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
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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

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https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3954

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.

Autor: El-Sayed ZA; Pediatric Allergy and Immunology Unit, Children's Hospital, Ain Shams University, Cairo, Egypt., Abramova I; Department of Immunology, National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Aldave JC; Primary Immunodeficiency Unit, Allergy and Immunology Division, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru., Al-Herz W; Department of Pediatrics, Faculty of Medicine, Kuwait University, Allergy and Clinical Immunology Unit, Al-Sabah Hospital, Kuwait City, Kuwait., Bezrodnik L; Immunology Unit Hospital de Niños Ricardo Gutiérrez and CIC (Clinical Immunology Center), CABA, Buenos Aires, Argentina., Boukari R; Department of Immunology, Institut Pasteur d'Algérie, Faculty of Medicine, Algiers, Algeria., Bousfiha AA; Clinical Immunology Unit, P1, Ibn Rushd Hospital, Laboratoire d'Immunologie Clinique, Inflammation et Allergie LICIA and Medicine and Pharmacy Faculty of Hassan II University, Casablanca, Morocco., Cancrini C; University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens' Hospital Bambino Gesù, 'University of Rome Tor Vergata', Rome, Italy., Condino-Neto A; Department of Immunology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo - Sp, Brazil., Dbaibo G; Division of Pediatric Infectious Diseases and Center for Infectious Diseases Research, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon., Derfalvi B; Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada., Dogu F; Ankara University School of Medicine, Department of Pediatric Immunology and Allergy, Ankara, Turkey., Edgar JDM; The Royal Hospitals & Queen's University Belfast, United Kingdom., Eley B; Paediatric Infectious Diseases Unit, Red Cross War Memorial Children's Hospital and the Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa., El-Owaidy RH; Pediatric Allergy and Immunology Unit, Children's Hospital, Ain Shams University, Cairo, Egypt., Espinosa-Padilla SE; The Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico., Galal N; Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt., Haerynck F; Primary Immunodeficiency Research Lab, Ghent University, Belgium.; Centre for Primary Immunodeficiency, Department of Pediatric Pulmonology and Immunology, Ghent University Hospital, Belgium., Hanna-Wakim R; Division of Pediatric Infectious Diseases and Center for Infectious Diseases Research, Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon., Hossny E; Pediatric Allergy and Immunology Unit, Children's Hospital, Ain Shams University, Cairo, Egypt., Ikinciogullari A; Ankara University School of Medicine, Department of Pediatric Immunology and Allergy, Ankara, Turkey., Kamal E; Department of Microbiology, Parasitology and Immunology, Faculty of Medicine, University of Khartoum, Sudan., Kanegane H; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan., Kechout N; Department of Immunology, Institut Pasteur d'Algérie, Faculty of Medicine, Algiers, Algeria., Lau YL; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan., Morio T; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China., Moschese V; Pediatric Immunopathology and Allergology Unit, Tor Vergata University Hospital, University of Rome Tor Vergata, Rome, Italy., Neves JF; Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central and CEDOC Nova Medical School, Lisboa, Portugal., Ouederni M; Pediatric Immuno-hematology Unit, Bone Marrow Transplantation Center, University Tunis El Manar, Faculty of Medicine, Tunis, Tunisia., Paganelli R; Department of Medicine and Sciences of Aging, University 'G. d'Annunzio' of Chieti-Pescara, Italy., Paris K; LSU Health Sciences Center, New Orleans, LA, USA., Pignata C; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy., Plebani A; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia, Brescia, Italy., Qamar FN; Department of Pediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Qureshi S; Department of Pediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Radhakrishnan N; Department of Pediatric Hematology Oncology, Super Speciality Pediatric Hospital and PG Teaching Institute, Noida, India., Rezaei N; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, and Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran., Rosario N; Federal University of Parana, Curitiba, Brazil., Routes J; Division of Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., Sanchez B; Servicio de Inmunología, Hospital Universitario Virgen del Rocío, Seville, Spain., Sediva A; Department of Immunology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Seppanen MR; Rare Diseases Center, Children's Hospital and Adult Immunodeficiency Unit, Infectious Diseases, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Serrano EG; The Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico., Shcherbina A; Department of Immunology, National Medical and Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Singh S; Department of Pediatrics and Chief, Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India., Siniah S; Paediatric Institute Kuala Lumpur General Hospital, Kuala Lumpur, Malaysia.; Department of Allergy and Immunology, The Royal Children's Hospital Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia., Spadaro G; LSU Health Sciences Center, New Orleans, LA, USA., Tang M; The University of Melbourne, Australia., Vinet AM; Hospital HHA, Universidad de la Frontera, Temuco, Chile., Volokha A; Department of Pediatric Infectious Diseases and Immunology, Shupyk National Medical Academy of Postgraduate Education and Center for Clinical Immunology, City Children's Hospital N1, Kiev, Ukraine., Sullivan KE; Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Publikováno v: The World Allergy Organization journal [World Allergy Organ J] 2019 Mar 22; Vol. 12 (3), pp. 100018. Date of Electronic Publication: 2019 Mar 22 (Print Publication: 2019).

