Inmunodeficiencias primarias en la infancia : ¿cuándo sospecharlas?.
Primary immunodeficiencies in childhood : when to suspect?.
Barra lateral del artículo
PDF
FLIP
Contenido principal del artículo
Resumen
Las inmunodeficiencias primarias no son enfermedades raras. En el ejercicio profesional de los médicos generales y especialistas, estas patologías se presentarán con más frecuencia de la esperada. El desconocimiento del tema y el retraso en el diagnóstico son las principales causas de morbi-mortalidad de los pacientes. La susceptibilidad a infecciones es una de las características clínicas que debe hacer sospechar de la existencia de una posible inmunodeficiencia primaria. En la infancia, donde se presentan infecciones respiratorias y gastrointestinales con frecuencia, sin que exista un trastorno inmune subyacente, puede ser particularmente difícil saber cuándo se está ante un patrón de infecciones normal y cuándo ante un síndrome de infección recurrente anormal. Si las infecciones son severas, de duración prolongada, presentan complicaciones graves y tienen una pobre respuesta al tratamiento, se deberían realizar más estudios y descartar una inmunodeficiencia primaria.
Palabras clave:
Descargas
Detalles del artículo
Referencias (VER)
Turvey SE, Bonilla FA, Junker AK. Primary immunodeficiency diseases: a practical guide for clinicians. Postgrad Med J. 2009; 85: 660-666.
Cassimos DC, Liatsis M, Stogiannidou A, Kanariou M.Children with frequent infections: A proposal for a stepwise assessment and investigation of the immune system. The immune defense to foreign invaders Symphony. Which instrument is out of tune?. Pediatr Allergy Immunol. 2010;21: 463–473.
Bonilla FA, Bernstein IL, Khan DA, Ballas ZK,Chinen J, Frank MMet al. Practice parameter for the diagnosis and management of primary immunodeficiency. Annals of allergy, asthma & immunology. 2005; 94: s1-s63.
Morimoto Y, Routes, J M. Immunodeficiency Overview. Prim Care Clin Office Pract. 2008; 35: 159–173.
Maródi L, Casanova JL.Primary immunodeficiency diseases: the J Project. Lancet. 2009; 373: 2179 - 2181.
Ballow M, Notarangelo L, Grimbacher B, Cunningham-Rundles C, Stein M, Helbert Met al. Immunodeficiencies. Clinical and Experimental Immunology. 2009; 158 (Suppl. 1): 14–22.
De Vries E. Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clinical and Experimental Immunology. 2006;145: 204–214.
Casanova JL, Abel L. Primary Immunodeficiencies: A Field in Its Infancy. Science. 2007; 317: 617-619.
Joshi AY, Iyer VN, Hagan JV, Sauver JL, Boyce TGet al. Incidence and Temporal Trends of Primary Immunodeficiency: A Population-Based Cohort Study. Mayo Clin Proc. 2009; 84 (1): 16-22.
Glocker E, Ehl S, Grimbacher B. Common variable immunodeficiency in children. Curr Opin Pediatr. 2007; 19: 685–692.
Notarangelo LD, Fischer A,Geha RS, Casanova JL, Chapel H, Conley MEet al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009; 124: 1161-78.
Grupo Latinoamericano de Inmunodeficiencias Primarias (Latin American Group for Primary Immunodeficiencies – LAGID). [Online] Available from: URL: http://www.lagid.lsuhsc.edu/.
Sociedad Colombiana de Pediatría. [Online] Available from: URL: http://www.scp.com.co/index.php?view=details&id=11%3Acongreso-de-la-sociedad-latinoamericana-de-inmunodeficienciaslasid&option=com_eventlist.
Zelazko M, Carneiro-Sampaio M, Cornejo M, García D, Porras O, Berrón R et al. Primary imunodeficiency diseases in Latin America: First Report from Eight Countries Participating in the LAGID. Journal of Clinical Immunology. 1998; 18 (2): 161-166.
Leiva LE, Zelazco M, Oleastro M, Carneiro-Sampaio M, Condino-Neto A, Tavares B et al. Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID Registry. Journal of Clinical Immunology. 2007; 27(1): 101-108.
Montoya CJ, Henao J, Salgado H, Olivares MM, López JA, Rugeles C et al. Diagnóstico fenotípico de las inmunodeficiencias primarias en Antioquia, Colombia, 1994 - 2002. Biomédica. 2002; 22: 510-518.
