ERN RITA

RITA brings together the leading European centres with expertise in diagnosis and treatment of rare immunological disorders. These constitute potentially life-threatening conditions requiring multidisciplinary care using complex diagnostic evaluation and highly specialised therapies. The network divides these conditions into three sub-themes: primary immunodeficiency (PID), autoimmune disorders and autoinflammatory disorders. In addition, there is a sub-theme of paediatric rheumatology which straddles the autoimmune and autoinflammatory sub-themes.

This network builds on the work of European scientific societies which have developed patient registries, clinical guidelines, research collaborations, educational activities and links with patient organisations.

ERN RITA is working to reduce inequalities faced by patients seeking to access diagnostic testing and innovative treatments such as biologic therapies, immunoglobulin replacement, stem cell transplantation and gene therapy.

It aims to link pre-existent registries, develop pan-European clinical guidelines, establish a task force of geneticists for quality control of next generation sequencing technology, agree a common tool for pharmacovigilance in these rare conditions, convene a task force for the correct use and monitoring of biologic treatments in immune-mediated diseases, bring together and improve stem cell and gene therapies for patients, foster collaborations between patient associations, and bring together paediatric and adult specialists across the three themes.

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Publications

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TitleAuthorsDateKeywordsIssue name
Comparison of symptoms between diagnosis and relapse in giant cell arteritis: a retrospective cohort study.Moreel L, Betrains A, De Langhe E, Vanderschueren S, Blockmans D2024-05-17GCA, Giant cell arteritis, relapseRheumatology (Oxford, England)
Paediatric non-infectious granulomatous uveitis: a retrospective cohort study.Nguyen AT, Rousseau A, Bodaghi B, Rossi-Semerano L, Galeotti C, Da Cunha E, Eid L, Labetoulle M, Barreau E, Titah C, Toutée A, Koné-Paut I, Dusser P, Borocco C2024-05-06Granulomatous, Idiopathic, Paediatric, Sarcoidosis, UveitisRheumatology (Oxford, England)
Prevalence and outcome of occult giant cell arteritis.Moreel L, Betrains A, De Langhe E, Blockmans D, Vanderschueren S2024-04-29GCA, Occult giant cell arteritisEuropean journal of internal medicine
Thrombotic manifestations in pediatric Behcet syndrome: A multicenter comparative study from the EUROFEVER registry.Mastrolia MV, Matucci-Cerinic C, Ozen S, Kasapcopur O, Gaggiano C, Koné-Paut I, Cantarini L, Dusser P, Kaya-Akça Ü, Yildiz M, Brunner J, Filocamo G, Gallizzi R, Insalaco A, Pastore S, Rigante D, Sanchez-Manubens J, Tsitsami E, Ruperto N, Gattorno M, Simonini G2024-04-23Behçet syndrome, Child, ThrombosisSeminars in arthritis and rheumatism
Clinical and functional spectrum of RAC2-related immunodeficiency.Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Sepännen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP2024-04-11Blood
Anxiety and depression symptoms in adolescents and young adults with juvenile idiopathic arthritis: results of an outpatient screening.Milatz F, Klotsche J, Niewerth M, Sengler C, Windschall D, Kallinich T, Dressler F, Trauzeddel R, Holl RW, Foeldvari I, Brück N, Temming S, Hospach T, Warschburger P, Berendes R, Erbis G, Kuemmerle-Deschner JB, Weller-Heinemann F, Haas JP, Müller-Stierlin AS, Mutter A, Meissner T, Baumeister H, Minden K2024-04-10Adolescents, Anxiety, Depression, Internalizing symptoms, Juvenile idiopathic arthritis, Mental health, ScreeningArthritis research & therapy
