491 results on '"Abinun M"'
Search Results
52. Autologous stem cell transplantation for severe juvenile idiopathic arthritis: a multicentre survey
- Author
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Wulffraat, N., de Kleer, I., Brinkman, D., Ferster, A., Wedderburn, L., Horneff, G., Veys, P., Bredius, R., Prieur, A., Abinun, M., Zintl, F., TenCate, R., and Kuis, W.
- Published
- 2004
53. Widespread idiopathic pyoderma gangrenosum in infancy treated successfully with infliximab
- Author
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DAS, S., PATWARDHAN, K., TAYLOR, A. E. M., CARMICHAEL, A. J., and ABINUN, M.
- Published
- 2003
54. Assessing immune responses to pneumococcal vaccines
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Lakshman, R, Gennery, A R, Arkwright, P D, Flood, T, Abinun, M, Spickett, G, Borrows, R, Cant, A J, Balmer, P, and Borrow, R
- Published
- 2003
55. LONG-TERM MOLECULAR FOLLOW UP OF IMMUNE REPERTOIRE AFTER SEVERE IMMUNOSUPPRESSION AND AUTOLOGOUS STEM CELL RESCUE IN CHILDREN WITH JUVENILE IDIOPATHIC ARTHRITIS (JIA)
- Author
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Wedderburn, L R, Patel, A, King, D J, Foster, H E, and Abinun, M
- Published
- 2003
56. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO
- Author
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Carrol, E D, Gennery, A R, Flood, T J, Spickett, G P, and Abinun, M
- Published
- 2003
57. Bone marrow transplantation does not correct the hyper IgE syndrome
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Gennery, AR, Flood, TJ, Abinun, M, and Cant, AJ
- Published
- 2000
- Full Text
- View/download PDF
58. Dental manifestations in severe combined immunodeficiency following bone marrow transplantation
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Cole, BOI, Welbury, RR, Bond, E, and Abinun, M
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- 2000
- Full Text
- View/download PDF
59. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome
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Gennery, A R, Barge, D, OʼSullivan, J J, Flood, T J, Abinun, M, and Cant, A J
- Published
- 2002
60. Neonatal bone marrow transplantation for severe combined immunodeficiency
- Author
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Kane, L, Gennery, A R, Crooks, B N A, Flood, T J, Abinun, M, and Cant, A J
- Published
- 2001
61. Bone marrow transplantation for CD40 ligand deficiency: a single centre experience
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Khawaja, K, Gennery, A R, Flood, T J, Abinun, M, and Cant, A J
- Published
- 2001
62. Monitoring and patient/family awareness on the use of methotrexate (MTX) in juvenile idiopathic arthritis (JIA)
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Swift, A., Adnan, Z., Abinun, M., and Foster, H.
- Published
- 2001
63. HUMORAL DYSREGULATION IN 22Q11 DELETION SYNDROME
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Gennery, A R, Flood, T J, Abinun, M, and Cant, A J
- Published
- 1999
64. Importance of neurological assessment before bone marrow transplantation for osteopetrosis
- Author
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Abinun, M, Newson, T, Rowe, P W, Flood, T J, and Cant, A J
- Published
- 1999
65. Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations
- Author
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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, and Primary Immune Deficiency
- Subjects
surgical procedures, operative ,hemophagocytic lymphohistiocytosis ,gain of function ,graft-versus-host disease ,chronic mucocutaneous candidiasis ,Hematopoietic stem cell transplantation ,graft rejection ,Janus kinase ,signal transducer and activator of transcription - Abstract
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 mild or severe and life-threatening. Hematopoietic stem cell transplantation (HSCT) has been used in some patients with more severe symptoms to treat and cure the disorder. However, the outcome of HSCT for this disorder is not well established. Objective: We sought to aggregate the worldwide experience of HSCT in patients with GOF-STAT1 mutations and to assess outcomes, including donor engraftment, overall survival, graft-versus-host disease, and transplant-related complications. Methods: Data were collected from an international cohort of 15 patients with GOF-STAT1 mutations who had undergone HSCT-using a variety of conditioning regimens and donor sources. Retrospective data collection allowed the outcome of transplantation to be assessed. In vitro functional testing was performed to confirm that each of the identified STAT1 variants was in fact a GOF mutation. Results: Primary donor engraftment in this cohort of 15 patients with GOF-STAT1 mutations was 74%, and overall survival was only 40%. Secondary graft failure was common (50%), and posttransplantation event-free survival was poor (10% by 100 days). Asubset of patients had hemophagocytic lymphohistiocytosis before transplant, contributing to their poor outcomes. Conclusion: Our data indicate that HSCT for patients with GOF-STAT1 mutations is curative but has significant risk of secondary graft failure and death.
- Published
- 2018
66. Challenges in achieving consensus for vaccination with live attenuated vaccines in children with rheumatological disease – the variability of vaccination practices across the globe
- Author
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Toplak, Nataša, Uziel, Y, Khubchandani, R, Abinun, M, Atsali, E, Bolt, I, Boros, C, Boyko, Y, Calzada- Hernandez, J, Dallos, T, Fingerhutova, S, Gattorno, M, Hentgen, V, Lamot, Lovro, Makay, B, Minden, K, Opoka- Winiarska, V, Orban, I, Pileggi, G, Pruunsild, C, Rusoniene, S, Rygg, M, Scegolevs, A, Vojinović, J, and Wulffraat, N
- Subjects
Vaccination ,rheumatological diseases - Abstract
Introduction: Due to the paucity of randomised controlled studies concerning vaccination in children with rheumatic diseases, the level of evidence for recommendations for vaccinations in these children is low. Booster doses of live attenuated vaccines might be considered in children with rheumatic diseases treated with immunosuppressive therapy, but data from multicentre studies are lacking. Moreover, national vaccination programs, parental obligation to vaccinate their children and vaccine coverage rates vary greatly among countries. Objectives: To highlight differences in the current national vaccination policies, and to develop a platform for future multicentre initiatives for uniform vaccination practices for children with rheumatic diseases treated with immunosuppressive drugs. Methods: The PReS Vaccination working group was formed during the 2017 PReS meeting in Athens. Paediatric rheumatologists from 34 countries were invited to participate. Results: Data were collected from 25 countries who responded. Vaccinations are mandatory in 12/21 European countries (Croatia, Czech Republic, France, Greece, Hungary, Italy, Latvia, Poland, Serbia, Slovakia, Slovenia, Ukraine). The vaccination schedules and coverage differ among countries. The first MMR vaccine is recommended at 11-15 months- of-age in all countries and most recommend the second dose before 2 years-of-age or at 6 years ; however in Spain it is at 2-4 years, in the UK at 3-5 years, and in Hungary, The Netherlands, Estonia, Norway, Poland and Slovakia at the age of 9 years or later. Mandatory programs, as compared to optional vaccination, do not always ensure higher coverage. For example, in Australia, Israel, The Netherlands and Norway where vaccinations are optional, the vaccination rate is high, at around 95%. However, coverage for MMR fell below 95% in Croatia, Czech Republic, Serbia and Slovenia, where vaccination is mandatory. Vaccinations were optional in France and Italy ; however, due to low coverage, they are now mandatory. Conclusion: There are considerable differences amongst countries in vaccination programmes, coverage, and in parental obligation to vaccinate their child. A powerful anti-vaccine campaign has gained momentum in many countries and has resulted in a significant drop in vaccination coverage to a level that is no longer sufficient for herd immunity. This is especially dangerous for children with rheumatic diseases on immunosuppressive therapy. Our future goals are to prospectively examine the outcomes of live vaccination in children with rheumatic diseases who are treated with immunosuppressive drugs and hopefully to demonstrate that booster doses of live attenuated vaccines are safe and protective.
- Published
- 2018
67. PURE RED CELL APLASIA TWO YEARS POST BONE MARROW TRANSPLANTATION FOR SEVERE COMBINED MMUNODEFICIENCY
- Author
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Abinun, M, Saunders, P, Taylor, C, Flood, T J, and Cant, A J
- Published
- 1998
68. 132 Improved survival and outcome of HLA-mismatched donor hematopoietic stem cell transplantation in children with primary immunodeficiencies using new graft manipulation strategies in the UK
- Author
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Elfeky, R, primary, Shah, RM, additional, Unni, MNM, additional, Rao, K, additional, Chiesa, R, additional, Amrolia, P, additional, Worth, A, additional, Flood, T, additional, Abinun, M, additional, Nademi, Z, additional, Hambleton, S, additional, Cant, AJ, additional, Gilmour, K, additional, Adams, S, additional, Ahsan, G, additional, Barge, D, additional, Gennery, AR, additional, Qasim, W, additional, Slatter, M, additional, and Veys, P, additional
- Published
- 2018
- Full Text
- View/download PDF
69. Abnormal technetium labelled white cell scan in the colitis of chronic granulomatous disease
- Author
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Hoare, S, Walsh, J E, Eastham, E, Abinun, M A, and Cant, A J
- Published
- 1997
70. Chronic mucocutaneous candidiasis. II. Class and subclass of specific antibody responses in vivo and in vitro
- Author
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Lilic, D., Calvert, J. E., Cant, A. J., Abinun, M., and Spickett, G. P.
