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1. Autologous haematopoietic stem cell transplantation and other cellular therapy in multiple sclerosis and immune-mediated neurological diseases

Author

Sharrack, B., Saccardi, R., Alexander, T., Badoglio, M., Burman, J., Farge, D., Greco, R., Jessop, H., Kazmi, M., Kirgizov, K., Labopin, M., Mancardi, G., Martin, R., Moore, J., Muraro, P.A., Rovira Tarrats, Montserrat, Sormani, M.P., Snowden, J.A., Snowden, J., McGrath, E., Bambi, F., Sanchez-Guijo, F., Worel, N., Badolglio, M., Abinun, M., Arnold, R., Brierley, C., Castilla-Llorente, C., Cooper, N., Daikeler, T., del Papa, N., Finke, J., Hagglund, H., Henes, J., Hiepe, F., Kiely, D., Marjanovic, Z., Martin, T., Ma, D., Miller, P., Muraro, P., Oliveira, M.C., Polushin, A., Onida, F., Simoes, B., Puyade, M., Resnick, I., Rovira, Montserrat, Saif, M., Sakellari, I., Snarski, E., Scherer, H.U., Sossa, C., de Vries-Bouwstra, J., Wulffraat, N., Zaccara, E., Universitat Autònoma de Barcelona, University of Zurich, and Snowden, John A

Subjects
Feature, medicine.medical_specialty, Multiple Sclerosis, Neurologi, Bone marrow transplantation, 2747 Transplantation, medicine.medical_treatment, Immunology, 2720 Hematology, Chronic inflammatory demyelinating polyneuropathy, 610 Medicine & health, Disease, Hematopoietic stem cell transplantation, Transplantation, Autologous, Accreditation, Autoimmune Diseases, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, European Society for Blood and Marrow Transplantation (EBMT) Autoimmune Diseases Working Party (ADWP) and the Joint Accreditation Committee of the International Society for Cellular Therapy (ISCT) and EBMT (JACIE), Intensive care medicine, Peripheral neuropathies, Transplantation, Hematology, Neuromyelitis optica, business.industry, Multiple sclerosis, Hematopoietic Stem Cell Transplantation, 1103 Clinical Sciences, medicine.disease, 10040 Clinic for Neurology, Clinical trial, Europe, surgical procedures, operative, Neurology, business, 030217 neurology & neurosurgery, 030215 immunology
Abstract

These updated EBMT guidelines review the clinical evidence, registry activity and mechanisms of action of haematopoietic stem cell transplantation (HSCT) in multiple sclerosis (MS) and other immune-mediated neurological diseases and provide recommendations for patient selection, transplant technique, follow-up and future development. The major focus is on autologous HSCT (aHSCT), used in MS for over two decades and currently the fastest growing indication for this treatment in Europe, with increasing evidence to support its use in highly active relapsing remitting MS failing to respond to disease modifying therapies. aHSCT may have a potential role in the treatment of the progressive forms of MS with a significant inflammatory component and other immune-mediated neurological diseases, including chronic inflammatory demyelinating polyneuropathy, neuromyelitis optica, myasthenia gravis and stiff person syndrome. Allogeneic HSCT should only be considered where potential risks are justified. Compared with other immunomodulatory treatments, HSCT is associated with greater short-term risks and requires close interspeciality collaboration between transplant physicians and neurologists with a special interest in these neurological conditions before, during and after treatment in accredited HSCT centres. Other experimental cell therapies are developmental for these diseases and patients should only be treated on clinical trials.

Published
2020

2. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

Author

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

3. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Author

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

Subjects
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.

Published
2017
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4. Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?

Author

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.

Subjects
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.

Published
2012

5. Secondary autoimmune diseases occurring after HSCT for an autoimmune disease: a retrospective study of the EBMT Autoimmune Disease Working Party

Author

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)

Subjects
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.

Published
2011

6. C1 inhibitor deficiency: consensus document.

Author

Gompels, M. M., Lock, R. J., Abinun, M., Bethune, C. A., Davies, G., Grattan, C., Fay, A. C., Longhurst, H. J., Morrison, L., Price, A., Price, M., and Watters, D.

