CD62-L down-regulation after L18-MDP stimulation as a complementary flow cytometry functional assay for the diagnosis of XIAP deficiency.

Autor: Rizzo AD; Laboratory Division, Cellular Immunology Laboratory, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Sanz M; Laboratory Division, Cellular Immunology Laboratory, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Roffe G; Laboratory Division, Cellular Immunology Laboratory, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Sajaroff EO; Laboratory Division, Cellular Immunology Laboratory, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Prado DA; Laboratory Division, Cellular Immunology Laboratory, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Prieto E; Immunology and Rheumatology Division, Molecular Immunology Laboratory, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Goris V; Immunology and Rheumatology Division, Molecular Immunology Laboratory, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Rossi JG; Laboratory Division, Cellular Immunology Laboratory, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Bernasconi AR; Laboratory Division, Cellular Immunology Laboratory, Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.

Publikováno v: Cytometry. Part B, Clinical cytometry [Cytometry B Clin Cytom] 2024 Sep; Vol. 106 (5), pp. 383-391. Date of Electronic Publication: 2024 May 21.

Pregnancy in Renal Allograft Recipients: Department of Nephrology and Department of Obstetrics. Hospital Juan A Fernández. Buenos Aires. Argentina. Bernasconi AR; Lapidus AM; Voto L; Gerszten A; Heguilén RM

Publikováno v: In American Journal of Kidney Diseases April 2001 37(4):A13-A13

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

Autor: van de Geer A; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Nieto-Patlán A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Department of Immunology, National School of Biological Science, National Polytechnic Institute, ENCB - IPN, Mexico., Kuhns DB; Neutrophil Monitoring Laboratory, Clinical Services Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA., Tool AT; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Arias AA; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.; School of Microbiology, University of Antioquia, Medellin, Colombia., Bouaziz M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., de Boer M; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Franco JL; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and., Gazendam RP; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., van Hamme JL; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., van Houdt M; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., van Leeuwen K; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Verkuijlen PJ; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., van den Berg TK; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.; Department of Molecular Cell Biology and Immunology, VU Medical Center, VU University, Amsterdam, Netherlands., Alzate JF; National Center for Genomic Sequencing - CNSG-SIU, School of Medicine, University of Antioquia, Medellin, Colombia., Arango-Franco CA; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.; School of Microbiology, University of Antioquia, Medellin, Colombia., Batura V; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada., Bernasconi AR; Service of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina., Boardman B; Department of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom., Booth C; Department of Immunology, Great Ormond Street Hospital, NHS Foundation Trust, London, United Kingdom., Burns SO; Institute of Immunity and Transplantation, University College London, London, United Kingdom.; Department of Clinical Immunology, Royal Free London, NHS Foundation Trust, London, United Kingdom., Cabarcas F; National Center for Genomic Sequencing - CNSG-SIU, School of Medicine, University of Antioquia, Medellin, Colombia.; SISTEMIC Group, Electronic Engineering Department, University of Antioquia, Medellin, Colombia., Bensussan NC; Laboratory of Intestinal Immunity, INSERM U1163, Imagine Institute, Paris, France.; GENIUS group (GENetically ImmUne-mediated enteropathieS) of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Paris Descartes University, Paris, France., Charbit-Henrion F; Laboratory of Intestinal Immunity, INSERM U1163, Imagine Institute, Paris, France.; GENIUS group (GENetically ImmUne-mediated enteropathieS) of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Paris Descartes University, Paris, France.; Pediatric Gastroenterology, Hepatology and Nutrition Unit, AP-HP, Necker Hospital for Sick Children, Paris, France., Corveleyn A; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., Azcoiti ME; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Department of Immunology, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina., Foell D; Department of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany., Gallin JI; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Maryland, USA., Garcés C; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and., Guedes M; Department of Pediatrics, Santo Antonio Hospital, Porto, Portugal., Hinze CH; Department of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany., Holland SM; Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA., Hughes SM; Department of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom., Ibañez P; Inflammatory Bowel Disease Program, Gastroenterology Department, Clinic Las Condes Medical Center, University of Chile, Santiago de Chile, Chile., Malech HL; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Maryland, USA., Meyts I; Department of Pediatric Hematology and Oncology and.; Department of Microbiology and Immunology, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Moncada-Velez M; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and., Moriya K; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., Neves E; Department of Immunology, Santo Antonio Hospital, Porto, Portugal., Oleastro M; Service of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina., Perez L; Service of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina., Rattina V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., Oleaga-Quintas C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., Warner N; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, and., Muise AM; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, and.; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada., López JS; Department of Immunology, National School of Biological Science, National Polytechnic Institute, ENCB - IPN, Mexico., Trindade E; Pediatric Gastroenterology Unit, Sao Joao Hospital, Porto, Portugal., Vasconcelos J; Department of Immunology, Santo Antonio Hospital, Porto, Portugal., Vermeire S; Division of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.; Department of Experimental Medicine, KU Leuven, Leuven, Belgium., Wittkowski H; Department of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany., Worth A; Department of Immunology, Great Ormond Street Hospital, NHS Foundation Trust, London, United Kingdom., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Dinauer MC; Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri, USA., Arkwright PD; Department of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom., Roos D; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, New York, USA.; Pediatric Hematology and Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France., Kuijpers TW; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.; Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Amsterdam, Netherlands.; Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2018 Aug 31; Vol. 128 (9), pp. 3957-3975. Date of Electronic Publication: 2018 Aug 06.

Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.

Autor: Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg ND, Meffre E, Gelfand EW, Snow AL, Milner JD

Publikováno v: Nature genetics [Nat Genet] 2017 Oct 27; Vol. 49 (11), pp. 1661.

Chromosome-1 abnormalities in Childhood B-Lymphoblastic Leukemia - An analysis with reference to clinical variables and survival outcome.

Autor: Mansoor, Neelum¹ neelum.mansoor@tih.org.pk, Rafiq, Naila², Jamal, Saba³, Ehsan, Aamir⁴

Publikováno v: Pakistan Journal of Medical Sciences. 2024 Supplement, Vol. 40, pS47-S52. 6p.