- Published
- 1996
71. Chronic mucocutaneous candidiasis. I. Altered antigen-stimulated IL-2, IL-4, IL-6 and interferon-gamma (IFN-γ) production
- Author
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Lilic, D., Cant, A. J., Abinun, M., Calvert, J. E., and Spickett, G. P.
- Published
- 1996
72. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis
- Author
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Ravelli, A, Minoia, F, Davì, S, Horne, A, Bovis, F, Pistorio, A, Aricò, M, Avcin, T, Behrens, Em, De Benedetti, F, Filipovic, A, Grom, Aa, Henter, J-i, Ilowite, Nte, Jordan, Mb, Khubchandani, R, Kitoh, T, Lehmberg, K, Lovell, Dj, Miettunen, P, Nichols, Ke, Ozen, S, Schmid, Jp, Ramanan, Av, Russo, R, Schneider, R, Sterba, G, Uziel, Y, Wallace, C, Wouters, C, Wulffraat, N, Demirkaya, E, Brunner, Hi, Martini, A, Ruperto, N, Cron, Rq, Angioloni, S, Pallotti, C, Pesce, M, Rinaldi, M, Villa, L, Abinun, M, Aggarwal, A, Akikusa, J, Al-mayouf, Sm, Alessio, M, Anton, J, Apaz, Mt, Astigarraga, I, Ayaz, Na, Barone, P, Bica, B, Bolt, I, Breda, L, Chasnyk, V, Cimaz, R, Corona, F, Cuttica, R, D'Angelo, G, Davidsone, Z, De Cunto, C, De Inocencio, J, Eisenstein, E, Enciso, S, Espada, G, Fischbach, M, Frosch, M, Gallizzi, R, Gamir, Ml, Gao, Y-j, Griffin, T, Hashad, S, Hennon, T, Horneff, G, Huasong, Z, Huber, A, Insalaco, A, Ioseliani, M, Jelusic-drazic, M, Jeng, M, Kapovic, A, Kasapcopur, O, Kone-paut, I, De Oliveira Skf, Lattanzi, B, Lepore, L, Li, C, Lipton, Jm, Magni-manzoni, S, Maritsi, D, Mccurdy, D, Merino, R, Mulaosmanovic, V, Nielsen, S, Pal, P, Prahalad, S, Rigante, Donato, Rumba-rozenfelde, I, Magalhaes, Cs, Sanner, H, Sawhney, S, Sewairi, Wm, Shakoory, B, Shenoi, S, Clovis, As, Stanevicha, V, Stine, Kc, Susic, G, Sztajnbok, F, Takei, S, Tezer, H, Trauzeddel, R, Tsitsami, E, Unsal, E, Vougiouka, O, Weaver, Lk, Weiss, J, Weitzman, S, On Behalf Of The Pediatric Rheumatology International Trials Organization, Zletni M., The Childhood Arthritis & Rheumatology Research Alliance, The Pediatric Rheumatology Collaborative Study Group And The Histiocyte Society, Ravelli, A., Minoia, F., Davi, S., Horne, A., Bovis, F., Pistorio, A., Arico, M., Avcin, T., Behrens, E. M., De Benedetti, F., Filipovic, A., Grom, A. A., Henter, J. -I., Ilowite, N. T., Jordan, M. B., Khubchandani, R., Kitoh, T., Lehmberg, K., Lovell, D. J., Miettunen, P., Nichols, K. E., Ozen, S., Schmid, J. P., Ramanan, A. V., Russo, R., Schneider, R., Sterba, G., Uziel, Y., Wallace, C., Wouters, C., Wulffraat, N., Demirkaya, E., Brunner, H. I., Martini, A., Ruperto, N., Cron, R. Q., Angioloni, S., Pallotti, C., Pesce, M., Rinaldi, M., Villa, L., Abinun, M., Aggarwal, A., Akikusa, J., Al-Mayouf, S. M., Alessio, M., Anton, J., Apaz, M. T., Astigarraga, I., Ayaz, N. A., Barone, P., Bica, B., Bolt, I., Breda, L., Chasnyk, V., Cimaz, R., Corona, F., Cuttica, R., D'Angelo, G., Davidsone, Z., De Cunto, C., De Inocencio, J., Eisenstein, E., Enciso, S., Espada, G., Fischbach, M., Frosch, M., Gallizzi, R., Gamir, M. L., Gao, Y. -J., Griffin, T., Hashad, S., Hennon, T., Horneff, G., Huasong, Z., Huber, A., Insalaco, A., Ioseliani, M., Jelusic-Drazic, M., Jeng, M., Kapovic, A., Kasapcopur, O., Kone-Paut, I., De Oliveira, S. K. F., Lattanzi, B., Lepore, L., Li, C., Lipton, J. M., Magni-Manzoni, S., Maritsi, D., Mccurdy, D., Merino, R., Mulaosmanovic, V., Nielsen, S., Pal, P., Prahalad, S., Rigante, D., Rumba-Rozenfelde, I., Magalhaes, C. S., Sanner, H., Sawhney, S., Sewairi, W. M., Shakoory, B., Shenoi, S., Clovis, A. S., Stanevicha, V., Stine, K. C., Susic, G., Sztajnbok, F., Takei, S., Tezer, H., Trauzeddel, R., Tsitsami, E., Unsal, E., Vougiouka, O., Weaver, L. K., Weiss, J., Weitzman, S., Zletni, M., and Çocuk Sağlığı ve Hastalıkları
- Subjects
medicine.medical_specialty ,systemic juvenile idiopathic arthritis ,Epidemiology ,Immunology ,Arthritis ,Bioinformatics ,03 medical and health sciences ,0302 clinical medicine ,Rheumatology ,Internal medicine ,medicine ,Journal Article ,Immunology and Allergy ,030212 general & internal medicine ,Juvenile Idiopathic Arthritis ,Prospective cohort study ,030203 arthritis & rheumatology ,medicine.diagnostic_test ,business.industry ,Paediatric Rheumatology ,medicine.disease ,Outcomes research ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,Macrophage activation syndrome ,Erythrocyte sedimentation rate ,Absolute neutrophil count ,sense organs ,business - Abstract
OBJECTIVE: To identify which laboratory tests that change over time are most valuable for the timely diagnosis of macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (sJIA).METHODS: A multistep process, based on a combination of expert consensus and analysis of real patient data, was conducted. A panel of experts was first asked to evaluate 115 profiles of patients with MAS, which included the values of laboratory tests at the pre-MAS visit and at MAS onset, and the change in values between the two time points. The experts were asked to choose the 5 laboratory tests in which change was most important for the diagnosis of MAS and to rank the 5 selected tests in order of importance. The relevance of change in laboratory parameters was further discussed and ranked by the same experts at a consensus conference.RESULTS: Platelet count was the most frequently selected test, followed by ferritin level, aspartate aminotransferase (AST), white cell count, neutrophil count, and fibrinogen and erythrocyte sedimentation rate. Ferritin was most frequently assigned the highest score. At the end of the process, platelet count, ferritin level and AST were the laboratory tests in which the experts found change over time to be most important.CONCLUSIONS: We identified the laboratory tests in which change over time is most valuable for the early diagnosis of MAS in sJIA. The dynamics of laboratory values during the course of MAS should be further scrutinised in a prospective study in order to establish the optimal cut-off values for their variation.
- Published
- 2016
73. CAMPATH-1M T-cell depleted BMT for SCID: long-term follow-up of 19 children treated 1987–98 in a single center
- Author
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Gennery, A.R., Dickinson, A.M., Brigham, K., Barge, D., Spickett, G.P., Curtis, A., Spencer, V., Jackson, A., Cavanagh, G., Carter, V., Palmer, P., Flood, T.J., Cant, A.J., and Abinun, M.