MOG Antibodies Restricted to CSF in Children With Inflammatory CNS Disorders.Olivé-Cirera G, Bruijstens AL, Fonseca EG, Chen LW, Caballero E, Martinez-Hernandez E, Guasp M, Sepúlveda M, Naranjo L, Ruiz-García R, Blanco Y, Saiz A, Dalmau JO, Armangue T2024-04-09Neurology
Long-term efficacy and safety of subcutaneous tocilizumab in clinical trials of polyarticular or systemic juvenile idiopathic arthritis.Brunner HI, Ruperto N, Ramanan AV, Horneff G, Minden K, Calvo Penades I, Alexeeva E, Cleary G, Stern SM, Kone-Paut I, Maldonado Velázquez MDR, Rabinovich CE, Remesal A, Silva CA, Nikishina I, Zucchetto M, Brockwell L, Gordon O, Nagel S, De Benedetti F2024-03-29Autoinflammatory conditions, Biologic therapies, Juvenile idiopathic arthritis, Paediatric/juvenile rheumatology, Pharmacology, clinical trial, interleukin-6, long-term extension, pharmacovigilance, tocilizumabRheumatology (Oxford, England)
Prevalence, characteristics, and outcome of subclinical vasculitis in polymyalgia rheumatica: a retrospective cohort study.Moreel L, Boeckxstaens L, Betrains A, Smans T, Molenberghs G, Van Laere K, De Langhe E, Vanderschueren S, Blockmans D2024-03-28PMR, Polymyalgia rheumatica, subclinical vasculitisRheumatology (Oxford, England)
Corrigendum to "Epidemiology and predictors of relapse in giant cell arteritis: A systematic review and meta-analysis" [Joint Bone Spine 2023;90 :105494].Moreel L, Betrains A, Molenberghs G, Vanderschueren S, Blockmans D2024-03-07Joint bone spine
[Should patients with ANCA-associated vasculitis undergoing maintenance therapy with rituximab receive cotrimoxazole prophylaxis?].Mahrhofer H2024-03-01Zeitschrift fur Rheumatologie
Effectiveness and Safety of Biosimilars in Pediatric Non-infectious Uveitis: Real-Life Data from the International AIDA Network Uveitis Registry.Tarsia M, Vitale A, Gaggiano C, Sota J, Maselli A, Bellantonio C, Guerriero S, Dammacco R, La Torre F, Ragab G, Hegazy MT, Fonollosa A, Paroli MP, Del Giudice E, Maggio MC, Cattalini M, Fotis L, Conti G, Mauro A, Civino A, Diomeda F, de-la-Torre A, Cifuentes-González C, Tharwat S, Hernández-Rodríguez J, Gómez-Caverzaschi V, Pelegrín L, Babu K, Gupta V, Minoia F, Ruscitti P, Costi S, Breda L, La Bella S, Conforti A, Mazzei MA, Carreño E, Amin RH, Grosso S, Frediani B, Tosi GM, Balistreri A, Cantarini L, Fabiani C2024-03-01Adverse events, Biosimilars, Drug retention rate, Pediatric uveitis, Steroid-sparing effect, Tumor necrosis factor (TNF)-inhibitorsOphthalmology and therapy
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome.Della Mina E, Jackson KJL, Crawford AJI, Faulks ML, Pathmanandavel K, Acquarola N, O'Sullivan M, Kerre T, Naesens L, Claes K, Goodnow CC, Haerynck F, Kracker S, Meyts I, D'Orsogna LJ, Ma CS, Tangye SG2024-02-16AICDA, HIGM2, Human B cells, Ig class switching, Somatic hypermutationJournal of clinical immunology
[Management of ANCA-associated vasculitides].Löffler C, Hellmich B2024-02-01Cyclophosphamide, Eosinophilic granulomatosis with polyangiitis, Granulomatosis with polyangiitis, Microscopic polyangiitis, RituximabInnere Medizin (Heidelberg, Germany)
Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review.Morán-Álvarez P, Gianviti A, Diomedi-Camassei F, Ginevrino M, de Benedetti F, Bracaglia C2024-01-18Children, Genetic, Monogenic, Noonan syndrome, RAS/MAPK, SHOC2, Systemic lupus erythematosus, Zebra bodiesPediatric rheumatology online journal
Association between vascular FDG uptake during follow-up and the development of thoracic aortic aneurysms in giant cell arteritis.Blockmans D, Moreel L, Betrains A, Vanderschueren S, Coudyzer W, Boeckxstaens L, Van Laere K2024-01-01PET, aneurysm, aorta, giant cell arteritis (GCA), vasculitisFrontiers in medicine
Correction: Clinical and laboratory features associated with macrophage activation syndrome in Still's disease: data from the international AIDA Network Still's Disease Registry.Triggianese P, Vitale A, Lopalco G, Mayrink Giardini HA, Ciccia F, Al-Maghlouth I, Ruscitti P, Sfikakis PP, Iannone F, de Brito Antonelli IP, Patrone M, Asfina KN, Di Cola I, Laskari K, Gaggiano C, Tufan A, Sfriso P, Dagna L, Giacomelli R, Hinojosa-Azaola A, Ragab G, Fotis L, Direskeneli H, Spedicato V, Dagostin MA, Iacono D, Ali HH, Cipriani P, Sota J, Kardas RC, Bindoli S, Campochiaro C, Navarini L, Gentileschi S, Martín-Nares E, Torres-Ruiz J, Saad MA, Kourtesi K, Alibaz-Oner F, Sevik G, Iagnocco A, Makowska J, Govoni M, Monti S, Maggio MC, La Torre F, Del Giudice E, Hernández-Rodríguez J, Bartoloni E, Emmi G, Chimenti MS, Maier A, Simonini G, Conti G, Olivieri AN, Tarsia M, De Paulis A, Lo Gullo A, Więsik-Szewczyk E, Viapiana O, Ogunjimi B, Tharwat S, Erten S, Nuzzolese R, Karamanakos A, Frassi M, Conforti A, Caggiano V, Marino A, Sebastiani GD, Gidaro A, Tombetti E, Carubbi F, Rubegni G, Cartocci A, Balistreri A, Fabiani C, Frediani B, Cantarini L2024-01-01Internal and emergency medicine
Might maintenance therapy be discontinued once clinical remission is achieved in ANCA-associated vasculitis?Roccatello D, Padoan R, Sciascia S, Iorio L, Nic An Ríogh E, Little MA2024-01-01ANCA vasculitis, Maintenance therapy, rituximab, Off therapy, Relapse, Stopping therapyAutoimmunity reviews
Biallelic mutations in the CFHR genes underlying atypical hemolytic uremic syndrome in a patient with catastrophic adult-onset Still's disease and recurrent macrophage activation syndrome: A case report.Dillemans L, Bekhuis Y, Betrains A, Yu K, van Hemelen M, Pörtner N, De Somer L, Matthys P, Breckpot J, Tousseyn T, Peetermans M, Proost P, Wouters C, Vanderschueren S2023-12-01Adult-onset Still's disease, Atypical hemolytic uremic syndrome, Autoinflammation, Macrophage activation syndromeClinical immunology (Orlando, Fla.)
Derivation and validation of four patient clusters in Still's disease, results from GIRRCS AOSD-study group and AIDA Network Still Disease Registry.Ruscitti P, Masedu F, Vitale A, Di Cola I, Caggiano V, Di Muzio C, Cipriani P, Valenti M, Berardicurti O, Navarini L, Iacono D, Pantano I, Mauro D, Ciccia F, Rossi S, De Stefano L, Monti S, Bugatti S, Montecucco C, Caso F, Costa L, Prete M, Perosa F, Iagnocco A, Atzeni F, Guggino G, Giardini H, Antonelli IPB, Almaghlouth IA, Asfina K, Direskeneli H, Alibaz-Oner F, Sevik G, Tufan A, Sfikakis PP, La Torre F, Hinojosa-Azaola A, Martín-Nares E, Torres-Ruiz J, Ragab G, Maggio MC, Makowska J, Del Giudice E, Bartoloni E, Emmi G, Govoni M, Lo Gullo A, Lopalco G, Simonini G, Fotis L, Ogunjimi B, Tharwat S, Frediani B, Maier A, Carubbi F, Dagna L, Erten S, Gidaro A, Hernández-Rodríguez J, Sfriso P, Fabiani C, Giacomelli R, Cantarini L2023-11-01Arthritis, Arthritis, Juvenile, Still's Disease, Adult-OnsetRMD open
