20 – Inmunodeficiencias primarias

C. Royo, J.-L. Touraine, O. De Bouteiller, Ontogeny of T lymphocyte differentiation in the human fetus: Acquisition of phenotype and functions Thymus. ,vol. 10, pp. 57- 73 ,(1987) , 10.1007/978-94-009-3365-1_7

Charlotte Cunningham-Rundles, Physiology of IgA and IgA deficiency. Journal of Clinical Immunology. ,vol. 21, pp. 303- 309 ,(2001) , 10.1023/A:1012241117984

Elma Z. Tchilian, Diana L. Wallace, R. Spencer Wells, Darren R. Flower, Gareth Morgan, Peter C. L. Beverley, A Deletion in the Gene Encoding the CD45 Antigen in a Patient with SCID The Journal of Immunology. ,vol. 166, pp. 1308- 1313 ,(2001) , 10.4049/JIMMUNOL.166.2.1308

Anne Puel, Steven F Ziegler, Rebecca H Buckley, None, Defective IL7R expression in T - B + NK + severe combined immunodeficiency Nature Genetics. ,vol. 20, pp. 394- 397 ,(1998) , 10.1038/3877

David C. Dale, Richard E. Person, Audrey Anna Bolyard, Andrew G. Aprikyan, Cindy Bos, Mary Ann Bonilla, Laurence A. Boxer, George Kannourakis, Cornelia Zeidler, Karl Welte, Kathleen F. Benson, Marshall Horwitz, Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. ,vol. 96, pp. 2317- 2322 ,(2000) , 10.1182/BLOOD.V96.7.2317

Timo Klemola, Kari Varkila, Lina I. Yoo, Katri Vuopala, Minna Poyhonen, Matti Uhari, Martin Rogers, Samuel H. Speck, Talal Chatila, Matthew L. Thomas, Chun Kung, Jeanette T. Pingel, Markku Heikinheimo, Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease Nature Medicine. ,vol. 6, pp. 343- 345 ,(2000) , 10.1038/73208

A. J. Thrasher, C. Kinnon, The Wiskott-Aldrich syndrome. Clinical and Experimental Immunology. ,vol. 120, pp. 2- 9 ,(2000) , 10.1046/J.1365-2249.2000.01193.X

B F Haynes, M E Martin, H H Kay, J Kurtzberg, Early events in human T cell ontogeny. Phenotypic characterization and immunohistologic localization of T cell precursors in early human fetal tissues. Journal of Experimental Medicine. ,vol. 168, pp. 1061- 1080 ,(1988) , 10.1084/JEM.168.3.1061

Jennifer M. Puck, Primary Immunodeficiency Diseases JAMA: The Journal of the American Medical Association. ,vol. 278, pp. 1835- 1841 ,(1997) , 10.1001/JAMA.1997.03550220041007

Despina Moshous, Isabelle Callebaut, Régina de Chasseval, Barbara Corneo, Marina Cavazzana-Calvo, Françoise Le Deist, Ilhan Tezcan, Ozden Sanal, Yves Bertrand, Noel Philippe, Alain Fischer, Jean-Pierre de Villartay, Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency Cell. ,vol. 105, pp. 177- 186 ,(2001) , 10.1016/S0092-8674(01)00309-9