- Published
- 2001
- Full Text
- View/download PDF
74. Disseminated $\textit{Mycobacterium malmoense}$ and $\textit{Salmonella}$ Infections Associated with a Novel Variant in $\textit{NFKBIA}$
- Author
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Staples, E, Morillo-Gutierrez, B, Davies, J, Petersheim, D, Massaad, M, Slatter, M, Dimou, D, Doffinger, R, Hackett, S, Kumararatne, D, Hadfield, J, Eldridge, MD, Geha, RS, Abinun, M, Thaventhiran, JED, Eldridge, Matthew [0000-0002-5799-8911], Thaventhiran, James [0000-0001-8616-074X], and Apollo - University of Cambridge Repository
- Subjects
Mycobacterium Infections ,Polymorphism, Genetic ,Genotype ,Fibroblasts ,Mycobacterium ,Pedigree ,NF-KappaB Inhibitor alpha ,Salmonella ,Mutation ,Salmonella Infections ,Humans ,Female ,Child ,Cells, Cultured ,Skin - Published
- 2017
75. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis
- Author
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Ravelli, A, Minoia, F, Davì, S, Horne, A, Bovis, F, Pistorio, A, Aricò, M, Avcin, T, Behrens, Em, De Benedetti, F, Filipovic, A, Grom, Aa, Henter, J-i, Ilowite, Nte, Jordan, Mb, Khubchandani, R, Kitoh, T, Lehmberg, K, Lovell, Dj, Miettunen, P, Nichols, Ke, Ozen, S, Schmid, Jp, Ramanan, Av, Russo, R, Schneider, R, Sterba, G, Uziel, Y, Wallace, C, Wouters, C, Wulffraat, N, Demirkaya, E, Brunner, Hi, Martini, A, Ruperto, N, Cron, Rq, Angioloni, S, Pallotti, C, Pesce, M, Rinaldi, M, Villa, L, Abinun, M, Aggarwal, A, Akikusa, J, Al-mayouf, Sm, Alessio, M, Anton, J, Apaz, Mt, Astigarraga, I, Ayaz, Na, Barone, P, Bica, B, Bolt, I, Breda, L, Chasnyk, V, Cimaz, R, Corona, F, Cuttica, R, D'Angelo, G, Davidsone, Z, De Cunto, C, De Inocencio, J, Eisenstein, E, Enciso, S, Espada, G, Fischbach, M, Frosch, M, Gallizzi, R, Gamir, Ml, Gao, Y-j, Griffin, T, Hashad, S, Hennon, T, Horneff, G, Huasong, Z, Huber, A, Insalaco, A, Ioseliani, M, Jelusic-drazic, M, Jeng, M, Kapovic, A, Kasapcopur, O, Kone-paut, I, De Oliveira, Skf, Lattanzi, B, Lepore, L, Li, C, Lipton, Jm, Magni-manzoni, S, Maritsi, D, Mccurdy, D, Merino, R, Mulaosmanovic, V, Nielsen, S, Pal, P, Prahalad, S, Rigante, Donato, Rumba-rozenfelde, I, Magalhaes, C, Sanner, H, Sawhney, S, Sewairi, Wm, Shakoory, B, Shenoi, S, Clovis, A, Stanevicha, V, Stine, Kc, Susic, G, Sztajnbok, F, Takei, S, Tezer, H, Trauzeddel, R, Tsitsami, E, Unsal, E, Vougiouka, O, Weaver, Lk, Weiss, J, Weitzman, S, Zletni M., On Behalf Of The Pediatric Rheumatology International Trials Organization, The Childhood Arthritis &, Rheumatology Research, Alliance, The Pediatric Rheumatology Collaborative Study Group And The Histiocyte, Society, Rigante D (ORCID:0000-0001-7032-7779), Ravelli, A, Minoia, F, Davì, S, Horne, A, Bovis, F, Pistorio, A, Aricò, M, Avcin, T, Behrens, Em, De Benedetti, F, Filipovic, A, Grom, Aa, Henter, J-i, Ilowite, Nte, Jordan, Mb, Khubchandani, R, Kitoh, T, Lehmberg, K, Lovell, Dj, Miettunen, P, Nichols, Ke, Ozen, S, Schmid, Jp, Ramanan, Av, Russo, R, Schneider, R, Sterba, G, Uziel, Y, Wallace, C, Wouters, C, Wulffraat, N, Demirkaya, E, Brunner, Hi, Martini, A, Ruperto, N, Cron, Rq, Angioloni, S, Pallotti, C, Pesce, M, Rinaldi, M, Villa, L, Abinun, M, Aggarwal, A, Akikusa, J, Al-mayouf, Sm, Alessio, M, Anton, J, Apaz, Mt, Astigarraga, I, Ayaz, Na, Barone, P, Bica, B, Bolt, I, Breda, L, Chasnyk, V, Cimaz, R, Corona, F, Cuttica, R, D'Angelo, G, Davidsone, Z, De Cunto, C, De Inocencio, J, Eisenstein, E, Enciso, S, Espada, G, Fischbach, M, Frosch, M, Gallizzi, R, Gamir, Ml, Gao, Y-j, Griffin, T, Hashad, S, Hennon, T, Horneff, G, Huasong, Z, Huber, A, Insalaco, A, Ioseliani, M, Jelusic-drazic, M, Jeng, M, Kapovic, A, Kasapcopur, O, Kone-paut, I, De Oliveira, Skf, Lattanzi, B, Lepore, L, Li, C, Lipton, Jm, Magni-manzoni, S, Maritsi, D, Mccurdy, D, Merino, R, Mulaosmanovic, V, Nielsen, S, Pal, P, Prahalad, S, Rigante, Donato, Rumba-rozenfelde, I, Magalhaes, C, Sanner, H, Sawhney, S, Sewairi, Wm, Shakoory, B, Shenoi, S, Clovis, A, Stanevicha, V, Stine, Kc, Susic, G, Sztajnbok, F, Takei, S, Tezer, H, Trauzeddel, R, Tsitsami, E, Unsal, E, Vougiouka, O, Weaver, Lk, Weiss, J, Weitzman, S, Zletni M., On Behalf Of The Pediatric Rheumatology International Trials Organization, The Childhood Arthritis &, Rheumatology Research, Alliance, The Pediatric Rheumatology Collaborative Study Group And The Histiocyte, Society, and Rigante D (ORCID:0000-0001-7032-7779)
- Abstract
Objective: To identify which laboratory tests that change over time are most valuable for the timely diagnosis of macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (sJIA). Methods: A multistep process, based on a combination of expert consensus and analysis of real patient data, was conducted. A panel of experts was first asked to evaluate 115 profiles of patients with MAS, which included the values of laboratory tests at the pre-MAS visit and at MAS onset, and the change in values between the two time points. The experts were asked to choose the 5 laboratory tests in which change was most important for the diagnosis of MAS and to rank the 5 selected tests in order of importance. The relevance of change in laboratory parameters was further discussed and ranked by the same experts at a consensus conference. Results: Platelet count was the most frequently selected test, followed by ferritin level, aspartate aminotransferase (AST), white cell count, neutrophil count, and fibrinogen and erythrocyte sedimentation rate. Ferritin was most frequently assigned the highest score. At the end of the process, platelet count, ferritin level and AST were the laboratory tests in which the experts found change over time to be most important. Conclusions: We identified the laboratory tests in which change over time is most valuable for the early diagnosis of MAS in sJIA. The dynamics of laboratory values during the course of MAS should be further scrutinised in a prospective study in order to establish the optimal cut-off values for their variation.
- Published
- 2017
76. Development and initial validation of the macrophage activation syndrome/primary hemophagocytic lymphohistiocytosis score, a diagnostic tool that differentiates primary hemophagocytic lymphohistiocytosis from macrophage activation syndrome
- Author
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Minoia, F, Bovis, F, Davì, S, Insalaco, A, Lehmberg, K, Shenoi, S, Weitzman, S, Espada, G, Gao, Yj, Anton, J, Kitoh, T, Kasapcopur, O, Sanner, H, Merino, R, Astigarraga, I, Alessio, M, Jeng, M, Chasnyk, V, Nichols, Ke, Huasong, Z, Li, C, Micalizzi, C, Ruperto, N, Martini, A, Cron, Rq, Ravelli, A, Horne, A, Abinun, M, Aggarwal, A, Akikusa, J, Al Mayouf, S, Apaz, Mt, Avcin, T, Ayaz, Na, Barone, P, Bica, B, Bolt, I, Breda, L, Cimaz, R, Corona, F, Cuttica, R, Davidsone, Z, De Cunto, C, De Inocencio, J, Demirkaya, E, Eisenstein, Em, Enciso, S, Fischbach, M, Frosch, M, Gallizzi, R, Gamir, Ml, Griffin, T, Grom, A, Hashad, S, Hennon, T, Henter, Ji, Horneff, G, Huber, A, Ilowite, N, Ioseliani, M, Kapović, Am, Khubchandani, R, Koné Paut, I, de Oliveira, Skf, Lattanzi, B, Lepore, L, Lipton, Jm, Magni Manzoni, S, Maritsi, D, Mccurdy, D, Miettunen, P, Mulaosmanovic, V, Nielsen, S, Ozen, S, Pal, P, Prahalad, S, Rigante, Donato, Rumba Rozenfelde, I, Russo, R, Magalhães, C, Sewairi, Wm, Artur Silva, C, Stanevicha, V, Sterba, G, Stine, Kc, Susic, G, Sztajnbok, F, Takei, S, Trauzeddel, R, Tsitsami, E, Unsal, E, Uziel, Y, Vougiouka, O, Wallace, Ca, Weaver, L, Weiss J, E, Wouters, C, Wulffraat, N, Zletni, M, Aricò, M, Egeler, Rm, Filipovich, Ah, Gadner, H, Imashuku, S, Janka, G, Ladisch, S, Mcclain, Kl, Webb, D., Rigante, Donato (ORCID:0000-0001-7032-7779), Minoia, F, Bovis, F, Davì, S, Insalaco, A, Lehmberg, K, Shenoi, S, Weitzman, S, Espada, G, Gao, Yj, Anton, J, Kitoh, T, Kasapcopur, O, Sanner, H, Merino, R, Astigarraga, I, Alessio, M, Jeng, M, Chasnyk, V, Nichols, Ke, Huasong, Z, Li, C, Micalizzi, C, Ruperto, N, Martini, A, Cron, Rq, Ravelli, A, Horne, A, Abinun, M, Aggarwal, A, Akikusa, J, Al Mayouf, S, Apaz, Mt, Avcin, T, Ayaz, Na, Barone, P, Bica, B, Bolt, I, Breda, L, Cimaz, R, Corona, F, Cuttica, R, Davidsone, Z, De Cunto, C, De Inocencio, J, Demirkaya, E, Eisenstein, Em, Enciso, S, Fischbach, M, Frosch, M, Gallizzi, R, Gamir, Ml, Griffin, T, Grom, A, Hashad, S, Hennon, T, Henter, Ji, Horneff, G, Huber, A, Ilowite, N, Ioseliani, M, Kapović, Am, Khubchandani, R, Koné Paut, I, de Oliveira, Skf, Lattanzi, B, Lepore, L, Lipton, Jm, Magni Manzoni, S, Maritsi, D, Mccurdy, D, Miettunen, P, Mulaosmanovic, V, Nielsen, S, Ozen, S, Pal, P, Prahalad, S, Rigante, Donato, Rumba Rozenfelde, I, Russo, R, Magalhães, C, Sewairi, Wm, Artur Silva, C, Stanevicha, V, Sterba, G, Stine, Kc, Susic, G, Sztajnbok, F, Takei, S, Trauzeddel, R, Tsitsami, E, Unsal, E, Uziel, Y, Vougiouka, O, Wallace, Ca, Weaver, L, Weiss J, E, Wouters, C, Wulffraat, N, Zletni, M, Aricò, M, Egeler, Rm, Filipovich, Ah, Gadner, H, Imashuku, S, Janka, G, Ladisch, S, Mcclain, Kl, Webb, D., and Rigante, Donato (ORCID:0000-0001-7032-7779)
- Abstract
OBJECTIVE: To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic arthritis. STUDY DESIGN: The clinical, laboratory, and histopathologic features of 362 patients with MAS and 258 patients with pHLH were collected in a multinational collaborative study. Eighty percent of the population was assessed to develop the score and the remaining 20% constituted the validation sample. Variables that entered the best fitted model of logistic regression were assigned a score, based on their statistical weight. The MAS/HLH (MH) score was made up with the individual scores of selected variables. The cutoff in the MH score that discriminated pHLH from MAS best was calculated by means of receiver operating characteristic curve analysis. Score performance was examined in both developmental and validation samples. RESULTS: Six variables composed the MH score: age at onset, neutrophil count, fibrinogen, splenomegaly, platelet count, and hemoglobin. The MH score ranged from 0 to 123, and its median value was 97 (1st-3rd quartile 75-123) and 12 (1st-3rd quartile 11-34) in pHLH and MAS, respectively. The probability of a diagnosis of pHLH ranged from <1% for a score of <11 to >99% for a score of ≥123. A cutoff value of ≥60 revealed the best performance in discriminating pHLH from MAS. CONCLUSION: The MH score is a powerful tool that may aid practitioners to identify patients who are more likely to have pHLH and, thus, could be prioritized for functional and genetic testing.
