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2013, Number 1

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Revista Habanera de Ciencias Médicas 2013; 12 (1)

Autoimmune response in patients with genetic diseases and immune system deregulation

Torres RB, Martínez TG, Lantigua CA, Rangel VS, Duany SJ, Sánchez RV, Marín PLC

Language: Spanish
References: 33
Page: 35-47
PDF size: 173.82 Kb.


ABSTRACT

Introduction: several genetic diseases with immunological disorder have been described. On the other hand autoimmune diseases have multi factorial origin and autoimmunity predisposition by genetic factors like histocompatibility principal complex has been demonstrated.
Objective: describe autoimmune response disorder in patients with genetic defects and immune system deregulation.
Material and Method: a descriptive study was carried out. Sample was constituted by 20 pacients with genetic defects and immune system deregulation, coming from Medical Genetic consult of Juan Manuel Márquez hospital, with sex distribution of 11 feminine (55%) and 9 masculine (45%) patients. Age interval was of 6 month and 21 years, for average of 6.9 years. Autoimmunity parameter studied were Rheumatoid factor and Anti double DNA chain antibodies determined by enzymatic immunoassay. Circulate immunecomplex determined by precipitation method and Antinuclear antibodies determined by indirect immunofluorescence.
Results and Discussion: in evaluation of autoimmune response mayor positivity obtained was Circulate immunecomplex (40 %) and Rheumatoid factor (40 %) determinations, which may be correspond to an immune system hyper respond by recurrent infections consequence in patients. Antinuclear antibodies were present in 4% of patients. Anti double DNA chain antibodies, obtained in 35% of patients, can be produced in different clinical conditions and bay no pathological immune respond.
Conclusions: investigation makes evident that patients with genetic defects and immune system deregulation have high frequency of alter autoimmune parameter.


REFERENCES

  1. Roitt I, Brostoff J, Male D. Autoinmunidad y Enfermedades Autoinmunes. Inmunología. 7a ed. Madrid: Harcourt; 2007.

  2. Abbas AK. Inmunología celular y molecular. 6 ed. Madrid: Elsevier Saunders; 2008, p.492.

  3. Lahera ST. Conexión entre inmunodeficiencia primaria y autoinmunidad. Rev Cub Hematol Inmunol Hemoter [revista en la Internet]. 2010 Dic [citado 2011 Jul 20]; 26(3):198-205. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-02892010000300003&lng=es

  4. Goyal R, Bulua AC, Nikolov NP,Schwartzberg PL, Siegel RM. Rheumatologic and autoimmune manifestations of primary immunodeficiency disorders. Curr Opin Rheumatol. 2009;21:78-84.

  5. Coutinho A, Carneiro-Sampaio M. Primary immunodeficiencies unravel critical aspects of the pathophysiology of autoimmunity and of the genetics of autoimmune disease. J Clin Immunol. 2008;28(Suppl 1):S4-10.

  6. Carneiro-Sampaio M, Liphaus BL, Silva CA, Oliveira JB, Kiss MH. Understanding systemic lupus erythematosus physiopathology in the light of primary immunodeficiencies. J Clin Immunol. 2008;28 (Suppl 1):S34-41.

  7. Bussone G, Mouthon L. Autoimmune manifestations in primary immunodeficiencies. Autoimmun Rev. 2009;8:332-6.

  8. Reyes L, León F, Rozas MF, González P, Naves R. BAFF. una citoquina reguladora de linfocitos B implicada en autoinmunidad y cáncer linfoide. Rev Med Chile. 2006;134:1175-84.

  9. Ara AA, Duarte AJ, Oliveira JB. Autoimmunity in hyper-IgM syndrome. J Clin Immunol. 2008; 28(Suppl 1):S62-6.

  10. Ram G. Chinen J. Infections and immunodeficiency in Down syndrome. Clinical and Experimental Immunology. 2011;164 (1): 9-16.

  11. Bussone G, Mouthon L. Autoimmune manifestations in primary immunodeficiencies. Autoimmun. Rev. 2009; 8:332-6.

  12. Villasenor J, Benoist C, Mathis D. AIRE and APECED: Molecular insights into an autoimmune disease. Immunol Rev. 2005; 204:156-64.

