;

EID: 70350761760     PISSN: 15284050     EISSN: 14736322     Source Type: Journal    
DOI: 10.1097/ACI.0b013e3283327dc1     Document Type: Review

References (26)

1. Marodi L, Notarangelo LD. Immunological and genetic bases of new primary immunodeficiencies. Nat Rev Immunol 2007; 7:851-861.
2. Ortutay C, Vihinen M. Identification of candidate disease genes by integrating Gene Ontologies and protein-interaction networks: case study of primary immunodeficiencies. Nucleic Acids Res 2009; 37:622-628.
3. Samarghitean C, Väliaho J, Vihinen M. IDR knowledge base for primary immunodeficiencies. Immunome Res 2007; 3:6.
4. Väliaho J, Riikonen P, Vihinen M. Distribution of immunodeficiency fact files with XML -from Web to WAP. BMC Med Inform Decis Mak 2005; 5:21.
5. Ochs HD, Smith CIE, Puck JM. Primary immunodeficiency diseases, a molecular and genetic approach. 2nd ed. Oxford: Oxford University Press; 2007.
6. Samarghitean C, Väliaho J, Vihinen M. Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics. J Clin Immunol 2004; 24:53-61.
7. Eades-Perner AM, Gathman B, Knerr V, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2004-2006. Clin Exp Immunol 2007; 147:306-312.
8. PiiriläH, Väliaho J, Vihinen M. Immunodeficiency mutation databases (IDbases). Hum Mutat 2006; 27:1200-1208.
9. Knerr V, Grimbacher B. Primary immunodeficiency registries. Curr Opin Allergy Clin Immunol 2007; 7:475-480.
10. Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol 2007; 27:517-524.
11. Plebani A, Soresina A, Notarangelo LD, et al. The Italian network of primary immunodeficiencies. Iran J Allergy Asthma Immunol 2004; 3:165-168.
12. Matamoros Flori N, Mila Llambi J, Espanol Boren T, et al. Primary immunodeficiency syndrome in Spain: first report of the national registry in children and adults. J Clin Immunol 1997; 17:333-339.
13. Rezaei N, Pourpak Z, Aghamohammadi A, et al. Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian primary immunodeficiency registry. J Clin Immunol 2006; 26:519-532.
14. Horowitz M. The role of registries in facilitating clinical research in BMT: examples from the Center for International Blood and Marrow Transplant Research. Bone Marrow Transplant 2008; 42:S1-S2.
15. Griffith LM, Cowan MJ, Kohn DB, et al. Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol 2008; 122:1087-1096.
16. Amberger J, Bocchini CA, Scott AF, Hamosh A. McKusick's Online Mendelian Inheritance in Man (OMIM). Nucleic Acids Res 2009; 37:D793-D796.
17. Karolchik D, Kuhn RM, Baertsch R, et al. The UCSC Genome Browser Database: 2008 update. Nucleic Acids Res 2008; 36:D773-D779.
18. Giardine B, Riemer C, Hefferon T, et al. PhenCode: connecting ENCODE data with mutations and phenotype. Hum Mutat 2007; 28:554-562.
19. Keerthikumar S, Raju R, Kandasamy K, et al. RAPID: Resource of Asian Primary Immunodeficiency Diseases. Nucleic Acids Res 2009; 37:D863-D867.
20. Thusberg J, Vihinen M. Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods. Hum Mutat 2009; 30:703-714.
21. Ortutay C, Siermala M, Vihinen M. Molecular characterization of the immune system: emergence of proteins, processes, and domains. Immunogenetics 2007; 59:333-348.
22. Ortutay C, Vihinen M. Immunome knowledge base (IKB): an integrated service for immunome research. BMC Immunol 2009; 10:3.
23. de Vries E, Clinical Working Party of the European Society for Immunode-ficiencies (ESID). Patient-centred screening for primary immunodeficiency: a multistage diagnostic protocol designed for nonimmunologists. Clin Exp Immunol 2006; 145:204-214.
24. Samarghitean C, Vihinen M. Medical expert systems. Curr Bioinform 2008; 3:56-65.
25. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Clin Immunol 1999; 93:190-197.
26. Bonilla FA, Bernstein IL, Khan DA, et al., American Academy of Allergy, Asthma and Immunology; Joint Council of Allergy, Asthma and Immunology. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005; 94:S1-S63.