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- 2017
77. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
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Coulter, T, Chandra, A, Bacon, C, Babar, J, Curtis, J, Screaton, N, Goodlad, J, Farmer, G, Steele, C, Leahy, T, Doffinger, R, Baxendale, H, Bernatoniene, J, Edgar, J, Longhurst, H, Ehl, S, C Grimbacher B, S, Sediva A Milota, Tfs, Williams, A, Hayman, G, Kucuk, Z, Hague, R, French, P, Brooker, R, Forsyth, P, Herriot, R, Cancrini, C, Palma, P, Ariganello, P, Conlon, N, Feighery, C, Gavin, P, Jones, A, Imai, K, Ibrahim, M, Markelj, G, Abinun, M, Rieux-Laucat, F, Latour, S, I Fischer A Touzot F, P, Casanova, J, Durandy, A, Burns, S, Savic, S, Kumararatne, D, Moshous, D, Kracker, S, Vanhaesebroeck, B, K Picard C, O, Nejentsev, S, and Condliffe AM Cant AJ
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Settore MED/38 - Published
- 2016
78. Anhidrotic ectodermal dysplasia associated with specific antibody deficiency
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Abinun, M., Flood, T., Cant, A. J., Spickett, G., and Appleton, A. L.
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- 1996
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79. Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE syndrome
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Woellner, C., Gertz, M. E., Schaffer, A. A., Lagos, M., Perro, M., Glocker, E. -O, Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitanska-Pliszka, E., Yeganch, M., Moin, M., Espanol, T., Ehl, S., Gennery, A. R., Abinun, M., Breborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sanchez, B., Garty, B-Z, Pignata, C., Cancrini, C., Litzman, J., Sanal, O., Batimann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarstrom, L., Davies, G. E., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Sujoy Khan, Marodi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. M., Grimbacher, B., Woellner, C., Gertz, E. M., Schäffer, A. A., Lagos, M., Perro, M., Glocker, E. O., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolitańska Pliszka, E., Yeganeh, M., Moin, M., Español, T., Ehl, S., Gennery, A. R., Abinun, M., Bręborowicz, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S. E., Plebani, A., Sánchez, B., Garty, B. Z., Pignata, Claudio, Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A. P., Davis, J. N., Hammarström, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Maródi, L., Cant, A. J., Freeman, A. F., Puck, J. M., Holland, S. H., and Grimbacher, B.
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Hyper-IgE syndrome ,STAT3 mutation ,TH17 cell ,Job syndrome ,diagnostic guideline ,HIES ,Immunodeficiencies - Abstract
BACKGROUND: The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells. OBJECTIVE: To determine whether there is a correlation between the genotype and the phenotype of patients with HIES and to establish diagnostic criteria to distinguish between STAT3 mutated and STAT3 wild-type patients. METHODS: We collected clinical data, determined T(H)17 cell numbers, and sequenced STAT3 in 100 patients with a strong clinical suspicion of HIES and serum IgE >1000 IU/mL. We explored diagnostic criteria by using a machine-learning approach to identify which features best predict a STAT3 mutation. RESULTS: In 64 patients, we identified 31 different STAT3 mutations, 18 of which were novel. These included mutations at splice sites and outside the previously implicated DNA-binding and Src homology 2 domains. A combination of 5 clinical features predicted STAT3 mutations with 85% accuracy. T(H)17 cells were profoundly reduced in patients harboring STAT3 mutations, whereas 10 of 13 patients without mutations had low (1000IU/mL plus a weighted score of clinical features >30 based on recurrent pneumonia, newborn rash, pathologic bone fractures, characteristic face, and high palate. Probable: These characteristics plus lack of T(H)17 cells or a family history for definitive HIES. Definitive: These characteristics plus a dominant-negative heterozygous mutation in STAT3.
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- 2010
80. Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis
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Ramesh, V, Bernardi, B, Stafa, A, Garone, Caterina, Franzoni, E, Abinun, M, Mitchell, P, Mitra, D, Friswell, M, Nelson, J, Shalev, Sa, Rice, Gi, Gornall, H, Szynkiewicz, M, Aymard, F, Ganesan, V, Prendiville, J, Livingston, Jh, Crow, Yj, Ramesh V, Bernardi B, Stafa A, Garone C, Franzoni E, Abinun M, Mitchell P, Mitra D, Friswell M, Nelson J, Shalev SA, Rice GI, Gornall H, Szynkiewicz M, Aymard F, Ganesan V, Prendiville J, Livingston JH, and Crow YJ
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Male ,DNA Mutational Analysis ,Infant ,Proteins ,Phosphoproteins ,SAM Domain and HD Domain-Containing Protein 1 ,Exodeoxyribonucleases ,Child, Preschool ,Homeostasis ,Humans ,Point Mutation ,Carotid Stenosis ,Female ,Cerebral Arterial Diseases ,Child ,Monomeric GTP-Binding Proteins - Abstract
AIM: To describe a spectrum of intracerebral large artery disease in Aicardi-Goutières syndrome (AGS) associated with mutations in the AGS5 gene SAMHD1. METHOD: We used clinical and radiological description and molecular analysis. RESULTS: Five individuals (three males, two females) were identified as having biallelic mutations in SAMHD1 and a cerebral arteriopathy in association with peripheral vessel involvement resulting in chilblains and ischaemic ulceration. The cerebral vasculopathy was primarily occlusive in three patients (with terminal carotid occlusion and basal collaterals reminiscent of moyamoya syndrome) and aneurysmal in two. Three of the five patients experienced intracerebral haemorrhage, which was fatal in two individuals. Post-mortem examination of one patient suggested that the arteriopathy was inflammatory in origin. INTERPRETATION: Mutations in SAMHD1 are associated with a cerebral vasculopathy which is likely to have an inflammatory aetiology. A similar disease has not been observed in patients with mutations in AGS1 to AGS4, suggesting a particular role for SAMHD1 in vascular homeostasis. Our report raises important questions about the management of patients with mutations in SAMHD1
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- 2010
81. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
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Coulter, TI, Chandra, A, Bacon, CM, Babar, J, Curtis, J, Screaton, N, Goodlad, JR, Farmer, G, Steele, CL, Leahy, TR, Doffinger, R, Baxendale, H, Bernatoniene, J, Edgar, JD, Longhurst, HJ, Ehl, S, Speckmann, C, Grimbacher, B, Sediva, A, Milota, T, Faust, SN, Williams, AP, Hayman, G, Kucuk, ZY, Hague, R, French, P, Brooker, R, Forsyth, P, Herriot, R, Cancrini, C, Palma, P, Ariganello, P, Conlon, N, Feighery, C, Gavin, PJ, Jones, A, Imai, K, Ibrahim, MA, Markelj, G, Abinun, M, Rieux-Laucat, F, Latour, S, Pellier, I, Fischer, A, Touzot, F, Casanova, JL, Durandy, A, Burns, SO, Savic, S, Kumararatne, DS, Moshous, D, Kracker, S, Vanhaesebroeck, B, Okkenhaug, K, Picard, C, Nejentsev, S, Condliffe, AM, Cant, AJ, Chandra, Anita [0000-0002-9061-879X], Okkenhaug, Klaus [0000-0002-9432-4051], Nezhentsev, Sergey [0000-0002-7528-4461], and Apollo - University of Cambridge Repository
