The European internet-based patient and research database for primary immunodeficiencies: update 2011

Autor: Gathmann B., Binder N., Ehl S., Kindle G., Mahlaoui N., Devergnes N., Brosselin P., Sanal O., Yegin O., Kutukculer N., Kilic S. S., Barlan I. B., Reisly I., Caracseghi F., Santos J. L., Llobet P., Carbone J., Granado L. I. G., Sanchez Ramon S., Tricas L., Matamoros N., Exley A., Kumaratne D., Alwood Z., Grimbacher B., Longhurst H., Knerr V., Bangs C., Boardman B., Tierney P., Chapel H., Notarangelo L. D., Plebani A., PIGNATA, CLAUDIO, Nickel R., Schauer U., Spath B., Caiser P., Roisler J., Bieneman K., Line R., Schubert R., El Helou S., Ritterbusch H., Goldacker S., Duckers G., Fabhauer M., Borte M., Notheis G., Belohradsky B. H., Sollinger F., Classen C. F., Apel K., Steinmann S., Muglich C., Szaflarska A., Bernatowska E., Heropolitansca E., Kuijpers T. W., van Beem R., Galal N. M., Reda S., Farber C. L., Meyts I., Velbri S., Kanariou M., Farmaki E., Papadopoulou Alataki E., Trachana M., Richter D., Blaziene A., Seidel M., Marques L., Feighery C., Cucuruz M., Konoplyannikova J., Paschenko O., Shcherbina A., Berglof A., Jardefors H., Wargstrom P., Brodszki N., Cantoni N., Dupenthaler A., Fahrni G., Hoernes M., Sahbacher U., Pasic S., Ciznar P., Jeverica A. K., Litzman J., Hlavackova E., Savchak I., Farkas H., Marodi L.

In order to build a common data pool and estimate the disease burden of primary immunodeficiencies (PID) in Europe, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::fb433d2a6b74d41a4ba5638274f5db59
http://hdl.handle.net/11588/461322

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

Autor: Gathmann, B., Mahlaoui, N., Gerard, L., Oksenhendler, E., Warnatz, K., Schulze, I., Kindle, G., Kuijpers, T.W., Dutch, W.I.D., Beem, R.T. van, Guzman, D., Workman, S., Soler-Palacin, P., Gracia, J., Witte, T. de, Schmidt, R.E., Litzman, J., Hlavackova, E., Thon, V., Borte, M., Borte, S., Kumararatne, D., Feighery, C., Longhurst, H., Helbert, M., Szaflarska, A., Sediva, A., Belohradsky, B.H., Jones, A., Baumann, U., Meyts, I., Kutukculer, N., Wagstrom, P., Galal, N.M., Roesler, J., Farmaki, E., Zinovieva, N., Ciznar, P., Papadopoulou-Alataki, E., Bienemann, K., Velbri, S., Panahloo, Z., Grimbacher, B., Meer, L.T. van der, Deuren, M. van, Netea, M.G., Meer, J.W.M. van der

Publikováno v: Journal of Allergy and Clinical Immunology, 134, 1, pp. 116-26
Journal of allergy and clinical immunology, 134(1), 116-126. Mosby Inc.
Journal of Allergy and Clinical Immunology, 134, 116-26
Journal of Allergy and Clinical Immunology, 134(1), 116

Item does not contain fulltext BACKGROUND: Common variable immunodeficiency (CVID) is an antibody deficiency with an equal sex distribution and a high variability in clinical presentation. The main features include respiratory tract infections and th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b01c463630282d64d9be1c11ddd9f0ef
https://hdl.handle.net/2066/137640

Clinical picture and treatment of 2212 patients with common variable immunodeficiency.

