Polymorphisms of Pyrimidine Pathway Enzymes Encoding Genes and HLA-B40∶01 Carriage in Stavudine-Associated Lipodystrophy in HIV-Infected Patients von Domingo, Pere, Mateo, Maria Gracia, Pruvost, Alain, Torres, Ferran, Salazar, Juliana, Gutierrez, Maria Del Mar, Domingo, Joan Carles, Fernandez, Irene, Villarroya, Francesc, Vidal, Francesc, Baiget, Montserrat, de la Calle-Martín, Oscar

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Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations von Leiding, Jennifer W., Okada, Satoshi, Hagin, David, Abinun, Mario, Shcherbina, Anna, Balashov, Dmitry N., Kim, Vy H.D., Ovadia, Adi, Guthery, Stephen L., Pulsipher, Michael, Lilic, Desa, Devlin, Lisa A., Christie, Sharon, Depner, Mark, Fuchs, Sebastian, van Royen-Kerkhof, Annet, Lindemans, Caroline, Petrovic, Aleksandra, Sullivan, Kathleen E., Bunin, Nancy, Kilic, Sara Sebnem, Arpaci, Fikret, Calle-Martin, Oscar de la, Martinez-Martinez, Laura, Aldave, Juan Carlos, Kobayashi, Masao, Ohkawa, Teppei, Imai, Kohsuke, Iguchi, Akihiro, Roifman, Chaim M., Gennery, Andrew R., Slatter, Mary, Ochs, Hans D., Morio, Tomohiro, Torgerson, Troy R.

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Inherited human ezrin deficiency impairs adaptive immunity von García-Solís, Blanca, Van Den Rym, Ana, Martinez-Martínez, Laura, Franco, Teresa, Pérez-Caraballo, Jareb J., Markle, Janet, Cubillos-Zapata, Carolina, Marín, Ana V., Recio, María J., Regueiro, José R., Navarro-Zapata, Alfonso, Mestre-Durán, Carmen, Ferreras, Cristina, Martín Cotázar, Carla, Mena, Roció, de la Calle-Fabregat, Carlos, López-Lera, Alberto, Fernández Arquero, Miguel, Pérez-Martínez, Antonio, López-Collazo, Eduardo, Sánchez-Ramón, Silvia, Casanova, Jean-Laurent, Martínez-Barricarte, Rubén, de la Calle-Martín, Oscar, Pérez de Diego, Rebeca

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Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15 von Martinez-Martinez, Laura, Lleixà, Ma Cinta, Boera-Carnicero, Gemma, Cortese, Andrea, Devaux, Jérôme, Siles, Ana, Rajabally, Yusuf, Martinez-Piñeiro, Alicia, Carvajal, Alejandra, Pardo, Julio, Delmont, Emilien, Attarian, Shahram, Diaz-Manera, Jordi, Callegari, Ilaria, Marchioni, Enrico, Franciotta, Diego, Benedetti, Luana, Lauria, Guiseppe, de la Calle Martin, Oscar, Juárez, Cándido, Illa, Isabel, Querol, Luis

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Non‐myeloablative hematopoietic stem cell transplantation in the treatment of severe idiopathic CD4+ lymphocytopenia von Cervera, Carlos, Fernández‐Avilés, Francesc, de la Calle‐Martin, Oscar, Bosch, Xavier, Rovira, Montserrat, Plana, Montse, Moreno, Asunción, García, Felipe, Miró, Jose M., Martínez, Antonio, Gallart, Teresa, Carreras, Enric, Blade, Joan, Gatell, Jose M.