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Adult ,Male ,Adolescent ,bronchiectasis ,Class I Phosphatidylinositol 3-Kinases ,International Cooperation ,Immunology ,PPV, Pneumococcal polysaccharide vaccine ,HSCT, Hematopoietic stem cell transplantation ,Cohort Studies ,Mice ,Young Adult ,APDS, Activated phosphoinositide-3 kinase δ syndrome ,phosphoinositide 3-kinase inhibitor ,Immune Deficiencies, Infection, and Systemic Immune Disorders ,Recurrence ,PI3K, Phosphoinositide 3-kinase ,Surveys and Questionnaires ,BALF, Bronchoalveolar lavage fluid ,Activated phosphoinositide 3-kinase δ syndrome ,Animals ,Humans ,Immunology and Allergy ,Enzyme Inhibitors ,CMV, Cytomegalovirus ,Child ,HSV, Herpes simplex virus ,Respiratory Tract Infections ,CNS, Central nervous system ,Hematopoietic Stem Cell Transplantation ,Immunologic Deficiency Syndromes ,Immunoglobulins, Intravenous ,Infant ,GOF, Gain of function ,Herpesviridae Infections ,Antibiotic Prophylaxis ,Middle Aged ,PIK3CD gene ,Survival Analysis ,Lymphoproliferative Disorders ,Child, Preschool ,Mutation ,CT, Computed tomography ,p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency ,Female ,immunodeficiency ,phosphoinositide 3-kinase δ ,OR, Odds ratio - Abstract
Background: Activated PI3-Kinase Delta Syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ).\ud Objective: To review the clinical, immunological, histopathological and radiological features of APDS in a large genetically-defined international cohort.\ud Methods: Clinical questionnaire, and review of medical notes, radiology histopathology and laboratory investigations of 53 APDS patients.\ud Results: Recurrent sino-pulmonary infections (96%) and non-neoplastic lymphoproliferation (75%) were common, often from childhood. Other significant complications included herpesvirus infections (49%), autoinflammatory disease (34%), and lymphoma (13%). Unexpectedly, neurodevelopmental delay occurred in 19% of the cohort, suggesting a role for PI3Kδ in the central nervous system (CNS); consistent with this PI3Kδ is broadly expressed in the developing murine CNS. Thoracic imaging revealed high rates of mosaic attenuation (90%) and bronchiectasis (60% in cohort); the incidence of bronchiectasis was greater than in common variable immunodeficiency (CVID). Elevated IgM (78%), IgG deficiency (43%) and CD4 lymphopenia (84%) were significant immunological features. No immunological marker reliably predicted clinical severity, which ranged from asymptomatic to death in early childhood. The majority of patients received immunoglobulin replacement and antibiotic prophylaxis, and five patients underwent haematopoietic stem cell transplant (HSCT). Five patients died from complications of APDS.\ud Conclusion: APDS is a combined immunodeficiency with multiple clinical manifestations, many with incomplete penetrance and others with variable expressivity. The severity of complications in some patients supports consideration of HSCT for severe childhood disease. Clinical trials of selective PI3Kδ inhibitors offer new prospects for APDS treatment.
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- 2017
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82. Diagnostic criteria for the hyper IgE recurrent infection syndrome/Job’s syndrome/STAT3 deficiency
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Woellner C., Gertz E.m., Schaeffer A.A., Lagos M., Perro M., Pietrogrande M.C., Cossu F., Franco J.L., Matamoros N., Pietrucha B., Heropolianska Pliszka E., Yeganeh M., Espanol T., Ehl S., Gennery A.r., Abinun M., Breborowics A., Niehues T., Kilic S.S., Junker A., Turvey S., Plebani A., Sanchez B., Garty B.Z., Cancrini C., Litzman J., Sanal O., Baumann U., Bacchetta R., Hsu A., Hammarstrom L., Davies E.G., Eren E., Arkwright P.D., Moilanen J.S., Viemann D., Khan S., Marodi L., Cant A.M., Puck J.M., Holland S.M., Grimbacher B., PIGNATA, CLAUDIO, Woellner, C., Gertz, E. m., Schaeffer, A. A., Lagos, M., Perro, M., Pietrogrande, M. C., Cossu, F., Franco, J. L., Matamoros, N., Pietrucha, B., Heropolianska Pliszka, E., Yeganeh, M., Espanol, T., Ehl, S., Gennery, A. r., Abinun, M., Breborowics, A., Niehues, T., Kilic, S. S., Junker, A., Turvey, S., Plebani, A., Sanchez, B., Garty, B. Z., Pignata, Claudio, Cancrini, C., Litzman, J., Sanal, O., Baumann, U., Bacchetta, R., Hsu, A., Hammarstrom, L., Davies, E. G., Eren, E., Arkwright, P. D., Moilanen, J. S., Viemann, D., Khan, S., Marodi, L., Cant, A. M., Puck, J. M., Holland, S. M., and Grimbacher, B.
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- 2008
83. Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC)
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Zheng, J., Veerdonk, F.L. van de, Crossland, K.L., Smeekens, S.P., Chan, C.M., Shehri, T. Al, Abinun, M., Gennery, A.R., Mann, J., Lendrem, D.W., Netea, M.G., Rowan, A.D., Lilic, D., Zheng, J., Veerdonk, F.L. van de, Crossland, K.L., Smeekens, S.P., Chan, C.M., Shehri, T. Al, Abinun, M., Gennery, A.R., Mann, J., Lendrem, D.W., Netea, M.G., Rowan, A.D., and Lilic, D.
- Abstract
Item does not contain fulltext, Signal transducer and activator of transcription 3 (STAT3) triggered production of Th-17 cytokines mediates protective immunity against fungi. Mutations affecting the STAT3/interleukin 17 (IL-17) pathway cause selective susceptibility to fungal (Candida) infections, a hallmark of chronic mucocutaneous candidiasis (CMC). In patients with autosomal dominant CMC, we and others previously reported defective Th17 responses and underlying gain-of-function (GOF) STAT1 mutations, but how this affects STAT3 function leading to decreased IL-17 is unclear. We also assessed how GOF-STAT1 mutations affect STAT3 activation, DNA binding, gene expression, cytokine production, and epigenetic modifications. We excluded impaired STAT3 phosphorylation, nuclear translocation, and sequestration of STAT3 into STAT1/STAT3 heterodimers and confirm significantly reduced transcription of STAT3-inducible genes (RORC/IL-17/IL-22/IL-10/c-Fos/SOCS3/c-Myc) as likely underlying mechanism. STAT binding to the high affinity sis-inducible element was intact but binding to an endogenous STAT3 DNA target was impaired. Reduced STAT3-dependent gene transcription was reversed by inhibiting STAT1 activation with fludarabine or enhancing histone, but not STAT1 or STAT3 acetylation with histone deacetylase (HDAC) inhibitors trichostatin A or ITF2357. Silencing HDAC1, HDAC2, and HDAC3 indicated a role for HDAC1 and 2. Reduced STAT3-dependent gene transcription underlies low Th-17 responses in GOF-STAT1 CMC, which can be reversed by inhibiting acetylation, offering novel targets for future therapies.
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- 2015
84. Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?
