2014, Número 2
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Rev Invest Clin 2014; 66 (2)
Inmunodeficiencias primarias en el adulto. Un reto diagnóstico para medicina interna
Espinosa-Padilla SE, Blancas-Galicia L, Berrón-Ruiz L, Espinosa-Rosales FJ
Idioma: Español
Referencias bibliográficas: 46
Paginas: 164-172
Archivo PDF: 350.46 Kb.
FRAGMENTO
Femenino de 42 años con los siguientes antecedentes:
un hermano con enfermedad de Graves.
Negó antecedentes de tabaquismo, exposición a metales,
tóxicos y COMBE.
REFERENCIAS (EN ESTE ARTÍCULO)
Notarangelo LD. Primary Immunnodeficiencies. J Allergy Clin Immunol 2010; 125(2 Suppl. 2): S182-S194.
Al-Herz W, Bousfiha A, Casanova J-L, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, et al. Primary Immunodeficiency Diseases: an update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Front Immunol 2011; 2: 54.
Rezaei N, Bonilla F, Sulliva K, Vries E, Orange J. An introduction to primary immunodeficiency disease. En: Rezaei N, Aghamohammadi A, Notarangelo L (eds.). Primary immunodeficiency disease. España: Springer; 2008, p. 1-38.
Boyle JM, Buckley RH. Population Prevalence of Diagnosed Primary Immunodeficiency Diseases in the United States. J Clin Immunol 2007; 27: 497-502.
De Vries E, et al. Patient-centered screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clinical and Experimental Immunology 2011; 167: 108-19.
Lederman H, et al. The Clinical Presentation of Primary Immunodeficiency Diseases. Immune Deficiency Foundation 2000; 2(1): 1-5.
Leiva LE, Zelazco M, Oleastro M, et al. for the Latin American Group for Primary Immunodeficiency Diseases. Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry. J Clin Immunol 2007; 27: 101-8.
Aghamohammadi A, Farhoudi A, Moin M, Rezaei N, Kouhi A, Pourpak Z, Yaseri N, et al. Clinical and immunological features of 65 Iranian patients with common variable immunodeficiency. Clin Diagn Lab Immunol 2005; 12: 825-32.
Janeway C Apt L, Gitlin D. Agammaglobulinemia. Trans Assoc Am Physicians 1953; 66: 200-02.
Cooper MD, Faulk WP, Fudenberg HH, et al. Classification of primary immunodeficiencies. N Engl J Med 1973; 288(18): 966-7.
Urschel S, Kayikci L, Wintergerst U, Notheis G, Jansson A, Belohradsky BH. Common variable immunodeficiency disorders in children: Delayed diagnosis despite typical clinical presentation. J Pediatr 2009; 154(6): 888-94.
Park MA, Li JT, Hagan JB, Maddox DE, Abraham RS. Common variable immunodeficiency: A new look at an old disease. Lancet 2008; 372: 489-502.
Bacchelli C, Buckridge S, Thrasher AJ, Gaspar HB. Translational mini-review series on immunodeficiency: Molecular defects in common variable immunodeficiency. Clin Exp Immunol 2007; 149(3): 401-09.
Chapel H, Lucas M, Lee M, et al. Common variable immunodeficiency disorders: Division into distinct clinical phenotypes. Blood 2008; 112(2); 277-86.
Ramírez-Vargas N, Arablin-Oropeza SE, Mojica-Martínez D, Yamazaki-Nakashimada MA, García-Cruz ML, Terán-Juárez LM, Cortés-Grimaldo RM, et al. Clinical and immunological features of common variable immunodeficiency in Mexican patients. Allergol Immunopathol (Madr). 2013 [Article in press].
Deane S, Selmi C, Naguwa SM, Teuber S, Gershwin E. Common variable immunodeficiency: Etiological and treatment issues. Int Arch Allergy Immunol 2009; 150: 311-24.
Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: Clinical and immunological features of 248 patients. Clin Immunol 1999; 92: 34-48.
Cunningham-Rundles C, Radigan L. Deficient IL-12 and dendritic cell function in common variable immune deficiency. Clin Immunol 2005; 115(2): 147-53.
Holm AM, Aukrust P, Damas JK, Muller F, Halvorsen B, Froland SS. Abnormal interleukin-7 function in common variable immunodeficiency. Blood 2005; 105(7): 2887-90.
Salzer U, Chapel HM, Webster ADB, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, Peter HH, et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005; 37: 820-8.
Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, Geha RS. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005; 37: 829-34.
Pan-Hammarström Q, Salzer U, Du L, Björkander J, Cunningham- Rundles C, Nelson DL, Bacchelli C, et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 2007; 39: 429-30.