Clinical and laboratory features associated with macrophage activation syndrome in Still's disease: data from the international AIDA Network Still's Disease Registry.Triggianese P, Vitale A, Lopalco G, Mayrink Giardini HA, Ciccia F, Al-Maghlouth I, Ruscitti P, Sfikakis PP, Iannone F, de Brito Antonelli IP, Patrone M, Asfina KN, Di Cola I, Laskari K, Gaggiano C, Tufan A, Sfriso P, Dagna L, Giacomelli R, Hinojosa-Azaola A, Ragab G, Fotis L, Direskeneli H, Spedicato V, Dagostin MA, Iacono D, Ali HH, Cipriani P, Sota J, Kardas RC, Bindoli S, Campochiaro C, Navarini L, Gentileschi S, Martín-Nares E, Torres-Ruiz J, Saad MA, Kourtesi K, Alibaz-Oner F, Sevik G, Iagnocco A, Makowska J, Govoni M, Monti S, Maggio MC, La Torre F, Del Giudice E, Hernández-Rodríguez J, Bartoloni E, Emmi G, Chimenti MS, Maier A, Simonini G, Conti G, Olivieri AN, Tarsia M, De Paulis A, Lo Gullo A, Więsik-Szewczyk E, Viapiana O, Ogunjimi B, Tharwat S, Erten S, Nuzzolese R, Karamanakos A, Frassi M, Conforti A, Caggiano V, Marino A, Sebastiani GD, Gidaro A, Tombetti E, Carubbi F, Rubegni G, Cartocci A, Balistreri A, Fabiani C, Frediani B, Cantarini L2023-11-01Arthritis, Autoinflammatory diseases, Diagnosis, MAS, PrognosisInternal and emergency medicine
Haematological and other manifestations in the presence of antiphospholipid antibodies in a multicentric paediatric cohort.Morán Álvarez P, Andreu-Suárez Á, Caballero-Mota L, Gassiot-Riu S, Berrueco-Moreno R, Calzada-Hernández J, Vázquez-Díaz M, Boteanu A, Messia V, Giovannelli L, De Benedetti F, Antón-López J, Bracaglia C2023-11-01Clinical and experimental rheumatology
Haploidentical Stem Cell Transplantation with Post-transplantation Cyclophosphamide in High-Risk Chronic Granulomatous Disease Patient with Invasive Mucormycosis.Ruttens D, Philippet P, Bucciol G, Meyts I2023-11-01Journal of clinical immunology
Association Between Vascular 18F-Fluorodeoxyglucose Uptake at Diagnosis and Change in Aortic Dimensions in Giant Cell Arteritis : A Cohort Study.Moreel L, Coudyzer W, Boeckxstaens L, Betrains A, Molenberghs G, Vanderschueren S, Claus E, Van Laere K, Blockmans D2023-10-01Annals of internal medicine
Feasibility of Conducting Comparative Effectiveness Research and Validation of a Clinical Disease Activity Score for Chronic Nonbacterial Osteomyelitis.Wu EY, Oliver M, Scheck J, Lapidus S, Akca UK, Yasin S, Stern SM, Insalaco A, Pardeo M, Simonini G, Marrani E, Wang X, Huang B, Kovalick LK, Rosenwasser N, Casselman G, Liau A, Shao Y, Yang C, Mosa DM, Tucker L, Girschick H, Laxer RM, Akikusa JD, Hedrich CM, Onel K, Dedeoglu F, Twilt M, Ferguson PJ, Ozen S, Zhao Y2023-10-01chronic nonbacterial osteomyelitis, chronic recurrent multifocal osteomyelitis, clinical disease activity score, comparative effectiveness research, consensus treatment plansThe Journal of rheumatology
Autoantibodies against the NineTeen complex and U5 RNP in systemic sclerosis.Vulsteke JB, Smith V, Bonroy C, Lenaerts JL, Derua R, Wuyts WA, Blockmans D, De Haes P, Piette Y, De Langhe E, Bossuyt X2023-09-01Journal of autoimmunity
Association between diagnostic outcomes and symptom pattern in fever and inflammation of unknown origin.Betrains A, Moreel L, Wright WF, Blockmans D, Vanderschueren S2023-09-01Continuous, Episodic, Fuo, Iuo, Pattern, RecurrentEuropean journal of internal medicine