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Fernandes, Jf, Rocha, V, Labopin, M, Neven, B, Moshous, D, Gennery, Ar, Friedrich, W, Porta, F, Diaz de Heredia, C, Wall, D, Bertrand, Y, Veys, P, Slatter, M, Schulz, A, Chan, Kw, Grimley, M, Ayas, M, Gungor, T, Ebell, W, Bonfim, C, Kalwak, K, Taupin, P, Blanche, S, Gaspar, Hb, Landais, P, Fischer, A, Gluckman, E, Cavazzana Calvo, M, Eurocord, Inborn Errors Working Party of European Group for Blood, Marrow Transplantation: Ahmed, A, Auiti, A, Biffi, A, Cant, A, Fasth, A, Gennery, A, Hassan, A, Lankester, A, O'Mera, A, Plabani, A, Rovelli, A, Salmon, A, Scarselli, A, Thrasher, A, Van Royen, A, Villa, A, Wawer, A, Wahadneh, A, Worth, A, Belohradsky, B, Wolska, B, Gaspar, B, Bonfirm, C, Booth, C, Klein, C, Messina, C, Peters, C, Steward, C, Lindemans, C, Schuetz, C, de Heredia Rubio CD, Bensoussan, D, Gleadow, D, Lilic, D, Gambineri, Eleonora, Smith, E, Aerts, F, Caracseghi, F, Roberts, G, Davies, G, Al Mousa, H, Jossanc, H, Ozsahim, H, Hirsch, I, Meyts, I, Tezcan, I, Mueller, I, Andresc, I, Boelens, J, Fernandes, J, Folloni, J, Keuhl, J, Reichenbach, J, Stary, J, Wachowiak, J, Xu Bayford, J, Cunha, Jm, Ehlert, J, Rao, K, Sykora, K, Andais, L, Brown, L, Dal Cortivo, L, Griffith, L, Notarangelo, L, Abinun, M, Albert, M, Bierings, M, Bouchet, M, Cavazzana, M, Hirschfield, M, Cowan, M, Hoenig, M, Loubser, M, Roncarolo, M, Sauer, M, Schneider, M, Verstegen, M, Schroeder, M, Essink, M, Yesilipek, M, Entz Werle, N, Mahlaoui, N, Schlautmann, N, Taylor, N, Vanroyen, N, Walffraat, N, Sanal, O, Amrolia, P, Bordigoni, P, De Coppi, P, Frange, P, Orchard, P, Sedlacek, P, Shaw, P, Stephensky, P, Bacchetta, R, Bredius, R, Formankova, R, Gale, R, Seger, R, Wynn, R, Corbacioglu, S, Ehl, S, Hacein Bey, S, Hambleton, S, Mohsen, S, Mueller, S, Pai, Sy, Espanol, T, Flood, T, Guengoer, T, Bordon, V, Ormoor, V, Pashano, V, Courteille, V, Czogala, W, Qasim, W, Camci, Y, and Nademi, Z.
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Male ,medicine.medical_specialty ,Transplantation Conditioning ,medicine.medical_treatment ,Immunology ,Graft vs Host Disease ,Kaplan-Meier Estimate ,Cord Blood Stem Cell Transplantation ,Hematopoietic stem cell transplantation ,Biochemistry ,Gastroenterology ,SCID HSCT ,Internal medicine ,medicine ,Humans ,Proportional Hazards Models ,Retrospective Studies ,Preparative Regimen ,Severe combined immunodeficiency ,business.industry ,Umbilical Cord Blood Transplantation ,Incidence ,Hematopoietic Stem Cell Transplantation ,Infant, Newborn ,Infant ,Cell Biology ,Hematology ,medicine.disease ,Surgery ,Transplantation ,Treatment Outcome ,Child, Preschool ,Histocompatibility ,Cord blood ,Female ,Severe Combined Immunodeficiency ,business - Abstract
Pediatric patients with SCID constitute medical emergencies. In the absence of an HLA-identical hematopoietic stem cell (HSC) donor, mismatched related-donor transplantation (MMRDT) or unrelated-donor umbilical cord blood transplantation (UCBT) are valuable treatment options. To help transplantation centers choose the best treatment option, we retrospectively compared outcomes after 175 MMRDTs and 74 UCBTs in patients with SCID or Omenn syndrome. Median follow-up time was 83 months and 58 months for UCBT and MMRDT, respectively. Most UCB recipients received a myeloablative conditioning regimen; most MMRDT recipients did not. UCB recipients presented a higher frequency of complete donor chimerism (P = .04) and faster total lymphocyte count recovery (P = .04) without any statistically significance with the preparative regimen they received. The MMRDT and UCBT groups did not differ in terms of T-cell engraftment, CD4+ and CD3+ cell recoveries, while Ig replacement therapy was discontinued sooner after UCBT (adjusted P = .02). There was a trend toward a greater incidence of grades II-IV acute GVHD (P = .06) and more chronic GVHD (P = .03) after UCBT. The estimated 5-year overall survival rates were 62% ± 4% after MMRDT and 57% ± 6% after UCBT. For children with SCID and no HLA-identical sibling donor, both UCBT and MMRDT represent available HSC sources for transplantation with quite similar outcomes.
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- 2012
85. Secondary autoimmune diseases occurring after HSCT for an autoimmune disease: a retrospective study of the EBMT Autoimmune Disease Working Party
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Daikeler, T., Labopin, M., Gioia, M. di, Abinun, M., Alexander, T., Miniati, I., Gualandi, F., Fassas, A., Martin, T., Schwarze, C.P., Wulffraat, N., Buch, M., Sampol, A., Carreras, E., Dubois, B., Gruhn, B., Gungor, T., Pohlreich, D., Schuerwegh, A., Snarski, E., Snowden, J., Veys, P., Fasth, A., Lenhoff, S., Messina, C., Voswinkel, J., Badoglio, M., Henes, J., Launay, D., Tyndall, A., Gluckman, E., Farge, D., EBMT Autoimmune Disease Working, Department of Rheumatology, University Hospital Basel [Basel], Service d'hématologie clinique et de thérapie cellulaire [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Haematology Department, Careggi University Hospital, Newcastle General Hospital, Department of Rheumatology & Clinical Immunology, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Department of Biomedicine, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Department of Haematology II, Ospedale San Martino, Neurology & Haematology, George Papanicolau Hospital, Immunologie et chimie thérapeutiques (ICT), Cancéropôle du Grand Est-Centre National de la Recherche Scientifique (CNRS), Paediatric Haematology & Endocrinology, University Children's Hospital, University Medical Center, VU University Medical Center [Amsterdam], Section of Musculoskeletal Disease, University of Leeds, Hospital Universitari Son Espases, Department of Hematology, Hospital Clinic Barcelona, Department of Neurology, University Hospitals Leuven [Leuven], Department of Pediatrics, Friedrich-Schiller-Universität = Friedrich Schiller University Jena [Jena, Germany], Division of Immunology/Hematology/BMT, Charles University Hospital, Leiden University Medical Center (LUMC), Department of Hematology & Oncology, Medical University of Warsaw - Poland, Department of Haematology & Department of Oncology, NHS & University of Sheffield, Great Ormond Street Hospital for Children [London] (GOSH), University of Gothenburg (GU), University Hospital Lund, Dipartimento di Pediatria, Cinica di Oncoematologia Pediatrica, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Hematology & Rheumatology, University Hospital Tübingen, Department of Internal Medicine, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Clinical Research Unit, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Immunologie, dermatologie, oncologie, Oncodermatologie, immunologie et cellules souches cutanées (IDO (U976 / UMR_S 976)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), EULAR Grant & Freiwillige Akademische Gesellschaft Basel, Università degli Studi di Firenze = University of Florence (UniFI), Universiteit Leiden-Universiteit Leiden, University of Sheffield [Sheffield], and Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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Male ,stem-cell transplantation bone-marrow-transplantation hemolytic-anemia blood ,medicine.medical_treatment ,Hematopoietic stem cell transplantation ,Biochemistry ,Autoimmune thrombocytopenia ,Antibodies, Monoclonal, Murine-Derived ,0302 clinical medicine ,Prednisone ,immune system diseases ,Risk Factors ,hemic and lymphatic diseases ,Child ,Hematopoietic Stem Cell Transplantation ,[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology ,Hematology ,Middle Aged ,3. Good health ,Europe ,surgical procedures, operative ,Treatment Outcome ,030220 oncology & carcinogenesis ,Child, Preschool ,Rituximab ,Female ,Autoimmune hemolytic anemia ,Immunosuppressive Agents ,medicine.drug ,Adult ,medicine.medical_specialty ,Adolescent ,Immunology ,Autoimmune Diseases ,03 medical and health sciences ,Young Adult ,Antiphospholipid syndrome ,Internal medicine ,medicine ,Humans ,Immunologic Factors ,Cyclophosphamide ,Glucocorticoids ,Retrospective Studies ,Autoimmune disease ,Lupus erythematosus ,business.industry ,Infant ,Cell Biology ,[SDV.IMM.IMM]Life Sciences [q-bio]/Immunology/Immunotherapy ,medicine.disease ,Multivariate Analysis ,business ,030215 immunology - Abstract
To specify the incidence and risk factors for secondary autoimmune diseases (ADs) after HSCT for a primary AD, we retrospectively analyzed AD patients treated by HSCT reported to EBMT from 1995 to 2009 with at least 1 secondary AD (cases) and those without (controls). After autologous HSCT, 29 of 347 patients developed at least 1 secondary AD within 21.9 (0.6-49) months and after allogeneic HSCT, 3 of 16 patients. The observed secondary ADs included: autoimmune hemolytic anemia (n = 3), acquired hemophilia (n = 3), autoimmune thrombocytopenia (n = 3), antiphospholipid syndrome (n = 2), thyroiditis (n = 12), blocking thyroid-stimulating hormone receptor antibody (n = 1), Graves disease (n = 2), myasthenia gravis (n = 1), rheumatoid arthritis (n = 2), sarcoidosis (n = 2), vasculitis (n = 1), psoriasis (n = 1), and psoriatic arthritis (n = 1). After autologous HSCT for primary AD, the cumulative incidence of secondary AD was 9.8% ± 2% at 5 years. Lupus erythematosus as primary AD, and antithymocyte globulin use plus CD34+ graft selection were important risk factors for secondary AD by multivariate analysis. With a median follow-up of 6.2 (0.54-11) years after autologous HSCT, 26 of 29 patients with secondary AD were alive, 2 died during their secondary AD (antiphospholipid syndrome, hemophilia), and 1 death was HSCT-related. This European multicenter study underlines the need for careful management and follow-up for secondary AD after HSCT.