  13. Chang X, Zheng P, Liu Y. FoxP3: A genetic link between immunodeficiency and autoimmune diseases. Rev. Autoimmun 2006;5:399-402.

  14. Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat. 2008, Aug; 29(8):992-1006.

  15. Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, et al. Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Nat Genet. 2009, Nov;41(11):1247-52.

  16. Krull KR, Brouwers P, Jain N, Zhang L, Bomgaars L, Dreyer Z, et al. Folate pathway genetic polymorphisms are related to attention disorders in childhood leukemia survivors. J Pediatr. 2008, Jan; 152(1):101-5.

  17. Martínez MD. Diagnóstico molecular de enfermedades de base genéticas que afectan el sistema inmune. Universidad autónoma de Barcelona; 2007.

  18. Williams JR. The Declaration of Helsinki and public health. Bull World Health Organ. 2008, Aug;86(8):650-2.

  19. Sánchez CM. Desarrollo de un método inmunoenzimático para la detección de factor reumatoideo en la artritis reumatoide [Tesis para optar por el Título de Especialista de Inmunología]. La Habana: ISCM-H; 1995.

  20. Kasková BN. Simple method of circulating inmune complexes detection in human sera by poliethylene glycol precipitation. J Inmun Forch. 1978(154):399-401.

  21. Alnaqdy A, Al-Busaidy J, Hassan B. Evaluation of anti-ds DNA antibodies in anti-nuclear antibody positive omani patients. PakJ Med Sci. 2007; 23(2): 211-215.

  22. Bloemers BL, van Furth AM, Weijerman ME, et al. Down syndrome: a novel risk factor for respiratory syncytial virus bronchiolitis _ a prospective birth-cohort study. Pediatrics 2007;120:1076-81.

  23. Bloemers BL, van Furth AM, Weijerman ME et al. High incidente of recurrent wheeze in children with Down syndrome with and without previous respiratory syncytial virus lower respiratory tract infection. Pedatric Inf Dis J. 2010; 29:39-4.

  24. Don M, Canciani M, Korppi M. Community-acquired pneumonia in children: what's old?What's new? Acta Paediatr. 2010; 99:1602-8.

  25. Mosayebi G, Rizgar M, Gharagozloo S, Shokri F. Differential expression of rheumatoid factor-associated crossreactive idiotypes in Iranian seropositive and seronegative patients with rheumatoid arthritis. Iranian Biomedical Journal. 2007; 11(1): 7-13.

  26. Fred.S R. Inmunodeficiencias primarias. Roitt I, Brostoff J, Male D. Inmunología. 7a Madrid: Harcourt; 2007.

  27. Wellmann U, Letz M, Herrmann M, Angermu S, Joachim R. Kalden T, Winkle HY. The evolution of human anti-double-stranded DNA autoantibodies. PNAS. 2005;102(26):9258-263.

  28. Richardson B,Ray D, Yung R. Murine models of lupus induced by hipomethylated T cell. Methds Mol Med. 2004;102:285-292.

  29. Hernández ChM, Huete LI, Concha GM-J, Méndez CJ, Sánchez DN, Cuéllar G MC, et al . Síndrome moyamoya en paciente con Síndrome de Down y déficit de antitrombina III. Rev. méd. Chile [revista en la Internet]. 2009, Ago [citado 2011 Ago 11] ; 137(8): 1066-70. Disponible en: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000800011&lng=es

  30. Marsán SV, Valle PL, Sánchez SM, Macías AC. Aspectos diagnósticos, moleculares y terapéuticos de la ataxia telangiectasia. Rev. Cuba. hematol. inmunol. hemoter. ene.-abr.,2003:19(1).

  31. Pallotta R, Ehresmann T, Fusilli P, De Paepe A, Nuytinck L. Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome. (Letter) Am. J. Med. Genet. 2004; 128A: 436-38.

  32. Vilisaar J, Harikrishnan S, Suri M, Constantinescu CS. Ehlers-Danlos syndrome and multiple sclerosis: a possible association. Mult Scler. 2008, May;14(4):567-70.

  33. Kohmen L, Magotteaux J. Chronic frequently debilitating pain of early onset and diverse distribution is a constant feature in most individuals affected with different types of EDS. Rev Med Liege. 2004, June; 59 (6): 363-6.




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