Incident psoriasis under treatment with tumor necrosis factor-α inhibitors in juvenile idiopathic arthritis patients-analysis of the BiKeR registry.Zimmer A, Klein A, Kuemmerle-Deschner JB, Dressler F, Onken N, Brueck N, Fasshauer M, Hospach T, Hufnagel M, Foell D, Horneff G2023-09-01Adalimumab, Etanercept, Golimumab, Psoriasis, TocilizumabRheumatology international
Negative 18F-FDG-PET imaging in fever and inflammation of unknown origin: now what?Betrains A, Moreel L, Wright WF, Blockmans D, Vanderschueren S2023-09-0118F-FDG-PET, FUO, IUOInternal and emergency medicine
Glimpses into treating GLILD.Martelius T, Seppänen MRJ2023-08-01Interstitial lung disease, common variable, glucocorticoids, granulomatous-lymphocytic interstial lung disease, immunodeficiency, immunomodulatory therapy, inborn errors of immunity, primary immunodeficienciesThe Journal of allergy and clinical immunology
Cold Urticaria Syndromes: Diagnosis and Management.Diaz VL, Gribbons KB, Yazdi-Nejad K, Kuemmerle-Deschner J, Wanderer AA, Broderick L, Hoffman HM2023-08-01Cold urticaria, Factor XII-associated cold autoinflammatory syndrome, Familial cold autoinflammatory syndrome, NLRP3, PLCG2The journal of allergy and clinical immunology. In practice
Efficacy and Safety of Adalimumab in Pediatric Non-infectious Non-anterior Uveitis: Real-life Experience From the International AIDA Network Uveitis Registry.Vitale A, Casa FD, Guerriero S, Ragab G, Mauro A, Caggiano V, Cattalini M, Del Giudice E, Favale R, Gaggiano C, Bellicini I, Paroli MP, Hegazy MT, Sota J, Tufan A, Balistreri A, Almaghlouth I, La Torre F, Więsik-Szewczyk E, Tarsia M, Hinojosa-Azaola A, Martín-Nares E, Frediani B, Tosi GM, Fonollosa A, Hernández-Rodríguez J, Amin RH, Lopalco G, Rigante D, Cantarini L, Fabiani C2023-08-01Anti-TNF, Autoinflammatory diseases, Clinical management, Ocular involvement, Personalized medicine, Rare diseasesOphthalmology and therapy
Microbiota transplant to control inflammation in a patient with NLRC4 gain-of-function-induced disease.Bracaglia C, Marucci G, Del Chierico F, Russo A, Pardeo M, Pires Marafon D, Quagliariello A, Caiello I, Rea F, Fingerhutova S, Insalaco A, Prencipe G, Dolezalova P, De Benedetti F, Putignani L2023-07-01The Journal of allergy and clinical immunology
Diagnostic yield of combined cranial and large vessel PET/CT, ultrasound and MRI in giant cell arteritis: A systematic review and meta-analysis.Moreel L, Betrains A, Doumen M, Molenberghs G, Vanderschueren S, Blockmans D2023-07-01Diagnostic accuracy, GCA, Giant cell arteritis, MRI, PET/CT, UltrasoundAutoimmunity reviews
The future of polymyalgia rheumatica research: What can we learn from rheumatoid arthritis?Moreel L, Doumen M, Betrains A, Blockmans D, Verschueren P, Vanderschueren S2023-07-01PMR, Polymyalgia rheumatica, Rheumatoid arthritisJoint bone spine
The hallux patch: A new cutaneous sign of anti-MDA5-positive dermatomyositis?Vulsteke JB, De Langhe E, De Haes P2023-04-05Journal of the European Academy of Dermatology and Venereology : JEADV
Higher diagnostic yield of 18F-FDG PET in inflammation of unknown origin compared to fever of unknown origin.Betrains A, Boeckxstaens L, Moreel L, Wright WF, Blockmans D, Van Laere K, Vanderschueren S2023-04-01European journal of internal medicine
Identification of new telomere- and telomerase-associated autoantigens in systemic sclerosis.Vulsteke JB, Smith V, Bonroy C, Derua R, Blockmans D, De Haes P, Vanderschueren S, Lenaerts JL, Claeys KG, Wuyts WA, Verschueren P, Vanhandsaeme G, Piette Y, De Langhe E, Bossuyt X2023-02-01Autoantibodies, Mass spectrometry, Systemic sclerosis, Telomerase, TelomereJournal of autoimmunity