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A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis von Martinez-Martinez, Laura, Martinez-Saavedra, Maria Teresa, Fuentes-Prior, Pablo, Barnadas, Maria, Rubiales, Maria Victoria, Noda, Judith, Badell, Isabel, Rodríguez-Gallego, Carlos, Calle-Martin, Oscar de la

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Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations von Rosenzweig, Sergio, Abel, Laurent, Adimi, Parisa, Al-Ghonaium, Abdulaziz, de la Calle Martin, Oscar, Feinberg, Jacqueline, Yang, Kun, Khalilzadeh, Soheila, Chuzhanova, Nadia, de Beaucoudrey, Ludovic, Bustamante, Jacinta, Al-Mohsen, Ibrahim, Holland, Steven M, Cooper, David N, Furthner, Dieter, Alcais, Alexandre, Filipe-Santos, Orchidée, Boisson-Dupuis, Stéphanie, Mansouri, Davood, Vogt, Guillaume, Engelhorn, Carolin, Al-Hajjar, Sami, Mirsaeidi, Mehdi, Casanova, Jean-Laurent, Bauer, Thomas R, Soudais, Claire, Ochs, Hans D, Chapgier, Ariane, Fieschi, Claire, Belohradsky, Bernd, Puck, Jennifer M, Schreiber, Robert D

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From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family von Martinez‐Martinez, Laura, Vazquez‐Ortiz, Marta, Gonzalez‐Santesteban, Cecilia, Martin‐Nalda, Andrea, Vicente, Asunción, Plaza, Ana M., Badell, Isabel, Alsina, Laia, de la Calle‐Martin, Oscar

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Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies von Mancebo, Esther, Moreno-Pelayo, Miguel A., Mencía, Ángeles, de la Calle-Martín, Oscar, Allende, Luis M., Sivadorai, Padma, Kalaydjieva, Luba, Bertranpetit, Jaume, Coto, Eliecer, Calleja-Antolín, Sara, Ruiz-Contreras, Jesus, Paz-Artal, Estela

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Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases von Mensa-Vilaro, Anna, Bravo Garcia-Morato, Maria, de la Calle-Martin, Oscar, Franco-Jarava, Clara, Teresa Martinez-Saavedra, Maria, Gonzalez-Granado, Luis I, Gonzalez-Roca, Eva, Luis Fuster, Jose, Alsina, Laia, Mutchinick, Osvaldo M, Balderrama-Rodriguez, Angelica, Ramos, Eduardo, Modesto, Consuelo, Mesa-del-Castillo, Pablo, Ortego-Centeno, Norberto, Clemente, Daniel, Souto, Alejandro, Palmou, Natalia, Remesal, Agustin, Leslie, Kieron S, Gomez de la Fuente, Enrique, Bravo Gallego, Luz Yadira, Maria Campistol, Josep, Guirat Dhouib, Naouel, Bejaoui, Mohamed, Almeida Dutra, Livia, Teresa Terreri, Maria, Mosquera, Catalina, Gonzalez, Tatiana, Canellas, Jeronima, Maria Garcia-Ruiz de Morales, Jose, Wouters, Carine H, Teresa Bosque, Maria, Cham, Weng Tarng, Jimenez-Trevino, Santiago, de Inocencio, Jaime, Bloomfield, Marketa, Perez de Diego, Rebeca, Martinez-Pomar, Natalia, Rodriguez-Pena, Rebeca, Gonzalez-Santesteban, Cecilia, Soler-Palacin, Pere, Casals, Ferran, Yague, Jordi, Allende, Luis M, Carlos Rodriguez-Gallego, Jose, Colobran, Roger, Martinez-Martinez, Laura, Lopez-Granados, Eduardo, Arostegui, Juan I

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The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: Conclusions from a X-linked hyper IgM syndrome kindred von Martinez-Martinez, Laura, Gonzalez-Santesteban, Cecilia, Badell, Isabel, de la Calle-Martin, Oscar

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Hipogammaglobulinemia crónica postrasplante de precursores hematopoyéticos y su tratamiento con gammaglobulina subcutánea en pacientes pediátricos von Serra Font, Sara, López-Granados, Lucía, Sisinni, Luisa, Serna Berna, José Vicente, Martínez Martínez, Laura, Fernández de Gamarra-Martínez, Edurne, de la Calle Martín, Oscar, Badell Serra, Isabel