Sekine H, Ferreira RC, Pan-Hammarström Q, Graham RR, Ziemba B, de Vries SS, Liu J, Hippen K, et al. Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci USA 2007; 104: 7193-8.
Yong PF, Thaventhiran JE, Grimbacher B. “A rose is a rose is a rose,” but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011. Adv Immunol 2011; 111: 47-107.
Warnatz K, Schlesier M. Flowcytometric Phenotyping of Common Variable Immunodeficiency. Cytometry Part B (Clinical Cytometry) 2008; 74B: 261-71.
Giovannetti A, Pierdominici M, Mazzetta F, et al. Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J Immunol 2007; 178(6): 3932-43.
Chapel H, Lucas M, Lee M, et al. Common variable immunodeficiency disorders: Division into distinct clinical phenotypes. Blood 2008; 112(2): 277-86.
Kokron CM, Errante PR, Barros MT, Baracho GV, Camargo MM, Kalil J, Rizzo LV. Clinical and laboratory aspects of common variable immunodeficiency. An Acad Bras Cienc 2004; 76(4): 707-26.
Llobet MP, Bertrán JM, Español T. Common variable immunodeficiency in children. Allergol Immunopathol 2002; 30(1): 42-6.
Quinti I, Soresina A, Spadaro G, et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol 2007; 27(3): 308-16.
Michel M, Chanet V, Galicier L, et al. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore) 2004; 83: 254-63.
Bates CA, Ellison MC, Lynch DA, Cool CD, Brown KK, Routes JM. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol 2004; 114: 415-21.
Mechanic LJ, Dikman S, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Ann Intern Med 1997; 127: 613-7.
Morimoto Y, Routes JM. Granulomatous disease in common variable immunodeficiency. Curr Allergy Asthma Rep 2005; 5: 370-5.
Wheat WH, Cool CD, Morimoto Y, et al. Possible role of human herpesvirus 8 in the lymphoproliferative disorders in common variable immunodeficiency. J Exp Med 2005; 202: 479-84.
Kinlen LJ, Webster AD, Bird AG, et al. Prospective study of cancer in patients with hypogammaglobulinaemia. Lancet 1985; 1: 263-6.
Mellemkjaer L, Hammarstrom L, Andersen V, et al. Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clin Exp Immunol 2002; 130: 495-500.
Blancas-Galicia L, Ramírez-Vargas NG, Espinosa-Rosales F. Inmunodeficiencia común variable. Un enfoque clínico. Rev Invest Clin 2010; 62: 577-82.
Orange JS, Grossman WJ, Navickis RJ, Wilkes MM. Impact of trough IgG on pneumonia incidence in primary immunodeficiency: A meta-analysis of clinical studies. Clin Immunol 2010; 137: 21-30.
Warnatz K, Voll R. Pathogenesis of autoimmunity in common variable immunodeficiency. Frontiers in Immunology 2012; 3: 1-6.
Abdel-Naser MB, Wollina U, El Hefnawi MA, Habib MA, El Okby M. Non-sarcoidal, non-tuberculoid granuloma in common variable immunodeficiency. J Drugs Dermatol 2006; 5(4): 370-2.
Fasano MB, Sullivan KE, Sarpong SB, Wood RA, Jones SM, Johns CJ, Lederman HM, et al. Sarcoidosis and common variable immunodeficiency. Report of 8 cases and review of the literature. Medicine (Baltimore) 1996; 75(5): 251-61.
Bouvry D, Mouthon L, Brillet PY, Kambouchner M, Ducroix JP, Cottin V, Haroche J, et al; Groupe Sarcoïdose Francophone. Granulomatosis-associated common variable immunodeficiency disorder: a case-control study versus sarcoidosis. Eur Respir J 2013; 41(1): 115-22.
Speletas M, Salzer U, Florou Z, Petinaki E, Daniil Z, Bardaka F, Gourgoulianis KI, et al. Heterozygous alterations of TNFRSF13B/TACI in tonsillar hypertrophy and sarcoidosis. Clin Dev Immunol 2013; 2013: 532437.
Paquin-Proulx D, Santos BA, Carvalho KI, Toledo-Barros M, Barreto de Oliveira AK, Kokron CM, Kalil J, et al. IVIg Immune Reconstitution Treatment Alleviates the State of Persistent Immune Activation and Suppressed CD4 T Cell Counts in CVID. PLOS ONE 2013; 8: e75199.
Abolhassani H, Sagvand BT, Shokuhfar T, Mirminachi B, Rezaei N, Aghamohammadi A. A review on guidelines for management and treatment of common variable immunodeficiency. Expert Rev Clin Immunol 2013; 9: 561-74.