Subjects
IMMUNOLOGY, GASTROINTESTINAL system, EDEMA, ANDROGENS, SEX hormones, KALLIKREIN, BRADYKININ
Abstract

We present a consensus document on the diagnosis and management of C1 inhibitor deficiency, a syndrome characterized clinically by recurrent episodes of angio-oedema. In hereditary angio-oedema, a rare autosomal dominant condition, C1 inhibitor function is reduced due to impaired transcription or production of non-functional protein. The diagnosis is confirmed by the presence of a low serum C4 and absent or greatly reduced C1 inhibitor level or function. The condition can cause fatal laryngeal oedema and features indistinguishable from gastrointestinal tract obstruction. Attacks can be precipitated by trauma, infection and other stimulants. Treatment is graded according to response and the clinical site of swelling. Acute treatment for severe attack is by infusion of C1 inhibitor concentrate and for minor attack attenuated androgens and/or tranexamic acid. Prophylactic treatment is by attenuated androgens and/or tranexamic acid. There are a number of new products in trial, including genetically engineered C1 esterase inhibitor, kallikrein inhibitor and bradykinin B2 receptor antagonist. Individual sections provide special advice with respect to diagnosis, management (prophylaxis and emergency care), special situations (childhood, pregnancy, contraception, travel and dental care) and service specification. [ABSTRACT FROM AUTHOR]

Published
2005
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7. Polysaccharide antibody responses are impaired post bone marrow transplantation for severe combined immunodeficiency, but not other primary immunodeficiencies.

Author

Slatter, M A, Bhattacharya, A, Flood, T J, Spickett, G P, Cant, A J, Abinun, M, and Gennery, A R

Subjects
BONE marrow transplant complications, POLYSACCHARIDES, IMMUNE response, IMMUNODEFICIENCY, IMMUNOLOGY
Abstract

Summary:Established treatment of severe combined immunodeficiencies (SCID) and other primary immunodeficiencies (PID) is bone marrow transplantation (BMT). Normal lymphocyte numbers and protein antigen responses are present within 2 years of BMT, polysaccharide antibody responses appear last. Streptococcus pneumoniae infection causes significant morbidity and mortality post-BMT. Previous studies have shown good protein antigen responses post-BMT for SCID and PID, but had not examined the polysaccharide responses. We retrospectively analysed pneumococcal polysaccharide (PPS) responses in our patient series.In total, 22 SCID and 12 non-SCID PID were evaluated, all >2 years post BMT: 17 SCID, 12 PID received chemotherapy conditioning; 17 SCID, three PID had T-cell depleted (TCD) BMT, others had nonconditioned whole marrow BMT. All had normal Haemophilus influenza B and tetanus antibody responses. Of 22 SCID, 13 vs 11/12 PID responded to PPS vaccine (P=0.05). There was no association with donor age, GvHD, B-cell chimerism, or IgG2 level. Fewer TCD marrow recipients responded to PPS (P=0.04). Analysis of the SCID group showed no association of PPS response with type of marrow received. This is the first study to specifically examine PPS antibody responses following SCID and PID BMT. Pneumococcal conjugate vaccine antibody responses should be examined in these children.Bone Marrow Transplantation (2003) 32, 225-229. doi:10.1038/sj.bmt.1704109 [ABSTRACT FROM AUTHOR]

Published
2003
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8. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome.

Author

Gennery, A. R., Barge, D., O'Sullivan, J. J., Flood, T. J., Abinun, M., and Cant, A. J.

Subjects
AUTOANTIBODIES, AUTOIMMUNITY, BLOOD proteins, IMMUNOGLOBULINS, IMMUNOLOGY, PNEUMOCOCCAL pneumonia, LYMPHOCYTES
Abstract

Background: Although severe T cell immunodeficiency in DiGeorge anomaly is rare, previous studies of humoral function in these patients have found no antibody abnormalities but have not examined the response to polysaccharide antigens. Isolated cases of autoimmunity have been reported. Several patients with 22q11.2 deletion attending our immunology clinic suffered recurrent sinopulmonary infection or autoimmune phenomena.Aims: To investigate humoral immunodeficiency, particularly pneumococcal polysaccharide antibody deficiency, and autoimmune phenomena in a cohort of patients with 22q11.2 deletion.Methods: A history of severe or recurrent infection and autoimmune symptoms were noted. Lymphocyte subsets, immunoglobulins, IgG subclasses, specific vaccine antibodies, and autoantibodies were measured. Subjects were vaccinated with appropriate antigens as indicated.Results: Of 32 patients identified, 26 (81%) had severe or recurrent infection, of which 13 (50%) had abnormal serum immunoglobulin measurements and 11/20 >/=4 years old (55%) had an abnormal response to pneumococcal polysaccharide. Ten of 30 patients (33%) had autoimmune phenomena; six (20%) were symptomatic.Conclusions: Humoral immunodeficiency is more common than previously recognised in patients with 22q11.2 deletion. Normal T cell function and immunoglobulin levels do not exclude poor specific antibody responses. Patients should be referred for formal immunological assessment of cellular and humoral immune function. [ABSTRACT FROM AUTHOR]