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- 2011
86. Performance of current guidelines for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis
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Davì, S, Minoia, F, Pistorio, A, Horne, A, Consolaro, A, Rosina, S, Bovis, F, Cimaz, R, Gamir, Ml, Ilowite, N, Kone Paut, I, Feitosa De Oliveira, Sk, Mccurdy, D, Silva, Ca, Sztajnbok, F, Tsitsami, E, Unsal, E, Weiss, Je, Wulffraat, N, Abinun, M, Aggarwal, A, Apaz, Mt, Astigarraga, I, Corona, F, Cuttica, R, D'Angelo, G, Eisenstein, Em, Hashad, S, Lepore, L, Mulaosmanovic, V, Nielsen, S, Prahalad, S, Rigante, Donato, Stanevicha, V, Sterba, G, Susic, G, Takei, S, Trauzeddel, R, Zletni, M, Ruperto, N, Martini, A, Cron, Rq, Ravelli, A., Rigante, Donato (ORCID:0000-0001-7032-7779), Davì, S, Minoia, F, Pistorio, A, Horne, A, Consolaro, A, Rosina, S, Bovis, F, Cimaz, R, Gamir, Ml, Ilowite, N, Kone Paut, I, Feitosa De Oliveira, Sk, Mccurdy, D, Silva, Ca, Sztajnbok, F, Tsitsami, E, Unsal, E, Weiss, Je, Wulffraat, N, Abinun, M, Aggarwal, A, Apaz, Mt, Astigarraga, I, Corona, F, Cuttica, R, D'Angelo, G, Eisenstein, Em, Hashad, S, Lepore, L, Mulaosmanovic, V, Nielsen, S, Prahalad, S, Rigante, Donato, Stanevicha, V, Sterba, G, Susic, G, Takei, S, Trauzeddel, R, Zletni, M, Ruperto, N, Martini, A, Cron, Rq, Ravelli, A., and Rigante, Donato (ORCID:0000-0001-7032-7779)
- Abstract
OBJECTIVE: To compare the capacity of the 2004 diagnostic guidelines for hemophagocytic lymphohistiocytosis (HLH-2004) with the capacity of the preliminary diagnostic guidelines for systemic juvenile idiopathic arthritis (JIA)-associated macrophage activation syndrome (MAS) to discriminate MAS complicating systemic JIA from 2 potentially confusable conditions, represented by active systemic JIA without MAS and systemic infection. METHODS: International pediatric rheumatologists and hemato-oncologists were asked to retrospectively collect clinical information from patients with systemic JIA-associated MAS and confusable conditions. The ability of the guidelines to differentiate MAS from the control diseases was evaluated by calculating the sensitivity and specificity of each set of guidelines and the kappa statistics for concordance with the physician's diagnosis. Owing to the fact that not all patients were assessed for hemophagocytosis on bone marrow aspirates and given the lack of data on natural killer cell activity and soluble CD25 levels, the HLH-2004 guidelines were adapted to enable the diagnosis of MAS when 3 of 5 of the remaining items (3/5-adapted) or 4 of 5 of the remaining items (4/5-adapted) were present. RESULTS: The study sample included 362 patients with systemic JIA and MAS, 404 patients with active systemic JIA without MAS, and 345 patients with systemic infection. The best capacity to differentiate MAS from systemic JIA without MAS was found when the preliminary MAS guidelines were applied. The 3/5-adapted HLH-2004 guidelines performed better than the 4/5-adapted guidelines in distinguishing MAS from active systemic JIA without MAS. The 3/5-adapted HLH-2004 guidelines and the preliminary MAS guidelines with the addition of ferritin levels ≥500 ng/ml discriminated best between MAS and systemic infections. CONCLUSION: The preliminary MAS guidelines showed the strongest ability to identify MAS in systemic JIA. The addition of hyperferritinemia enhanc
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- 2014
87. Osteoclast-poor human osteopetrosis due to mutations in RANKL
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Sobacchi, C, Frattini, A, Guerrini, M. M., Abinun, M, Pangrazio, A, Susani, L, Bredius, R, Mancini, G, Cant, A, Bishop, N, Grabowski, P, DEL FATTORE, A, Messina, C, Errigo, G, Coxon, F. P., Scott, D. I., Teti, ANNA MARIA, Rogers, M. J., Vezzoni, P, Villa, A, and Helfrich, M. H.
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- 2007
88. Graft-vs.-host Disease and Post-transplant Lymphoproliferative Disease
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Abinun, M., primary and Cavet, J., additional
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89. Gastrointestinal, Respiratory and Renal/Urogenital Complications of HSCT
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Abinun, M., primary and Cavet, J., additional
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90. Functional and prognostic relevance of the -173 polymorphism of the macrophage migration inhibitory factor gene in systemic-onset juvenile idiopathic arthritis
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De Benedetti, F., Meazza, C., Vivarelli, M., Rossi, F., Pistorio, A., Lamb, R., Lunt, M., Thomson, W., Abinun, M., Becker, M., Bell, A., Craft, A., Crawley, E., David, J., Foster, H., Gardener-Medwin, J., Griffin, J., Hall, A., Hall, M., Herrick, A., Hollingworth, P., Holt, L., Jones, S., Pountain, G., Ryder, C., Southwood, T., Stewart, I., Venning, H., Wedderburn, L., Woo, P., Wyatt, S., Ravelli, A., Donn, R., and Martini, A.
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Questionnaires ,Adolescent ,drug therapy/genetics/metabolism/physiopathology ,Health Status ,genetics/metabolism ,Enzyme-Linked Immunosorbent Assay ,Severity of Illness Index ,Juvenile Rheumatoid ,Drug Therapy ,Synovial Fluid ,Humans ,Point Mutation ,Genetic Predisposition to Disease ,Polymorphism ,Child ,Preschool ,Glucocorticoids ,Macrophage Migration-Inhibitory Factors ,Retrospective Studies ,Adolescent, Antirheumatic Agents ,therapeutic use, Arthritis ,drug therapy/genetics/metabolism/physiopathology, Child, Child ,Preschool, Drug Therapy ,Combination, Enzyme-Linked Immunosorbent Assay, Genetic Predisposition to Disease, Glucocorticoids ,therapeutic use, Health Status, Humans, Infant, Macrophage Migration-Inhibitory Factors ,genetics/metabolism, Point Mutation, Polymorphism ,Single Nucleotide, Prognosis, Questionnaires, Retrospective Studies, Severity of Illness Index, Synovial Fluid ,metabolism, Treatment Outcome ,Arthritis ,Infant ,Single Nucleotide ,Prognosis ,Treatment Outcome ,Antirheumatic Agents ,therapeutic use ,Combination ,metabolism - Published
- 2003
91. A UK national audit of hereditary and acquired angioedema
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Jolles, S, primary, Williams, P, additional, Carne, E, additional, Mian, H, additional, Huissoon, A, additional, Wong, G, additional, Hackett, S, additional, Lortan, J, additional, Platts, V, additional, Longhurst, H, additional, Grigoriadou, S, additional, Dempster, J, additional, Deacock, S, additional, Khan, S, additional, Darroch, J, additional, Simon, C, additional, Thomas, M, additional, Pavaladurai, V, additional, Alachkar, H, additional, Herwadkar, A, additional, Abinun, M, additional, Arkwright, P, additional, Tarzi, M, additional, Helbert, M, additional, Bangs, C, additional, Pastacaldi, C, additional, Phillips, C, additional, Bennett, H, additional, and El-Shanawany, T, additional
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- 2013
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92. Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
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Nademi, Z, primary, Slatter, M, additional, Gambineri, E, additional, Mannurita, S C, additional, Barge, D, additional, Hodges, S, additional, Bunn, S, additional, Thomas, J, additional, Haugk, B, additional, Hambleton, S, additional, Flood, T, additional, Cant, A, additional, Abinun, M, additional, and Gennery, A, additional
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- 2013
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93. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
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Villa, A, Sobacchi, C, Notarangelo, Luigi Daniele, Bozzi, F, Abinun, M, Abrahamsen, Tg, Arkwright, Pd, Baniyash, M, Brooks, Eg, Conley, Me, Cortes, P, and Schwarz, K.
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- 2001
94. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome
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Cliffe, S.T., Bloch, D.B., Suryani, S., Kamsteeg, E.J., Avery, D.T., Palendira, U., Church, J.A., Wainstein, B.K., Trizzino, A., Lefranc, G., Akatcherian, C., Megarbane, A., Gilissen, C.F.H.A., Moshous, D., Reichenbach, J., Misbah, S., Salzer, U., Abinun, M., Ong, P.Y., Stepensky, P., Ruga, E., Ziegler, J.B., Wong, M., Tangye, S.G., Lindeman, R., Buckley, M.F., Roscioli, T., Cliffe, S.T., Bloch, D.B., Suryani, S., Kamsteeg, E.J., Avery, D.T., Palendira, U., Church, J.A., Wainstein, B.K., Trizzino, A., Lefranc, G., Akatcherian, C., Megarbane, A., Gilissen, C.F.H.A., Moshous, D., Reichenbach, J., Misbah, S., Salzer, U., Abinun, M., Ong, P.Y., Stepensky, P., Ruga, E., Ziegler, J.B., Wong, M., Tangye, S.G., Lindeman, R., Buckley, M.F., and Roscioli, T.
