Mutations in the Fas gene found in Spanish ALPS (autoimmune lymphoproliferative syndrome) patients

Autor: Orta M, Rubiales M V, González-Santesteban C, Martínez-Martínez L, Badell I, de la Calle-Martin O

Publikováno v: Journal of Translational Medicine, Vol 8, Iss Suppl 1, p P20 (2010)

Externí odkaz: https://doaj.org/article/e0012687ba3245ef82f2b934927df2b8

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

Autor: Leiding, JW, Okada, S, Hagin, D, Abinun, M, Shcherbina, A, Balashov, DN, Kim, VHD, Ovadia, A, Guthery, SL, Pulsipher, M, Lilic, D, Devlin, LA, Christie, S, Depner, M, Fuchs, S, van Royen-Kerkhof, A, Lindemans, C, Petrovic, A, Sullivan, KE, Bunin, N, Kilic, SS, Arpaci, F, de la Calle-Martin, O, Martinez-Martinez, L, Aldave, JC, Kobayashi, M, Ohkawa, T, Imai, K, Iguchi, A, Roifman, CM, Gennery, AR, Slatter, M, Ochs, HD, Morio, T, Torgerson, TR, Inborn Errors Working Party, European Soc Blood Marrow, Primary Immune Deficiency

Publikováno v: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Background: Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::1af22e603ade6f55ed89266cc666c46e
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3954

From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family

Autor: Martinez-Martinez, L, Vazquez-Ortiz, M, Gonzalez-Santesteban, C, Martin-Nalda, A, Vicente, A, Plaza, AM, Badell, I, Alsina, L, de la Calle-Martin, O

Publikováno v: PEDIATRIC ALLERGY AND IMMUNOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Background: Mutations in RAG genes cause a spectrum of severe immunodeficiencies ranging from Severe Combined Immunodeficiency (SCID) T-B-NK+ to Omenn syndrome (OS) through intermediate phenotypes, even for the same alteration. Nowadays, hematopoieti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2b7e62bc86689dd1da5f734219e2dbd3
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11056

Cost-effectiveness analysis of HLA-B*5701 typing in the prevention of hypersensitivity to abacavir in HIV plus patients in Spain

Autor: Calatrava, DN, de la Calle-Martin, O, Iribarren-Loyarte, JA, Rivero-Roman, A, Garcia-Bujalance, L, Perez-Escolano, I, Brosa-Riestra, M

Publikováno v: ENFERMEDADES INFECCIOSAS Y MICROBIOLOGIA CLINICA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Introduction: Approximately 4% to 8% of patients with HIV-1 treated with abacavir present a hypersensitivity reaction (HSR). Various studies have shown a direct association between human leukocyte antigen (HLA)-B*5701 and HSR to abacavir. The objecti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::bf9069b29aec7d669233319c6829312c
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12466

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