GENETICS OF SUSCEPTIBILITY TO INFECTIOUS DISEASES
https://doi.org/10.22625/2072-6732-2017-9-1-40-46
Abstract
Genetic characteristics of host organism may cause susceptibility to a variety of bacteria, viruses and fungi, as well as influence the course of infectious diseases. Multiple studies indicate the existence of alleles predisposing to infections. Furthermore, there are about 300 nosological entities of primary immunodeficiencies (PID), i.e., inherited defects of immunity. Timely diagnosis of such conditions is quite challenging; however, it is vital for improving quality of patient care. Modern methods of DNA analysis allow establishing genetic causes of vulnerability to certain infectious agents in many individuals
About the Authors
E. N. Suspitsin
Saint-Petersburg State Pediatric Medical University;
Science Research Institute of Oncology named after N.N.Petrov;
Russian Federation
Saint-Petersburg
Russian Federation
Saint-Petersburg
E. Yu. Skripchenko
Saint-Petersburg State Pediatric Medical University;
Pediatric Research and Clinical Center for Infectious Disease;
Institute of Brain named after N.P. Bekhterev
Russian Federation
Saint-Petersburg
Russian Federation
Saint-Petersburg
E. N. Imyanitov
Saint-Petersburg State Pediatric Medical University;
Science Research Institute of Oncology named after N.N.Petrov;
Russian Federation
Saint-Petersburg
Russian Federation
Saint-Petersburg
N. V. Skripchenko
Saint-Petersburg State Pediatric Medical University;
Pediatric Research and Clinical Center for Infectious Disease
Russian Federation
Saint-Petersburg
Russian Federation
Saint-Petersburg
References
1. Lobzin YuV, editor. Manual in Infectious Diseases. SaintPetersburg (Russia): Foliant; с2013 (in Russian).
2. Zavalishina I.A. Chronic neuroinfections. Moscow (Russia): GEOTAR-Media; с2011(in Russian).
3. Jepson A. Twin studies for the analysis of heritability of infectious diseases. Bull Inst Pasteur. 1998;96:71–81.
4. Hwang AE, Hamilton AS, Cockburn MG, Ambinder R, Zadnick J, Brown EE, Mack TM, Cozen W. Evidence of genetic susceptibility to infectious mononucleosis: a twin study. Epidemiol Infect. 2012 Nov;140(11):2089-95.
5. Rovers M, Haggard M, Gannon M, et al. Heritability of symptom domains in otitis media: a longitudinal study of 1,373 twin pairs. Am J Epidemiol. 2002;155: 958–964.
6. Casselbrant ML, Mandel EM, Fall PA. The heritability of otitis media: a twin and triplet study. JAMA. 1999;282:2125–2130.
7. Thomsen SF, Stensballe LG, Skytthe A, et al. Increased concordance of severe respiratory syncytial virus infection in identical twins. Pediatrics. 2008 Mar;121(3):493-6.
8. Sorensen TI, Nielsen GG, Andersen PK, Teasdale TW. Genetic and environmental influences on premature death in adult adoptees. N Engl J Med. 1988;318:727–732. [PubMed: 3347221]
9. Brodin P, Jojic V, Gao T, et al. Variation in the human immune system is largely driven by non-heritable influences. Cell. 2015 Jan 15;160(1-2):37-47.
10. Ge D, Fellay J, Thompson AJ, et al. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature. 2009 Sep 17;461(7262):399-401.
11. Zhang F, Liu H, Chen S, et al. Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. Nat Genet. 2011 Oct 23;43(12):1247-51.
12. Jostins L, Ripke S, Weersma RK, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature. 2012 Nov 1;491(7422):119-24.
13. Thye T, Owusu-Dabo E, Vannberg FO, et al. Common variants at 11p13 are associated with susceptibility to tuberculosis. Nat Genet. 2012 Feb 5;44(3):257-9.
14. Abel L, Alcaïs A, Schurr E. The dissection of complex susceptibility to infectious disease: bacterial, viral and parasitic infections. Curr Opin Immunol.2014 Oct;30:72-8.
15. Casanova JL. Severe infectious diseases of childhood as monogenic inborn errors of immunity. Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):E7128-37.
16. Raniszewska A, Górska E, Kotuła I, et al. Recurrent respiratory tract infections in children – analysis of immunological examinations. Cent Eur J Immunol. 2015;40(2):167-73.
17. de Vries E; Clinical Working Party of the European Society for Immunodeficiencies (ESID). Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin Exp Immunol. 2006 Aug;145(2):204-14.
18. Costa-Carvalho BT, Grumach AS, Franco JL, et al. Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice. J Clin Immunol. 2014 Jan;34(1):10-22.