DNA replication-associated inborn errors of immunity.Willemsen M, Staels F, Gerbaux M, Neumann J, Schrijvers R, Meyts I, Humblet-Baron S, Liston A2023-02-01DNA replication, developmental delay, inborn errors of immunity, leukocytes, mutation, perturbed growth, primary immunodeficiencyThe Journal of allergy and clinical immunology
Elevated monocyte HLA-DR in pediatric secondary hemophagocytic lymphohistiocytosis: a retrospective study.Raimbault S, Monneret G, Gossez M, Venet F, Belot A, Zekre F, Remy S, Javouhey E2023-01-01cytokine storm, hemophagocytic lymphohistiocytosis, lymphocyte activation, macrophage activation syndrome, monocyte HLA-DRFrontiers in immunology
Epidemiology and predictors of relapse in giant cell arteritis: A systematic review and meta-analysis.Moreel L, Betrains A, Molenberghs G, Vanderschueren S, Blockmans D2023-01-01GCA, Giant cell arteritis, RelapseJoint bone spine
Etiological spectrum and outcome of fever and inflammation of unknown origin. Does symptom duration matter?Betrains A, Wright WF, Moreel L, Staels F, Blockmans D, Vanderschueren S2022-12-01FUO, Fever of unknown origin, IUO, Inflammation of unknown origin, Time to diagnosisEuropean journal of internal medicine
Development and implementation of the AIDA International Registry for patients with Behçet's disease.Vitale A, Della Casa F, Ragab G, Almaghlouth IA, Lopalco G, Pereira RM, Guerriero S, Govoni M, Sfikakis PP, Giacomelli R, Ciccia F, Monti S, Ruscitti P, Piga M, Lomater C, Tufan A, Opris-Belinski D, Emmi G, Hernández-Rodríguez J, Şahin A, Sebastiani GD, Bartoloni E, Akkoç N, Gündüz ÖS, Cattalini M, Conti G, Hatemi G, Maier A, Parronchi P, Del Giudice E, Erten S, Insalaco A, Li Gobbi F, Maggio MC, Shahram F, Caggiano V, Hegazy MT, Asfina KN, Morrone M, Prado LL, Dammacco R, Ruffilli F, Arida A, Navarini L, Pantano I, Cavagna L, Conforti A, Cauli A, Marucco EM, Kucuk H, Ionescu R, Mattioli I, Espinosa G, Araújo O, Karkaş B, Canofari C, Sota J, Laymouna AH, Bedaiwi AA, Colella S, Giardini HAM, Albano V, Lo Monaco A, Fragoulis GE, Kardas RC, Berlengiero V, Hussein MA, Ricci F, La Torre F, Rigante D, Więsik-Szewczyk E, Frassi M, Gentileschi S, Tosi GM, Dagostin MA, Mahmoud AAA, Tarsia M, Alessio G, Cimaz R, Giani T, Gaggiano C, Iannone F, Cipriani P, Mourabi M, Spedicato V, Barneschi S, Aragona E, Balistreri A, Frediani B, Fabiani C, Cantarini L2022-10-01Autoinflammatory diseases, Behçet’s disease, International registry, Precision medicine, Rare diseases, UveitisInternal and emergency medicine
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.Hashem H, Bucciol G, Ozen S, Unal S, Bozkaya IO, Akarsu N, Taskinen M, Koskenvuo M, Saarela J, Dimitrova D, Hickstein DD, Hsu AP, Holland SM, Krance R, Sasa G, Kumar AR, Müller I, de Sousa MA, Delafontaine S, Moens L, Babor F, Barzaghi F, Cicalese MP, Bredius R, van Montfrans J, Baretta V, Cesaro S, Stepensky P, Benedicte N, Moshous D, Le Guenno G, Boutboul D, Dalal J, Brooks JP, Dokmeci E, Dara J, Lucas CL, Hambleton S, Wilson K, Jolles S, Koc Y, Güngör T, Schnider C, Candotti F, Steinmann S, Schulz A, Chambers C, Hershfield M, Ombrello A, Kanakry JA, Meyts I2022-10-01Journal of clinical immunology
Tapering of biological treatment in autoinflammatory diseases: a scoping review.Welzel T, Oefelein L, Twilt M, Pfister M, Kuemmerle-Deschner JB, Benseler SM2022-08-13AID, Dose-concentration-response relationship, Personalized treatment, Pharmacodynamics, Pharmacokinetics, Treat to target, bDMARDsPediatric rheumatology online journal