Published
2002
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9. Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency

Author

Rensing-Ehl, A., Warnatz, K., Fuchs, S., Schlesier, M., Salzer, U., Draeger, R., Bondzio, I., Joos, Y., Janda, A., Gomes, M., Abinun, M., Hambleton, S., Cant, A., Shackley, F., Flood, T., Waruiru, C., Beutel, K., Siepermann, K., Dueckers, G., and Niehues, T.

Subjects
*IMMUNOLOGY, *LYMPHOPROLIFERATIVE disorders, *AUTOIMMUNITY, *IMMUNODEFICIENCY, *B cells, *APOPTOSIS, *CELL death, *CELLULAR signal transduction
Abstract

Abstract: Autoimmune lymphoproliferative syndrome (ALPS) is mainly caused by defects in the CD95 pathway. Raised CD3+TCRαβ+CD4−CD8− double negative T cells and impaired T cell apoptosis are hallmarks of the disease. In contrast, the B cell compartment has been less well studied. We found an altered distribution of B cell subsets with raised transitional B cells and reduced marginal zone B cells, switched memory B cells and plasma blasts in most of 22 analyzed ALPS patients. Moreover, 5 out of 66 ALPS patients presented with low IgG and susceptibility to infection revealing a significant overlap between ALPS and common variable immunodeficiency (CVID). In patients presenting with lymphoproliferation, cytopenia, hypogammaglobulinemia and impaired B cell differentiation, serum biomarkers were helpful in addition to apoptosis tests for the identification of ALPS patients. Our observations may indicate a role for apoptosis defects in some diseases currently classified as CVID. [Copyright &y& Elsevier]

Published
2010
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10. Allogeneic HSCT for Autoimmune Diseases: A Retrospective Study From the EBMT ADWP, IEWP, and PDWP Working Parties

Author

Raffaella Greco, Myriam Labopin, Manuela Badoglio, Paul Veys, Juliana M. Furtado Silva, Mario Abinun, Francesca Gualandi, Martin Bornhauser, Fabio Ciceri, Riccardo Saccardi, Arjan Lankester, Tobias Alexander, Andrew R. Gennery, Peter Bader, Dominique Farge, John A. Snowden, Greco, R., Labopin, M., Badoglio, M., Veys, P., Silva, J. M. F., Abinun, M., Gualandi, F., Bornhauser, M., Ciceri, F., Saccardi, R., Lankester, A., Alexander, T., Gennery, A. R., Bader, P., Farge, D., and Snowden, J. A.

Subjects
0301 basic medicine, Male, Multivariate analysis, Transplantation Conditioning, medicine.medical_treatment, Autoimmune diseases, hematological autoimmune diseases, Graft vs Host Disease, Hematopoietic stem cell transplantation, Disease, 0302 clinical medicine, Immunology and Allergy, Medicine, Cumulative incidence, Child, Incidence (epidemiology), Incidence, Age Factors, Hematopoietic Stem Cell Transplantation, Middle Aged, Allografts, Cord blood, Child, Preschool, Allogeneic hematopoietic stem cell transplantation, Acute Disease, Female, lcsh:Immunologic diseases. Allergy, Adult, long-term outcome, medicine.medical_specialty, Adolescent, Immunology, 03 medical and health sciences, Sex Factors, Refractory, Non-hematological autoimmune diseases, Internal medicine, Humans, autoimmune diseases, allogeneic hematopoietic stem cell transplantation, Hematological autoimmune diseases, Retrospective Studies, business.industry, Infant, Retrospective cohort study, Long-term outcome, 030104 developmental biology, business, lcsh:RC581-607, non-hematological autoimmune diseases, 030215 immunology
Abstract