Autor: Gathmann B; Center for Chronic Immunodeficiency (CCI), University Medical Centre Freiburg and University of Freiburg, Freiburg, Germany., Mahlaoui N; Assistance Publique-Hôpitaux de Paris, Service d'Immuno-Hématologie Pédiatrique, Hôpital Universitaire Necker-Enfants Malades, Paris, France, Assistance Publique-Hôpitaux de Paris, CEREDIH, Centre de Référence des Déficits Immunitaires Héréditaires, Hôpital Universitaire Necker-Enfants Malades, Paris, France, and Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France., Gérard L; Department of Clinical Immunology, Hôpital Saint-Louis, AP-HP and Univ Paris Diderot, Sorbonne Paris Cité, EA3963, Paris, France, Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Paris, France, and the DEFI study group., Oksenhendler E; Department of Clinical Immunology, Hôpital Saint-Louis, AP-HP and Univ Paris Diderot, Sorbonne Paris Cité, EA3963, Paris, France, Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Paris, France, and the DEFI study group., Warnatz K; Center for Chronic Immunodeficiency (CCI), University Medical Centre Freiburg and University of Freiburg, Freiburg, Germany., Schulze I; Center for Chronic Immunodeficiency (CCI), University Medical Centre Freiburg and University of Freiburg, Freiburg, Germany., Kindle G; Center for Chronic Immunodeficiency (CCI), University Medical Centre Freiburg and University of Freiburg, Freiburg, Germany., Kuijpers TW; Dutch Working Party for Immunodeficiencies (WID), Amsterdam, The Netherlands., van Beem RT; Medical Department Sanquin Blood Supply Foundation, Amsterdam, The Netherlands., Guzman D; UCL Medical School Royal Free Campus and Royal Free Hospital NHS Foundation Trust, London, United Kingdom., Workman S; UCL Medical School Royal Free Campus and Royal Free Hospital NHS Foundation Trust, London, United Kingdom., Soler-Palacín P; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Vall d'Hebron Research Institute, Barcelona, Spain., De Gracia J; Department of Pneumology, Hospital Universitari Vall d'Hebron, UAB, CIBER Enfermedades Respiratorias (CIBERES), Barcelona, Spain., Witte T; Clinic for Immunology and Rheumatology, Medical University Hannover, Hannover, Germany., Schmidt RE; Clinic for Immunology and Rheumatology, Medical University Hannover, Hannover, Germany., Litzman J; Department of Clinical Immunology and Allergology, Faculty of Medicine, Masaryk University and St Anne's University Hospital, Brno, Czech Republic., Hlavackova E; St Anne's University Hospital, Brno, Czech Republic., Thon V; Department of Clinical Immunology and Allergy, Faculty of Medicine, Masaryk University, Brno, Czech Republic., Borte M; Children's Hospital, Municipal Hospital 'St Georg,' Academic Teaching Hospital of the University of Leipzig, Leipzig, Germany., Borte S; Children's Hospital, Municipal Hospital 'St Georg,' Academic Teaching Hospital of the University of Leipzig, Leipzig, Germany; Translational Centre for Regenerative Medicine, University of Leipzig, Leipzig, Germany., Kumararatne D; Department of Clinical Biochemistry and Immunology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Feighery C; Department of Immunology, St James's Hospital Dublin and Trinity College Dublin, Dublin, Ireland., Longhurst H; Department of Immunology, Barts Health NHS Trust, London, United Kingdom., Helbert M; Central Manchester and Manchester Children's University Hospitals NHS Trust, Manchester, United Kingdom., Szaflarska A; Children University Hospital, Krakow, Poland., Sediva A; Department of Immunology, 2nd School of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic., Belohradsky BH; Dr v. Haunersches Kinderspital, Ludwig Maximilians University, Munich, Germany., Jones A; Institute of Child Health/Great Ormond Street Hospital, London, United Kingdom., Baumann U; Immunology Unit, Paediatric Pulmonology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany., Meyts I; Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium., Kutukculer N; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey., Wågström P; Department of Infectious Diseases, County Hospital Ryhov Jönköping, Jönköping, Sweden., Galal NM; Primary Immunodeficiency Clinic, Department of Pediatrics, Cairo University, Cairo, Egypt., Roesler J; Department of Pediatrics, University Hospital Dresden, Dresden, Germany., Farmaki E; Pediatric Immunology and Rheumatology Referral Centre, First Department of Pediatrics, Ippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece., Zinovieva N; Research and Clinical Centre for Pediatric Hematology, Oncology, Immunology, Moscow, Russia., Ciznar P; 1st Pediatric Department, Faculty of Medicine, Comenius University and Children University Hospital, Bratislava, Slovakia., Papadopoulou-Alataki E; Aristotle University of Thessaloniki, Fourth Department of Pediatrics, Papageorgiou Hospital, Thessaloniki, Greece., Bienemann K; Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany., Velbri S; Tallinn Children's Hospital, Tallinn, Estonia., Panahloo Z; Medical Science Department, CSL Behring, West Sussex, United Kingdom., Grimbacher B; Center for Chronic Immunodeficiency (CCI), University Medical Centre Freiburg and University of Freiburg, Freiburg, Germany; UCL Medical School Royal Free Campus and Royal Free Hospital NHS Foundation Trust, London, United Kingdom. Electronic address: bodo.grimbacher@uniklinik-freiburg.de.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2014 Jul; Vol. 134 (1), pp. 116-26. Date of Electronic Publication: 2014 Feb 28.

Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review.

Autor: Xu, Hui-Hui^1,2 (AUTHOR) hui739@163.com, Zhang, Yang² (AUTHOR), He, Zhe-Hang² (AUTHOR), Di, Xing-Hong² (AUTHOR), Pan, Fei-Yan² (AUTHOR), Shi, Wei-Wu^1,2 (AUTHOR) shiww@enzemed.com

Publikováno v: BMC Medical Genomics. 5/22/2023, Vol. 16 Issue 1, p1-13. 13p.

Urinary iodine excretion in Estonian children.

Autor: Veinpalu M, Ambos A, Velbri S, Vaher Y, Podar T

Publikováno v: European journal of endocrinology [Eur J Endocrinol] 1996 Aug; Vol. 135 (2), pp. 248.