It is about time: the first validated biomarker for early diagnosis of systemic juvenile idiopathic arthritis.Pardeo M, Vastert SJ, De Benedetti F2022-07-06Rheumatology (Oxford, England)
COVID-19 infection among patients with autoinflammatory diseases: a study on 117 French patients compared with 1545 from the French RMD COVID-19 cohort: COVIMAI - the French cohort study of SARS-CoV-2 infection in patient with systemic autoinflammatory diseases.Bourguiba R, Kyheng M, Koné-Paut I, Rouzaud D, Avouac J, Devaux M, Abdallah NA, Fautrel B, Ferreira-Maldent N, Langlois V, Ledoult E, Nielly H, Queyrel V, Sellam J, Tieulie N, Chazerain P, Evon P, Labreuche J, Savey L, Hentgen V, Grateau G, Georgin-Lavialle S2022-05-01COVID-19, autoimmune diseases, biological therapy, familial Mediterranean feverRMD open
Canakinumab in systemic juvenile idiopathic arthritis: real-world data from a retrospective Italian cohort.De Matteis A, Bracaglia C, Pires Marafon D, Piscitelli AL, Alessio M, Naddei R, Orlando F, Filocamo G, Minoia F, Ravelli A, Tibaldi J, Cimaz R, Marino A, Simonini G, Mastrolia MV, La Torre F, Tricarico I, Licciardi F, Montin D, Maggio MC, Alizzi C, Martini G, Civino A, Gallizzi R, Olivieri AN, Ardenti Morini F, Conti G, De Benedetti F, Pardeo M2022-04-11canakinumab, clinically inactive disease, systemic juvenile idiopathic arthritisRheumatology (Oxford, England)
Diagnostic accuracy and validation of 18F-fluorodeoxyglucose positron emission tomography scores in a large cohort of patients with polymyalgia rheumatica.Moreel L, Boeckxstaens L, Betrains A, Van Hemelen M, Vanderschueren S, Van Laere K, Blockmans D2022-01-01Leuven/Groningen score, PET, diagnostic accuracy, leuven score, polymyalgia rheumatica (PMR), validationFrontiers in medicine
Vaccination completeness in children with rheumatic diseases: A longitudinal, observational multicenter cohort study in Switzerland.Welzel T, Kuemmerle-Deschner J, Sluka C, Carlomagno R, Cannizzaro Schneider E, Kaiser D, Hofer M, Hentgen V, Woerner A2022-01-01immunosuppression, infection risk, vaccination, vaccination adherence, vaccination recommendationsFrontiers in pediatrics
Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations.Hashem H, Dimitrova D, Meyts I2022-01-01DADA2, HCT, bone marrow failure, deficiency of adenosine deaminase 2, hematopoietic cell transplantation, immune dysregulation, immunodeficiency, inborn error of immunityFrontiers in immunology
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.Hashem H, Bucciol G, Ozen S, Unal S, Bozkaya IO, Akarsu N, Taskinen M, Koskenvuo M, Saarela J, Dimitrova D, Hickstein DD, Hsu AP, Holland SM, Krance R, Sasa G, Kumar AR, Müller I, de Sousa MA, Delafontaine S, Moens L, Babor F, Barzaghi F, Cicalese MP, Bredius R, van Montfrans J, Baretta V, Cesaro S, Stepensky P, Benedicte N, Moshous D, Le Guenno G, Boutboul D, Dalal J, Brooks JP, Dokmeci E, Dara J, Lucas CL, Hambleton S, Wilson K, Jolles S, Koc Y, Güngör T, Schnider C, Candotti F, Steinmann S, Schulz A, Chambers C, Hershfield M, Ombrello A, Kanakry JA, Meyts I2021-10-01Autoinflammation, Bone marrow failure, DADA2, Deficiency of adenosine deaminase 2, Hematopoietic cell transplantation, Immunodeficiency, Inborn error of immunityJournal of clinical immunology