Background: This retrospective study assessed the use and long-term outcome of allogeneic hematopoietic stem cell transplantation (HSCT) in patients with severe autoimmune diseases (ADs), reported to the European Society for Blood and Marrow Transplantation (EBMT) registry. Methods: Between 1997 and 2014, 128 patients received allogeneic HSCT for various hematological (n = 49) and non-hematological (n = 79) refractory ADs. The median age was 12.7 years (0.2-62.2). Donors were syngeneic for seven, matched related for 46, unrelated for 51, haploidentical for 15, and cord blood for nine patients. Results: The incidence of grades II-IV acute graft-vs.-host disease (GvHD) was 20.8% at 100 days. Cumulative incidence of chronic GvHD was 27.8% at 5-years. Non-relapse mortality (NRM) was 12.7% at 100-days. Overall survival (OS) and Progression-Free Survival (PFS) were 70.2 and 59.4% at 5-years, respectively. By multivariate analysis, age

Published
2019

11. Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene

Author

Mary Slatter, Anna Villa, Mario Abinun, Paolo Uva, Eleonora Palagano, Cristina Sobacchi, Ciro Menale, Palagano, E., Slatter, M. A., Uva, P., Menale, C., Villa, A., Abinun, M., and Sobacchi, C.

Subjects
0301 basic medicine, Histology, Physiology, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Integrin, Hematopoietic stem cell transplantation, medicine.disease_cause, FERMT3, Neoplasm Protein, 03 medical and health sciences, Skeletal disorder, Osteopetrosi, Genotype, medicine, Humans, Child, Membrane Protein, Exome sequencing, Mutation, business.industry, Bleeding, Homozygote, Bone marrow failure, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Membrane Proteins, Osteopetrosis, medicine.disease, Neoplasm Proteins, 030104 developmental biology, Phenotype, Immunology, Osteoclast, Female, business, Human
Abstract

Osteopetrosis (OPT) is a rare skeletal disorder with phenotypic and genotypic heterogeneity: a variety of clinical features besides the bony defect may be present, and at least ten different genes are known to be involved in the disease pathogenesis. In the framework of this heterogeneity, we report the clinical description of a neonate, first child of consanguineous parents, who had osteoclast-rich osteopetrosis and bone marrow failure in early life, but no other usual classical features of infantile malignant OPT, such as visual or hearing impairments. Because of the severe presentation at birth, the patient received Hematopoietic Stem Cell Transplantation (HSCT) at 2 months of age with successful outcome. Post-HSCT genetic investigation by means of exome sequencing identified a novel homozygous mutation in the Fermitin Family Member 3 (FERMT3) gene, which was predicted to disrupt the functionality of its protein product kindlin 3. Our report provides information relevant to physicians for recognizing patients with one of the rarest forms of infantile malignant OPT, and clearly demonstrates that HSCT cures kindlin 3 deficiency with severe phenotype.

Published
2016

12. Forkhead box protein 3 (FOXP3) mutations lead to increased TH17 cell numbers and regulatory T-cell instability

Author

Federica Barzaghi, Sara Di Nunzio, Sven Olek, Mario Amendola, Rosa Bacchetta, Maria G. Roncarolo, Mario Abinun, Alberto Tommasini, Marco Cipolli, Massimiliano Cecconi, Laura Passerini, Luigi Naldini, Silvia Vignola, Sophie Hambleton, Luisa Guidi, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Passerini, L, Olek, S, Di Nunzio, S, Barzaghi, F, Hambleton, S, Abinun, M, Tommasini, A, Vignola, S, Cipolli, M, Amendola, M, Naldini, L, Guidi, L, Cecconi, M, Roncarolo, M G, Bacchetta, R, Naldini, Luigi, Roncarolo, MARIA GRAZIA, and Bacchetta, R.

Subjects
Male, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, Regulatory T cell, Immunology, Cell, Autoimmune/genetics, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, Forkhead Transcription Factors/genetics, Gene Expression Regulation/genetics, Genetic Diseases, X-Linked/genetics, Humans, Immunologic Deficiency Syndromes/genetics, Polyendocrinopathies, medicine, Forkhead Box, Immunology and Allergy, Polyendocrinopathies, Autoimmune, ComputingMilieux_MISCELLANEOUS, Immunologic Deficiency Syndromes, FOXP3, Forkhead Transcription Factors, Genetic Diseases, X-Linked, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Intestinal Diseases, medicine.anatomical_structure, Gene Expression Regulation, Mutation (genetic algorithm), Mutation, Cancer research
Abstract

International audience

Published
2011

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