Información del artículo
Resumen
Se repasan algunas de las aportaciones más sobresalientes en la VIII edición de las reuniones que lleva a cabo el Grupo Español para las Inmunodeficiencias Primarias (IDP), celebradas en Octubre de 2007. Estas jornadas están dirigidas a actualizar los conocimientos sobre nuevos métodos en el diagnóstico y tratamiento de estas enfermedades y en los que se presentan los trabajos realizados por distintos grupos españoles interesados en este tipo de enfermedades.
Palabras clave:
Inmunodeficiencia Primaria
Abstract
An overview of relevant contributions to the VIII edition of the Meeting of the Spanish Group for Primary Immunodeficiencies (PI) is presented. The meeting was held in October 2007, and its aims were to review new diagnostic methods and treatment strategies, as well as present the work done by different Spanish groups involved in the study of immunodeficiency.
Key words:
Primary Immunodeficiency
El Texto completo está disponible en PDF
Bibliografía
[1.]
R.H. Buckley, R.I. Schiff.
The use of intravenous immunoglobulin in immunodeficiency diseases.
N Eng J Med, 325 (1991), pp. 110-117
[2.]
L. Notarangelo, J.L. Casanova, M.E. Conley, H. Chapel, A. Fischer, J. Puck, et al.
Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005.
J Allergy Clin Immunol, 117 (2006), pp. 883-896
[3.]
N. Matamoros, J. Mila, T. Espanol, et al.
Primary Immunodeficiency Syndroms in Spain: First report of the National registry in children and adults.
J Clin Immunol, 17 (1997), pp. 333-339
[4.]
H.D. Ochs, E.C.I. Smith, J.M. Puck.
Primary Immunodeficiency diseases. A molecular and genetic approach.
2nd, Oxford University Press, (2007),
[5.]
J.L. Casanova, L. Abel.
Primary Immunodeficiencies. >A field in its infancy.
Science, 317 (2007), pp. 617-619
[6.]
E. Haddad, P. Landais, W. Friedrich, B. Gerritsen, M. Cavazzana-Calvo, G. Morgan, et al.
Long-term immune reconstitution and outcome after HLA-non-identical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: A european retrospective study of 116 patients.
Blood, 91 (1998), pp. 3646-3653
[7.]
P. Wood, S. Stanworth, J. Burton, A. Jones, D.G. Peckham, T. Green, C. Hyde, H. Chapel, On behalf of the UK Primary Immunodeficiency Network.
Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: A systematic review.
Clin Exp Immunol, 149 (2007), pp. 410-423
[8.]
W. Qasim, H.B. Gaspar, A.J. Thrasher.
Update on clinical gene therapy.
Arch Dis Child, 92 (2007), pp. 1028-1031
[9.]
K. Schwarzwaelder, S.J. Howe, M. Schmidt, M.H. Brugman, A. Deichmann, H. Glimm, et al.
Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo.
J Clin Invest, 117 (2007), pp. 2241-2249
[10.]
C. Booth, M. Hersfield, L. Notarangelo, R. Buckley, M. Hoening, N. Mahlaoui, et al.
Management options for adenosin deaminase deficiency: Proceedings of the EBMT satellite workshop (Hamburg, March 2006).
Clin Immunol, 123 (2007), pp. 139-147
[11.]
M.Y. Köker, O. Sanal, M. de Boer, I. Tezcan, A. Metin, F. Ersoy, et al.
Mutations of Chronic granulomatous disease in Turkish families.
Eur J Clin Invest, 37 (2007), pp. 589-595
[12.]
D. Roos, M. de Boer, M.Y. Köker, J. Dekker, V. Sing-Gupta, A. Ahlin, et al.
Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.
Hum Mutat, 27 (2006), pp. 1218-1229
[13.]
D. Reunaux, P.L. Hordijk, P. Duthilleul, D. Roos.
Priming by tumor necrosis factor-alpha of human neutrophil NADPH- oxidase activity induced by anti-proteinase-3 or anti-myeloperoxidase antibodies.
J Leukoc Biol, 80 (2006), pp. 1424-1433
[14.]
B. Wolach, Y. Scharf, R. Gavrieli, M. de Boer, D. Roos.
Unusual late presentations of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.
Blood, 105 (2005), pp. 61-66
[15.]
R. Perez de Diego, J. Bravo, L.M. Allende, E. Lopez-Granados, J. Rivera, A. Ferreira, et al.
Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient.
Mol Immunol, 45 (2008), pp. 301-303
[16.]
J. Ortiz, M. Fernández-Arquero, E. Urcelay, R. López-Mejías, A. Ferreira, G. Fontán, et al.
Interleukin-10 polymorphisms in Spanish IgA deficiency patients: A case-control and family study.