19. Latysheva E.A. Voprosy sovremennoy pediatrii. 2013$ 12(6): 73-7(in Russian).
20. Yang L, Wu EY, Tarrant TK. Immune Gamma Globulin Therapeutic Indications in Immune Deficiency and Autoimmunity. Curr Allergy Asthma Rep. 2016 Jul;16(8):55.
21. Kuo CY, Kohn DB. Gene Therapy for the Treatment of Primary Immune Deficiencies. Curr Allergy Asthma Rep. 2016 May;16(5):39.
22. Fang M, Abolhassani H, Lim CK, Zhang J, Hammarström L. Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions. J Clin Immunol. 2016 May;36 Suppl 1:68-75.
23. Gathmann B, Binder N, Ehl S, et al. The European internet-based patient and research database for primary immunodeficiencies: update 2011. Clin Exp Immunol. 2012 Mar;167(3):479-91.
24. Bousfiha AA, Jeddane L, Ailal F, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol. 2013 Jan;33(1):1-7.
25. Modell V, Quinn J, Orange J, Notarangelo LD, Modell F. Primary immunodeficiencies worldwide: an updated overview from the Jeffrey Modell Centers Global Network. Immunol Res. 2016 Jun;64(3):736-53.
26. Modell F, Puente D, Modell V. From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of primary immunodeficiencies. Immunol Res. 2009;44(1-3):132-49.
27. Al-Hammadi S, Al-Reyami E, Al-Remeithi S, et al. Attentiveness of pediatricians to primary immunodeficiency disorders. BMC Res Notes. 2012 Jul 31;5:393.
28. Arslan S, Ucar R, Caliskaner AZ, et al. How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease? Ann Allergy Asthma Immunol. 2016 Feb;116(2):151-155.e1.
29. von Bernuth H, Picard C, Puel A, Casanova JL. Experimental and natural infections in MyD88and IRAK-4-deficient mice and humans. Eur J Immunol. 2012 Dec;42(12):3126-35.
30. Picard C, Al-Herz W, Bousfiha A, et al. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015 Nov;35(8):696-726.
31. Bousfiha A, Jeddane L, Al-Herz W, et al. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2015 Nov;35(8):727-38.
32. Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol. 2014 Dec;26(6):454-70.
33. Puel A, Cypowyj S, Bustamante J, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. // Science. 2011 Apr 1;332(6025):65-8.
34. Ling Y, Cypowyj S, Aytekin C, et al. Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. J Exp Med. 2015 May 4;212(5):619-31.
35. Gennery AR. The Evolving Landscape of Primary Immunodeficiencies. J Clin Immunol. 2016 May;36(4):339-40.
36. Samson M, Libert F, Doranz BJ, et al. Resistance to HIV1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature. 1996 Aug 22;382(6593):722-5.
37. Lindesmith L, Moe C, Marionneau S, et al. Human susceptibility and resistance to Norwalk virus infection. Nat Med. 2003 May;9(5):548-53.
38. Shcherbina A.Yu. Sovremennaya revmatologiya.2015; 1: 48-54 (in Russian).
39. Al-Herz W, Notarangelo LD. Classification of primary immunodeficiency disorders: one-fits-all does not help anymore. Clin Immunol. 2012 Jul;144(1):24-5.
40. Stoddard JL, Niemela JE, Fleisher TA, Rosenzweig SD. Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs. Front Immunol. 2014 Nov 3;5:531.
41. Nijman IJ, van Montfrans JM, Hoogstraat M, et al. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol. 2014 Feb;133(2):529-34.
42. Moens LN, Falk-Sörqvist E, Asplund AC, et al. Diagnostics of primary immunodeficiency diseases: a sequencing capture approach. PLoS One. 2014 Dec 11;9(12):e114901.
43. Al-Mousa H, Abouelhoda M, Monies DM, et al. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. J Allergy Clin Immunol. 2016 Jun;137(6):1780-7.
44. Raje N, Soden S, Swanson D, et al. Utility of next generation sequencing in clinical primary immunodeficiencies. Curr Allergy Asthma Rep. 2014 Oct;14(10):468.
45. Casanova JL, Conley ME, Seligman SJ, Abel L, Notarangelo LD. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J Exp Med. 2014 Oct 20;211(11):2137-49.
Review
For citations:
Suspitsin E.N., Skripchenko E.Yu., Imyanitov E.N., Skripchenko N.V. GENETICS OF SUSCEPTIBILITY TO INFECTIOUS DISEASES. Journal Infectology. 2017;9(1):40-46. (In Russ.) https://doi.org/10.22625/2072-6732-2017-9-1-40-46
Views:
8792
.png)
.png)
Email this article 