- Abstract
Item does not contain fulltext, BACKGROUND: Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic veno-occlusive disease. OBJECTIVES: We sought to further characterize the clinical features, B-lineage cellular immunologic findings, and molecular pathogenesis of this disorder in 9 patients with new diagnoses, including 4 novel mutations from families of Italian, Hispanic, and Arabic ethnic origin. METHODS: Methods used include clinical review; Sanger DNA sequencing of the SP110 gene; determination of transfected mutant protein function by using immunofluorescent studies in Hep-2 cells; quantitation of B-cell subsets by means of flow cytometry; assessments of B-cell function after stimulation with CD40 ligand, IL-21, or both; and differential gene expression array studies of EBV-transformed B cells. RESULTS: We confirm the major diagnostic criteria and the clinical utility of SP110 mutation testing for the diagnosis of VODI. Analysis of 4 new alleles confirms that VODI is caused by reduced functional SP110 protein levels. Detailed B-cell immunophenotyping demonstrated that Sp110 deficiency compromises the ability of human B cells to respond to T cell-dependent stimuli and differentiate into immunoglobulin-secreting cells in vitro. Expression microarray studies have identified pathways involved in B-lymphocyte differentiation and macrophage function. CONCLUSION: These studies show that a range of mutations in SP110 that cause decreased SP110 protein levels and impaired late B-cell differentiation cause VODI and that the condition is not restricted to the Lebanese population.
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- 2012
95. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome
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Cliffe, S, Bloch, D, Suryani, S, Kamsteeg, E, Avery, D, Palendira, U, Church, J, Wainstein, B, Trizzino, A, Lefranc, G, Akatcherian, C, Megarbane, A, Gilissen, C, Moshous, D, Reichenbach, J, Misbah, S, Salzer, U, Abinun, M, Ong, P, Stepensky, P, Ruga, E, Ziegler, JB, Wong, M, Tangye, SG, Lindeman, R, Buckley, M, Roscioli, T, Cliffe, S, Bloch, D, Suryani, S, Kamsteeg, E, Avery, D, Palendira, U, Church, J, Wainstein, B, Trizzino, A, Lefranc, G, Akatcherian, C, Megarbane, A, Gilissen, C, Moshous, D, Reichenbach, J, Misbah, S, Salzer, U, Abinun, M, Ong, P, Stepensky, P, Ruga, E, Ziegler, JB, Wong, M, Tangye, SG, Lindeman, R, Buckley, M, and Roscioli, T
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- 2012
96. New autoimmune diseases after cord blood transplantation: a retrospective study of EUROCORD and the Autoimmune Disease Working Party of the European Group for Blood and Marrow Transplantation
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Daikeler, T, Labopin, M, Ruggeri, A, Crotta, A, Abinun, M, Hussein, Aa, Carlson, K, Cornillon, J, Diez Martin, Jl, Gandemer, V, Faraci, M, Lindemans, C, O'Meara, A, Mialou, V, Renard, M, Sedlacek, P, Sirvent, A, Socie, G, Sora', Federica, Varotto, S, Sanz, J, Voswinkel, J, Vora, A, Yesilipek, Ma, Herr, A, Gluckman, E, Farge, D, Rocha, V., Sora', Federica (ORCID:0000-0002-9607-5298), Daikeler, T, Labopin, M, Ruggeri, A, Crotta, A, Abinun, M, Hussein, Aa, Carlson, K, Cornillon, J, Diez Martin, Jl, Gandemer, V, Faraci, M, Lindemans, C, O'Meara, A, Mialou, V, Renard, M, Sedlacek, P, Sirvent, A, Socie, G, Sora', Federica, Varotto, S, Sanz, J, Voswinkel, J, Vora, A, Yesilipek, Ma, Herr, A, Gluckman, E, Farge, D, Rocha, V., and Sora', Federica (ORCID:0000-0002-9607-5298)
- Abstract
To describe the incidence, risk factors, and treatment of autoimmune diseases (ADs) occurring after cord blood transplantation (CBT), we analyzed both CBT recipients reported to EUROCORD who had developed at least 1 new AD and those who had not. Fifty-two of 726 reported patients developed at least 1 AD within 212 days (range, 27-4267) after CBT. Cumulative incidence of ADs after CBT was 5.0% ± 1% at 1 year and 6.6% ± 1% at 5 years. Patients developing ADs were younger and had more nonmalignant diseases (P < .001). ADs target hematopoietic (autoimmune hemolytic anemia, n = 20; Evans syndrome, n = 9; autoimmune thrombocytopenia, n = 11; and immune neutropenia, n = 1) and other tissues (thyroiditis, n = 3; psoriasis, n = 2; Graves disease, n = 1; membranous glomerulonephritis, n = 2; rheumatoid arthritis, n = 1; ulcerative colitis, n = 1; and systemic lupus erythematosus, n = 1). Four patients developed 2 ADs (3 cases of immune thrombocytopenia followed by autoimmune hemolytic anemia and 1 Evans syndrome with rheumatoid arthritis). By multivariate analysis, the main risk factor for developing an AD was nonmalignant disease as an indication for CBT (P = .0001). Hematologic ADs were most often treated with steroids, rituximab, and cyclosporine. With a median follow-up of 26 months (range, 2-91), 6 of 52 patients died as a consequence of ADs. We conclude that CBT may be followed by potentially life-threatening, mainly hematologic ADs.
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- 2012
97. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
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Gennery, A.R., Slatter, M.A., Rice, J., Hoefsloot, L.H., Barge, D., McLean-Tooke, A., Montgomery, T., Goodship, J.A., Burt, A.D., Flood, T.J., Abinun, M., Cant, A.J., Johnson, D., Gennery, A.R., Slatter, M.A., Rice, J., Hoefsloot, L.H., Barge, D., McLean-Tooke, A., Montgomery, T., Goodship, J.A., Burt, A.D., Flood, T.J., Abinun, M., Cant, A.J., and Johnson, D.
- Abstract
Contains fulltext : 70805.pdf (publisher's version ) (Closed access), More than 11 genetic causes of severe combined immunodeficiency (SCID) have been identified, affecting development and/or function of T lymphocytes, and sometimes B lymphocytes and natural killer (NK) cells. Deletion of 22q11.2 is associated with immunodeficiency, although less than 1% of cases are associated with T-B + NK + SCID phenotype. Severe immunodeficiency with CHARGE syndrome has been noted only rarely Omenn syndrome is a rare autosomal recessive form of SCID with erythroderma, hepatosplenomegaly, lymphadenopathy and alopecia. Hypomorphic recombination activating genes 1 and 2 mutations were first described in patients with Omenn syndrome. More recently, defects in Artemis, RMRP, IL7Ralpha and common gamma chain genes have been described. We describe four patients with mutations in CHD7, who had clinical features of CHARGE syndrome and who had T-B + NK + SCID (two patients) or clinical features consistent with Omenn syndrome (two patients). Immunodeficiency in patients with DiGeorge syndrome is well recognized--CHARGE syndrome should now be added to the causes of T-B + NK + SCID, and mutations in the CHD7 gene may be associated with Omenn-like syndrome.
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- 2008
98. Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia
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Rensing-Ehl, A., primary, Janda, A., additional, Lorenz, M. R., additional, Gladstone, B. P., additional, Fuchs, I., additional, Abinun, M., additional, Albert, M., additional, Butler, K., additional, Cant, A., additional, Cseh, A.-M., additional, Ebinger, M., additional, Goldacker, S., additional, Hambleton, S., additional, Hebart, H., additional, Houet, L., additional, Kentouche, K., additional, Kuhnle, I., additional, Lehmberg, K., additional, Mejstrikova, E., additional, Niemeyer, C., additional, Minkov, M., additional, Neth, O., additional, Duckers, G., additional, Owens, S., additional, Rosler, J., additional, Schilling, F. H., additional, Schuster, V., additional, Seidel, M. G., additional, Smisek, P., additional, Sukova, M., additional, Svec, P., additional, Wiesel, T., additional, Gathmann, B., additional, Schwarz, K., additional, Vach, W., additional, Ehl, S., additional, and Speckmann, C., additional
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- 2013
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99. Treosulfan, Fludarabine and Alemtuzumab Conditioning for Hematopoietic Stem Cell Transplantation in Children with Primary Immunodeficiency: UK Experience
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Slatter, M., primary, Rao, K., additional, Chiesa, R., additional, Amrolia, P., additional, Nademi, Z., additional, Flood, T., additional, Abinun, M., additional, Cant, A., additional, Hambleton, S., additional, Goulden, N., additional, Davies, G., additional, Qasim, W., additional, Gaspar, H.B., additional, Gennery, A., additional, and Veys, P., additional
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- 2012
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100. Immune Reconstitution and Clinical Outcome After HSCT Infusion for Severe Combined Immunodeficiency in Newcastle
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Moreira, D., primary, Slatter, M., additional, Nademi, Z., additional, Brigham, K., additional, Barge, D., additional, Jackson, A., additional, Flood, T., additional, Cant, A., additional, Abinun, M., additional, Hambleton, S., additional, and Gennery, A., additional
- Published
- 2012
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