Relevance of biallelic vs monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

Autor: Salzer, US, Bacchelli, C, Buckridge, S, Pan-Hammar-Strom, Q, Jennings, S, Lougaris, V, Bergbreiter, A, Hagena, T, Birmelin, J, Plebani, A, Webster, ADB, Peter, HH, Suez, D, Chapel, H, Maclean-Tooke, A, Spickett, GP, Anover-Sombke, S, Ochs, HD, Urschel, S, Belohradsky, BH, Ugrinovic, S, Kumararatne, DS, Lawrence, TC, Holm, AM, Franco, JL, Schulze, I, Schneider, P, Gertz, ME, Schaeffer, AA, Hammarstrom, L, Thrasher, AJ

Publikováno v: CLINICAL AND EXPERIMENTAL IMMUNOLOGY. 154

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::bef5f851498d853c8543584e72be5e29
http://ora.ox.ac.uk/objects/uuid:ddc03684-c32d-4f02-bdbd-6d2a002bd3ee

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

Autor: Engelhardt KR; Department of Immunology and Molecular Pathology, Royal Free Hospital and University College London, London, United Kingdom; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany; Institute of Cellular Medicine, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom., Gertz ME; National Center for Biotechnology Information, National Institutes of Health, Department of Health and Human Services, Bethesda, Md., Keles S; Division of Immunology, Allergy and Rheumatology, Department of Pediatrics, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, Calif; Division of Pediatric Allergy and Immunology, Konya Necmettin Erbakan University, Konya, Turkey; Division of Immunology, Children's Hospital, Boston, Mass., Schäffer AA; National Center for Biotechnology Information, National Institutes of Health, Department of Health and Human Services, Bethesda, Md., Sigmund EC; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany., Glocker C; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany., Saghafi S; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran., Pourpak Z; Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran., Ceja R; Division of Immunology, Allergy and Rheumatology, Department of Pediatrics, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, Calif; Division of Immunology, Children's Hospital, Boston, Mass., Sassi A; Laboratory of Immunology, Vaccinology, and Molecular Genetics, Pasteur Institute of Tunis and University of Tunis el Manar, Tunis, Tunisia., Graham LE; Department of Immunology and Molecular Pathology, Royal Free Hospital and University College London, London, United Kingdom., Massaad MJ; Division of Immunology, Children's Hospital, Boston, Mass., Mellouli F; Department of Pediatrics, Bone Marrow Transplantation Center, Tunis, Tunisia., Ben-Mustapha I; Laboratory of Immunology, Vaccinology, and Molecular Genetics, Pasteur Institute of Tunis and University of Tunis el Manar, Tunis, Tunisia., Khemiri M; Department of Pediatrics, Children's Hospital, Tunis, Tunisia., Kilic SS; Department of Pediatric Immunology, Faculty of Medicine, Uludag University, Bursa, Turkey., Etzioni A; Meyer's Children Hospital, Rambam Health Care Campus and Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Freeman AF; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, Md., Thiel J; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany., Schulze I; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany., Al-Herz W; Department of Pediatrics, Faculty of Medicine, Kuwait University and Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait., Metin A; Pediatric Immunology Unit, SB Ankara Diskapi Children's Hospital, Ankara, Turkey., Sanal Ö; Immunology Division, Hacettepe University, Children's Hospital, Ankara, Turkey., Tezcan I; Immunology Division, Hacettepe University, Children's Hospital, Ankara, Turkey., Yeganeh M; Immunology Asthma and Allergy Research Institute, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Niehues T; HELIOS Klinikum Krefeld, Zentrum für Kinder- und Jugendmedizin, Krefeld, Germany., Dueckers G; HELIOS Klinikum Krefeld, Zentrum für Kinder- und Jugendmedizin, Krefeld, Germany., Weinspach S; Department of Pediatric Oncology, Hematology and Clinical Immunology, Center of Child and Adolescent Medicine, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Patiroglu T; Department of Pediatrics, Division of Pediatric Hematology and Immunology, Erciyes University, Faculty of Medicine, Kayseri, Turkey., Unal E; Department of Pediatrics, Division of Pediatric Hematology and Oncology, Erciyes University, Faculty of Medicine, Kayseri, Turkey., Dasouki M; Department of Pediatrics, University of Kansas Medical Center, Kansas City, Mo., Yilmaz M; Cukurova University, Adana, Turkey., Genel F; Division of Pediatric Immunology, Behcet Uz State Hospital, Izmir, Turkey., Aytekin C; Department of Pediatric Immunology, Dr Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey., Kutukculer N; Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey., Somer A; Division of Infectious Diseases and Immunology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Kilic M; Firat University, Elazig, Turkey., Reisli I; Division of Pediatric Allergy and Immunology, Konya Necmettin Erbakan University, Konya, Turkey., Camcioglu Y; Division of Pediatric Allergy-Immunology and Infectious Diseases, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey., Gennery AR; Institute of Cellular Medicine, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom., Cant AJ; Institute of Cellular Medicine, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom., Jones A; Department of Immunology, Great Ormond Street Hospital, London, United Kingdom., Gaspar BH; Department of Immunology, Great Ormond Street Hospital, London, United Kingdom., Arkwright PD; University of Manchester, Royal Manchester Children's Hospital, Manchester, United Kingdom., Pietrogrande MC; Department of Pediatrics, University of Milan, Fondazione Policlinico IRCCS, Milan, Italy., Baz Z; Department of Pediatrics, St George Hospital University Medical Center, Beirut, Lebanon., Al-Tamemi S; Department of Pediatrics, Sultan Qaboos University, Muscat, Oman., Lougaris V; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Brescia, Italy., Lefranc G; University Montpellier 2 and CNRS Institute of Human Genetics, Montpellier, France., Megarbane A; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon., Boutros J; Cairo University, Specialized Pediatric Hospital, Primary Immunodeficiency Clinic, Cairo, Egypt., Galal N; Cairo University, Specialized Pediatric Hospital, Primary Immunodeficiency Clinic, Cairo, Egypt., Bejaoui M; Department of Pediatrics, Bone Marrow Transplantation Center, Tunis, Tunisia., Barbouche MR; Laboratory of Immunology, Vaccinology, and Molecular Genetics, Pasteur Institute of Tunis and University of Tunis el Manar, Tunis, Tunisia., Geha RS; Division of Immunology, Children's Hospital, Boston, Mass., Chatila TA; Division of Immunology, Allergy and Rheumatology, Department of Pediatrics, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, Calif; Division of Immunology, Children's Hospital, Boston, Mass., Grimbacher B; Department of Immunology and Molecular Pathology, Royal Free Hospital and University College London, London, United Kingdom; Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany. Electronic address: bodo.grimbacher@uniklinik-freiburg.de.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2015 Aug; Vol. 136 (2), pp. 402-12. Date of Electronic Publication: 2015 Feb 25.