BMC Med Genet, (2006), pp. 7
[17.]
R. Pérez de Diego, E. López-Granados, M. Pozo, C. Rodríguez, P. Sabina, A. Ferreira, et al.
Bruton's tyrosine kinase is not essential for LPS-induced activation of human monocytes.
J Allergy Clin Immunol, 117 (2006), pp. 1462-1469
[18.]
K. Washington, T.T. Stenzel, R.H. Buckley, M. Gottfried.
Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia.
Am Surg Pathol, 20 (1996), pp. 1240-1252
[19.]
C. Cunningham-Rundles, C. Bodian.
Common variable immunodeficiency: Clinical and immunological features of 248 patients.
Clin Immunol, 92 (1999), pp. 34-48
[20.]
V. Tahan, A. Dobrucali, B. Canbakan, I. Hamzaoglu, R. Ozaras, M. Biyikli, G. Dogusoy, A. Mert, E. Furth.
Cytomegalovirus infection of gastrointestinal tract with multiple ulcers and strictures, causing obstruction in a patient with common variable immunodeficiency syndrome.
Dig Dis Sci, 45 (2000), pp. 1781-1785
[21.]
G. Luzi, A. Zullo, F. Iebba, V. Rinaldi, L. Sanchez, M. Muscaritoli, F. Aiuti.
Duodenal pathology and clinical-immunological implications in common variable immunodeficiency patients.
Am J Gastroenterol, 98 (2003), pp. 118-121
[22.]
I. Kalha, J. Sellin.
Common variable immunodeficiency and the gastrointestinal tract.
Current Gastroenterol Rep, 6 (2004), pp. 377-383
[23.]
K. Das, S. Sachdeva, A. Misra, U.C. Ghoshal.
Malabsorption syndrome due to various causes is associated with antroduodenal hypomotility.
Indian J Gastroenterol, 25 (2006), pp. 58-61
[24.]
A. Khodadad, A. Aghamohammadi, N. Parvaneh, N. Rezaei, F. Mahjoob, et al.
Gastrointestinal manifestations in patients with common variable immunodeficiency.
Dig Dis Sci, 11 (2007), pp. 2977-2983
[25.]
N. Elnachef, M. McMorris, W.D. Chey.
Successful treatment of common variable immunodeficiency disorder-associated diarrhea with budesonide: A case report.
Am J Gastroenterol, 102 (2007), pp. 1322-1325
[26.]
R.H. Buckley, R.I. Schiff.
The use of intravenous immunoglobulin in immunodeficiency diseases.
N Eng J Med, 325 (1991), pp. 110-117
[27.]
A. Gardulf, L. Hammarström.
Subcutaneous administration of immunoglobulins What are the advantages?.
Clin Immunother, 6 (1996), pp. 108-116
[28.]
A. Gardulf, U. Nicolay, O. Asensio, E. Bernatowska, A. Böck, B.T. Costa- Carvalho, et al.
Children and adults with primary antibody deficiencies gain quality of life by subcutaneous IgG self-infusions at home.
J Allergy Clin Immunol, 114 (2004), pp. 936-942
[29.]
U. Nicolay, P. Kiessling, M. Berger, S. Gupta, L. Yel, C.M. Roifman, A. Gardulf, et al.
Health-related quality of life and treatment satisfaction in North American patients with primary immunedeficiency diseases receiving subcutaneous IgG selfinfusions at home.
J Clin Immunol, 26 (2006), pp. 65-72
[30.]
M. Helbert, A. Farragher.
Subcutaneous immunoglobulin for patients with antibody deficiency.
British J Hosp Med, 68 (2007), pp. 206-210
[31.]
R. Perez de Diego, E. Lopez-Granados, M. Pozo, C. Rodriguez, P. Sabina, A. Ferreira, et al.
Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient.
Mol Immunol, 45 (2008), pp. 301-303
[32.]
C. Nunez, R. Lopez-Mejias, A. Martinez, M.C. Garcia-Rodriguez, M. Fernandez-Arquero, E.G. de la Concha, E. Urcelay.
A functional PTPN22 polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population.
BMC Med Genet, 15 (2006), pp. 7-25
[33.]
E. Lopez-Granados, R. Perez de Diego, A. Ferreira Cerdan, G. Fontan Casariego, M.C. Garcia Rodriguez.
A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.
J Allergy Clin Immunol, 116 (2005), pp. 690-697
[34.]
R. Perez de Diego, E. Lopez Granados, A. Ferreira Cerdan, G. Fontan Casariego, M.C. Garcia Rodriguez.
Kinase activity and XLA phenotypic variability.
J Allergy Clin Immunol, 115 (2005), pp. 205-206
Copyright © 2007. Sociedad Española de Inmunología