International survey on skin patch test procedures, attitudes and interpretation.

Autor: Tanno LK; Hospital Sírio Libanês and Post-graduation Program in Health Sciences of IAMSPE, Rua Prof Arthur Ramos, 183, cj 21 01454-011, São Paulo, SP Brazil., Darlenski R; Department of Dermatolgy and Venereology, Tokuda Hospital Sofia, Sofia, Bulgaria., Sánchez-Garcia S; Allergy Department. Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Bonini M; Department of Public Health and Infectious Diseases, 'Sapienza' University of Rome, Rome, Italy., Vereda A; Allergy Clinic, Paris, 75015 France., Kolkhir P; Department of Dermatology and Venereology, Sechenov First Moscow State Medical University, Moscow, Russia., Antolin-Amerigo D; Immune System Diseases and Oncology Service-Allergy Unit. Hospital Universitario Príncipe de Asturias, Medicine and Medical Specialities Department, Universidad de Alcalá. Alcalá de Henares, Madrid, Spain., Dimov V; Department of Allergy and Immunology, Cleveland Clinic Florida, 2950 Cleveland Clinic Blvd Weston, Florida, FL 33331 USA., Gallego-Corella C; Medicine Faculty, Xochicalco University, Tijuana, Mexico., Becerra JC; Allergy and Immunology Division, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru., Diaz A; Department of Allergy, Medical Center, Guira de Melena, Havana, Cuba., Linares VB; Intercenter Allergy Unit, Virgen Macarena University Hospital, Seville, Spain., Villa L; Sanatorio Privado San Roque, Marcos Juárez, Córdoba Argentina., Rosenwasser LJ; Department of Pediatrics, Division of Immunology Research, Children's Mercy Hospitals & Clinics, Kansas City, MO 64108 USA., Sanchez-Borges M; Allergy and Clinical Immunology Department, Centro Medico Docente La Trinidad, Caracas, Venezuela., Ansotegui I; Department of Allergy and Immunology, Hospital Quirón Bizkaia, Bizkaia, Spain., Pawankar R; Division of Allergy, Department of Pediatrics, Nippon Medical School, Tokyo, Japan., Bieber T; Department of Dermatology and Allergy, Rheinische Friedrich-Wilhelms-University Bonn, Bonn, Germany.

Publikováno v: The World Allergy Organization journal [World Allergy Organ J] 2016 Mar 04; Vol. 9, pp. 8. Date of Electronic Publication: 2016 Mar 04 (Print Publication: 2016).

A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation.

Autor: Aldave JC; Allergy and Immunology Division, Hospital Nacional Edgardo Rebagliati Martins, Calle Manuel Candamo 257, Lince, Lima, Peru, jucapul_84@hotmail.com., Cachay E, Núñez L, Chunga A, Murillo S, Cypowyj S, Bustamante J, Puel A, Casanova JL, Koo A

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2013 Nov; Vol. 33 (8), pp. 1273-5. Date of Electronic Publication: 2013 Oct 09.