Díaz MA, Sarrazola DM, Orrego JC. Caracterización epidemiológica, clínica y de algunos parámetros inmunológicos del síndrome de infección recurrente en niños y adolescentes desplazados a la ciudad de Cúcuta. Asociación Colombiana de Infectología. 2008; 12: 254-263.
Yarmohammadi H, Estrella L, Cunningham-Rundles C. Diagnosis of Primary Immunodeficiency; Can Review of Medical History Help? J Allergy Clin Immunol. 2004; 113: s47.
Kainulainen L, Vuorinen T, Rantakokko-Jalava K, Österback R, Ruuskanen O. Recurrent and persistent respiratory tract viral infections in patients with primary hypogammaglobulinemia. J Allergy Clin Immunol. 2010; 126: 120-6.
Bonilla FA,Geha RS. Update on primary immunodeficiency diseases. J Allergy Clin Immunol. 2006; 117: S435-41.
Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010; 125: S182-94.
Oliveira JB, Fleisher TA. Laboratory evaluation of primary immunodeficiencies. J Allergy Clin Immunol. 2010; 125: S297-305.
Notarangelo LD, Casanova JL. Primary immunodeficiencies: increasing market share. Current Opinion in Immunology. 2009; 21: 461–465.
Notarangelo LD. PIDs and cancer: an evolving story. Blood. 2010; 116: 1189-1190.
Notarangelo LD. Primary immunodeficiencies (PIDs) presenting with cytopenias. Hematology. 2009; 139-143.
Shkalim V, Monselize Y, Segal N, Zan-Bar I, Hoffer V, Garty BZ. Selective IgA deficiency in children in Israel. J Clin Immunol. 2010; 30: 761–765.
Yel L. Selective IgA Deficiency. J Clin Immunol. 2010; 30: 10–16.
Freeman AF, Holland SM. Clinical Manifestations, Etiology, and Pathogenesis of the Hyper-IgE Syndromes. Pediatr Res. 2009; 65: 32R–37R.
Heimall J, Freeman A, Holland SM. Pathogenesis of hyper IgE Syndrome. Clinic Rev Allerg Immunol. 2010; 38: 32–38.
Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010; 125: 424-32.
Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M et al. Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. J Allergy Clin Immunol. 2010; 126: 611-7.
Galicchio MF, Ornani A, Gentile A, Bazán V, Uboldi A, Califano G et al. Guías de manejo: Vacunas en pacientes con inmunodeficiencias primarias. Arch Argent Pediatr. 2010; 108(5): 454-464.
Bonilla FA, Geha RS. Primary immunodeficiency diseases. J Allergy Clin Immunol. 2003; 111: S 571-581.
Bousfiha A, Picard C, Boisson-Dupuis S, Zhang S, Bustamante J, Puel A et al. Primary immunodeficiencies of protective immunity to primary infections. Clinical Immunology. 2010; 135: 204-209.
Pessach I, Walter J, Notarangelo LD. Recent Advances in Primary Immunodeficiencies: Identification of Novel Genetic Defects and Unanticipated Phenotypes. Pediatr Res. 2009; 65: 3R–12R.
Casanova JL, Fieschi C, Zhang S, Abel L. Revisiting human primary immunodeficiencies. J Intern Med. 2008; 264:115-127.
Bustamante J, Zhang S, von Bernuth H, Abel L, Casanova JL. From Infectious diseases to primary immunodeficiencies. Immunol Allergy Clin N Am. 2008; 28: 235–258.
Alcaïs A, Abel L, Casanova JL. Human genetics of infectious diseases: between proof of principle and paradigm. J. Clin. Invest. 2009; 119: 2506–2514.
Bustamante J, Boisson-Dupuis S, Jouanguy E, Picard C, Puel A, Abel Let al. Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases. Current Opinion in Immunology. 2008; 20:39–48.
Neven B, Leroy S, Decaluwe H, Le Deist F, Picard C, Moshous D et al. Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood. 2009; 113: 4114-4124.
Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F et al. Improving cellular therapy for primary immune deficiency diseases: Recognition, diagnosis, and management. J Allergy Clin Immunol. 2009; 124: 1152-60.
Kohn, DB. Update on gene therapy for immunodeficiencies. Clinical Immunology. 2010; 135:247–254.
Citado por