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Hematopoietic stem cell transplantation in patients with Gain of Function STAT1 Mutation von Leiding, Jennifer W., MD, Okada, Satoshi, MD PhD, Hagin, David, MD PhD, Abinun, Mario, MD, Shcherbina, Anna, MD, Balashov, Dmitry N., MD, Kim, Vy H.D., MD, Ovadia, Adi, MD, Guthery, Stephen L., MD, Pulsipher, Michael, MD, Lilic, Desa, MD DSc PhD, Devlin, Lisa A., MD, Christie, Sharon, MD, Depner, Mark, MD, Fuchs, Sebastian, PhD, van Royen-Kerkhof, Annet, MD, PhD, Lindemans, Caroline, MD PhD, Petrovic, Aleksandra, MD, Sullivan, Kathleen E., MD PhD, Bunin, Nancy, MD, Kilic, Sara Sebnem, MD, Arpaci, Fikret, MD, Calle-Martin, Oscar de la, MD, Martinez-Martinez, Laura, PhD, Aldave, Juan Carlos, MD, Kobayashi, Masao, MD PhD, Ohkawa, Teppei, MD, Imai, Kohsuke, MD, PhD, Iguchi, Akihiro, MD PhD, Roifman, Chaim M., MD, Gennery, Andrew R., MD, Slatter, Mary, MD, Ochs, Hans D., MD, Morio, Tomohiro, MD PhD, Torgerson, Troy R., MD PhD

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Familial CD8 deficiency due to a mutation in the CD8 alpha gene von de la Calle-Martin, O, Hernandez, M, Ordi, J, Casamitjana, N, Arostegui, J I, Caragol, I, Ferrando, M, Labrador, M, Rodriguez-Sanchez, J L, Espanol, T

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Chronic hypogammaglobulinemia after allogeneic stem cell transplantation and their treatment with subcutaneous immunoglobulin in pediatric patients von Serra Font, Sara, López-Granados, Lucía, Sisinni, Luisa, Serna Berna, José Vicente, Martínez Martínez, Laura, Fernández de Gamarra-Martínez, Edurne, de la Calle Martín, Oscar, Badell Serra, Isabel

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Non-myeloablative hematopoietic stem cell transplantation in the treatment of severe idiopathic CD4+ lymphocytopenia: Stem cell transplantation for CD4 lymphocytopenia von Cervera, Carlos, Fernández-Avilés, Francesc, de la Calle-Martin, Oscar, Bosch, Xavier, Rovira, Montserrat, Plana, Montse, Moreno, Asunción, García, Felipe, Miró, Jose M., Martínez, Antonio, Gallart, Teresa, Carreras, Enric, Blade, Joan, Gatell, Jose M.

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Cost-effectiveness analysis of HLA-B5701 typing in the prevention of hypersensitivity to abacavir in HIV+ patients in Spain von Nieves Calatrava, Diana, Calle-Martín, Óscar de la, Iribarren-Loyarte, José A, Rivero-Román, Antonio, García-Bujalance, Laura, Pérez-Escolano, Isabel, Brosa-Riestra, Max

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A Novel Mutation in the TAP2 Gene in Bare Lymphocyte Syndrome: Association With Metastatic Cutaneous Squamous Cell Carcinoma von España, Agustín, González-Santesteban, Cecilia, Martínez-Martínez, Laura, Bauzá, Ana, de la Calle-Martín, Oscar

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Loss of heterozygosity of p53 gene and p53 protein expression in human colorectal carcinomas von CAMPO, E, DE LA CALLE-MARTIN, O, MIQUEL, R, PALACIN, A, ROMERO, M, FABREGAT, V, VIVES, J, CARDESA, A, YAGUE, J

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Langerhans cell deficiency in reticular dysgenesis von EMILE, J.-F, GEISSMANN, F, CASANOVA, J.-L, FISCHER, A, DE LA CALLE MARTIN, O, RADFORD-WEISS, I, LEPELLETIER, Y, HEYMER, B, ESPANOL, T, DE SANTES, K. B, BERTRAND, Y, BROUSSE, N

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