Tocilizumab for massive refractory pleural effusion in an adolescent with systemic lupus erythematosus.De Matteis A, Sacco E, Celani C, Uva A, Messia V, Nicolai R, Pardeo M, De Benedetti F, Bracaglia C2021-09-16IL-6, JSLE (Juvenile-onset Systemic Lupus Erythematosus) - Pleural effusion, TocilizumabPediatric rheumatology online journal
Assessment of disease activity using a whole-body MRI derived radiological activity index in chronic nonbacterial osteomyelitis.Capponi M, Pires Marafon D, Rivosecchi F, Zhao Y, Pardeo M, Messia V, Tanturri de Horatio L, Tomà P, De Benedetti F, Insalaco A2021-08-14CROMRIS, Children, Chronic nonbacterial osteomyelitis, Disease activity, PGA, Whole body magnetic resonance imagingPediatric rheumatology online journal
Granulomatous manifestations associated with COVID19 infection: Is there a link between these two diseases?Mertz P, Jeannel J, Guffroy A, Lescuyer S, Korganow AS, Rondeau-Lutz M, Weber JC2021-06-01Angiotensin-converting enzyme II, COVID19, Granulomatous disease, Mucosal associated invariant T cells, SarcoidosisAutoimmunity reviews
Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).Neven Q, Boulanger C, Bruwier A, de Ville de Goyet M, Meyts I, Moens L, Van Damme A, Brichard B2021-01-01Autoimmunity, KRAS, NRAS, Ras-associated autoimmune leukoproliferative disorder, malignancyJournal of clinical immunology
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.Van Nieuwenhove E, Barber JS, Neumann J, Smeets E, Willemsen M, Pasciuto E, Prezzemolo T, Lagou V, Seldeslachts L, Malengier-Devlies B, Metzemaekers M, Haßdenteufel S, Kerstens A, van der Kant R, Rousseau F, Schymkowitz J, Di Marino D, Lang S, Zimmermann R, Schlenner S, Munck S, Proost P, Matthys P, Devalck C, Boeckx N, Claessens F, Wouters C, Humblet-Baron S, Meyts I, Liston A2020-11-01SEC61A1, Severe congenital neutropenia, endoplasmic reticulum stress, unfolded protein response, whole exome sequencingThe Journal of allergy and clinical immunology
Risk factors for vascular liver diseases: Vascular liver diseases: position papers from the francophone network for vascular liver diseases, the French Association for the Study of the Liver (AFEF), and ERN-rare liver.Soret J, Debray D, Fontbrune FS, Kiladjian JJ, Saadoun D, Latour RP, Valla D, Hernandez-Gea V, Hillaire S, Dutheil D, Plessier A, Bureau C, De Raucourt E2020-09-01Behçet's disease, Thrombosis, Vascular liver diseaseClinics and research in hepatology and gastroenterology
Polyendocrine autoimmune syndromes reveal mechanisms of tolerance and autoimmunity.Pujol-Borrell R, Colobran Oriol R2020-06-12Medicina clinica
Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies.Ridao-Manonellas S, Fábregas-Bofill A, Núñez-Rueda G, González-Amores M, García-Prat M, López-Seguer L, Rivière JG, Martín-Nalda A, Mendoza-Palomar N, Melendo-Pérez S, Soler-Palacín P2020-05-01Primary immunodeficiencies, adolescence, children, fatigue, health-related quality of lifeJournal of clinical immunology
Neurologic syndromes related to anti-GAD65: Clinical and serologic response to treatment.Muñoz-Lopetegi A, de Bruijn MAAM, Boukhrissi S, Bastiaansen AEM, Nagtzaam MMP, Hulsenboom ESP, Boon AJW, Neuteboom RF, de Vries JM, Sillevis Smitt PAE, Schreurs MWJ, Titulaer MJ2020-05-01Neurology(R) neuroimmunology & neuroinflammation
Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.Bucciol G, Meyts I2020-01-01hematopoietic stem cell transplantation, inborn error of immunity, next generation sequencing, primary immunodeficiency, targeted therapyF1000Research
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Last update: May 18th, 2024 on 01:30