| Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients. | Duthoo E, Beyls E, Backers L, Gudjónsson T, Huang P, Jonckheere L, Riemann S, Parton B, Du L, Debacker V, De Bruyne M, Hoste L, Baeyens A, Vral A, Van Braeckel E, Staal J, Mortier G, Kerre T, Pan-Hammarström Q, Sørensen CS, Haerynck F, Claes KBM, Tavernier SJ | 2025-05-05 | | The Journal of experimental medicine |
| Profiling type I and II interferon responses reveals distinct subgroups of pediatric patients with autoinflammatory disorders. | Nombel A, Perret M, Trouillet-Assant S, Villard M, Lombard C, Garnier L, Foray AP, Benezech S, Pescarmona R, Khaldi-Plassart S, Walzer T, Belot A, Viel S | 2025-05-01 | IFN signature, Interferonopathy, NanoString, Simoa, juvenile idiopathic arthritis, lupus, type I interferon, type II interferon | The journal of allergy and clinical immunology. Global |
| Unmet needs and research gaps in Still's disease across ages: proceedings from a pediatric and adult joint expert panel. | Bracaglia C, Minoia F, Vastert SJ, Kessel C, Dagna L, Ravelli A, De Benedetti F | 2025-04-23 | Adult-onset Still’s disease, Biological agents, Diagnosis, Lung disease, Macrophage activation syndrome, Novel biomarkers, Still’s disease, Systemic juvenile idiopathic arthritis, Treatment, Unmet needs | Pediatric rheumatology online journal |
| Long-term efficacy and safety of colchicine and anti-IL-1 blockers in FMF: results from the Eurofever multicenter observational study. | Bustaffa M, Bella S, Bayindir Y, Amaryan G, Gallizzi R, Papadopoulou-Alataki E, Fabio G, Assalia N, Amarilyo G, Bakkaloglu S, Jesenak M, Breda L, Anton J, Legger E, Alessio M, Simonini G, Rigante D, Obici L, Kuemmerle-Deschner J, Kasapcopur O, Insalaco A, Glerup M, Frenkel J, Brunner J, Horneff G, Sánchez-Manubens J, Cantarini L, Spagnolo A, Alataki S, Carrabba M, Belder N, Porreca A, Caorsi R, Ruperto N, Gattorno M, Ozen S | 2025-04-18 | Anakinra, Autoinflammatory diseases, Canakinumab, Colchicine, FMF, Familial Mediterranean fever, Safety | Journal of autoimmunity |
| Serum interleukin-18 levels are specifically elevated in auto-inflammatory diseases involving the pyrin inflammasome: A study on 516 patients. | Elhani I, Calas L, Bejar F, Fautrel B, Pieroni L, Hentgen V, Mertz P, Mitrovic S, Delplanque M, Savey L, Georgin-Lavialle S | 2025-04-08 | Auto-inflammatory diseases, Biomarkers, Inflammasomes, Interleukin-18 | European journal of internal medicine |
| Low Th17 cells in patients with cystic fibrosis and allergic broncho-pulmonary aspergillosis. | Timpano S, Bellicini I, Poli P, Moratto D, Cortesi M, Salvi M, Chiarini M, Padoan R, Pezzotta R, Fiorentini S, Caruso A, Giacomelli M, Badolato R | 2025-04-01 | Th17 cells, allergic bronchopulmonary aspergillosis, cystic fibrosis, pediatrics | Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology |
| Digital clubbing, an unfamiliar feature of cryopyrin-associated periodic syndrome: a cohort study. | Monfort JB, Zhu YY, El Moussaoui M, Grateau G, Soria A, Savey L, Georgin-Lavialle S | 2025-03-25 | CAPS, Cryopyrin-associated autoinflammatory syndrome, NLRP3-AID, NLRP3-associated autoinflammatory diseases, digital clubbing | Journal of the American Academy of Dermatology |
| Silent lupus nephritis: a pediatric center experience of baseline kidney biopsies and review of the published evidence. | Laestadius A, Grisaru S, Twilt M, Renson T, Shao T, Benediktsson H, Luca N, Schmeling H, Benseler SM, Hamiwka LA | 2025-03-24 | Childhood-onset systemic lupus erythematosus, Children, Kidney biopsy, Silent lupus nephritis, Systemic lupus erythematosus | Pediatric nephrology (Berlin, Germany) |
| The needed daily dose of colchicine in patients with Familial Mediterranean Fever may be higher in women: a study on behalf of the JIR cohort. | Di Cola I, Bartoli A, Savey L, Bensalek F, Delplanque M, Bourguiba R, Aknouche Z, Kone-Paut I, Rossi-Semerano L, Melki I, Bader-Meunier B, Neven B, Quartier P, Boursier G, Cuisset L, Grateau G, Hentgen V, Georgin-Lavialle S | 2025-03-19 | Colchicine, Familial Mediterranean Fever, Female sex, Posology, Weight | Arthritis research & therapy |
| The unique challenges of childhood-onset systemic lupus erythematosus and lupus nephritis patients: a proposed framework for an individualized transitional care plan. | Renson T, Lightstone L, Ciurtin C, Gaymer C, Marks SD | 2025-03-13 | Adolescents and young adults, Childhood-onset systemic lupus erythematosus, Lupus nephritis | Pediatric nephrology (Berlin, Germany) |
| Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey. | Zucchi D, Marinello D, Tani C, Fulvio G, Aguilera S, Benachi A, Biller R, Blanco I, Borgards P, Boiteux MC, Brandi ML, Costafreda E, Fonseca JE, Fredi M, Iotova V, Louisse S, Nalli C, Onali M, Power B, Rousset-Jablonski C, Sturz D, Tincani A, Vieira A, Capela S, Dan D, De Backer J, de Die-Smulders C, Dufke A, Artzner EL, Limongelli G, Lorenz B, Papenthin W, Pascau MJ, Raidt J, Ray-Coquard I, Rimmer R, Röhl C, Schneider H, Yap T, Talarico R, Mosca M | 2025-03-10 | Pregnancy-related issues, Rare diseases, Unmet needs | Orphanet journal of rare diseases |
| Hepatomegaly as the First Clue to Familial Mediterranean Fever. | Bourguiba R, Guery R, Savey L, Cuisset L, Georgin-Lavialle S | 2025-03-01 | | Clinics and research in hepatology and gastroenterology |
| Highlights from the plenary session: advances in treatment (I). | Smith RM, Hellmich B | 2025-03-01 | ANCA-associated vasculitis, abatacept, avacopan, glucocorticoids, infection, treatment, vaccination | Rheumatology (Oxford, England) |
| Direct comparison of the diagnostic accuracy of PET/CT, cranial MRI, ultrasound and temporal artery biopsy in giant cell arteritis. | Moreel L, Betrains A, Boeckxstaens L, Pieters G, Wuyts E, Weynand B, Fourneau I, Van Laere K, Demaerel P, De Langhe E, Vanderschueren S, Blockmans D | 2025-02-26 | GCA, Giant cell arteritis, MRI, PET/CT, Temporal artery biopsy, Ultrasound | European journal of nuclear medicine and molecular imaging |
| Systemic juvenile idiopathic arthritis and adult-onset Still's disease are the same disease and should now be designated by the same unique name, Still's disease. | Mitrovic S, Fautrel B | 2025-02-25 | Adult-onset Still's disease, EULAR, PRES, Still’s disease, macrophage activation syndrome, recommendations, systemic juvenile idiopathic arthritis | Joint bone spine |
| Validation of the polymyalgia rheumatica-activity score: A prospective cohort study. | Moreel L, Doumen M, Betrains A, De Langhe E, Blockmans D, Vanderschueren S | 2025-02-23 | Polymyalgia rheumatica – PMR – PMR-activity score | Seminars in arthritis and rheumatism |
| From rare to more common: The emerging role of omics in improving understanding and treatment of severe inflammatory and hyperinflammatory conditions. | Keskitalo S, Seppänen M, Sol AD, Varjosalo M | 2025-02-18 | Hyperinflammation, artificial intelligence, biomarker discovery, cytokine storm, genomics, inflammation, metabolomics, multiomics, omics technologies, proteomics | The Journal of allergy and clinical immunology |
| Physician's global assessment of disease activity in juvenile idiopathic arthritis: consensus-based recommendations from an international task force. | Rypdal V, Brunner HI, Feldman BM, Ruperto N, Aggarwal A, Angeles-Han ST, Backström M, Balay-Dustrude E, Bracaglia C, De Benedetti F, Doležalová P, Garrone M, Guzman J, Horton DB, Laxer RM, Lovell DJ, Løvli T, Magni-Manzoni S, Minoia F, Morgan EM, Munro J, Nordal EB, Normand C, Pan N, Patrone E, Ravelli A, Magalhães CS, Sinha R, Swart JF, Tarkiainen M, Twilt M, Vähäsalo P, Vastert S, Vojinovic J, Weiss PF, Gottlieb B, Consolaro A | 2025-02-14 | | Annals of the rheumatic diseases |
| Towards the definition of disease phenotypes in pediatric SAPHO syndrome: a national multicentric study. | Matucci-Cerinic C, Attico A, Malattia C, Consolaro A, Rosina S, Breda L, La Bella S, Cattalini M, Ricci F, Conti G, Civino A, Baldini L, Licciardi F, Insalaco A, La Torre F, Pastore S, Filocamo G, Beretta GB, Biscaro F, Miniaci A, Simonini G, Marrani E, Pistorio A, Ruperto N, Volpi S, Caorsi R, Viglizzo G, Gattorno M | 2025-02-05 | CNO, CRMO, SAPHO, acne, chronic recurrent multifocal osteomyelitis, hidradenitis suppurativa, palmo-plantar pustulosis, psoriasis, pyoderma gangrenosum | Rheumatology (Oxford, England) |
| Association between large vessel vasculitis and inflammatory bowel disease: a case-control study. | Maillet F, Nguyen Y, Espitia O, Perard L, Salvarani C, Rivière E, Ndiaye D, Durel CA, Guilpain P, Mouthon L, Kernder A, Loricera J, Cohen P, Melki I, de Moreuil C, Limal N, Mékinian A, Costedoat-Chalumeau N, Morel N, Boutemy J, Raffray L, Allain JS, Devauchelle V, Kone-Paut I, Fabre M, Durel M, Dossier A, Abad S, Visentini M, Bigot A, Yildiz H, Fain O, Samson M, Gondran G, Abitbol V, Terrier B | 2025-02-03 | Giant cell arteritis, Inflammatory bowel diseases, Large vessel vasculitis, Takayasu arteritis | Rheumatology (Oxford, England) |
| TEMPORARY REMOVAL: EULAR/ACR classification criteria for paediatric chronic nonbacterial osteomyelitis (CNO). | Zhao Y, Oliver MS, Schnabel A, Wu EY, Wang Z, Marino A, Aguiar CL, Akikusa JD, Akca UK, Almeida B, Appenzeller S, Balay-Dustrude E, Basaran O, Basiaga ML, Bilginer Y, Cabral DA, Capponi M, Donaldson N, Egeli BH, Fox EJ, Insalaco A, Iyer RS, Jansson AF, Kostik I, Kostik M, Kovalick LK, Kozu KT, Lapidus SK, Lee TC, Lenert A, Mahmood K, Marrani E, Mosad Mosa D, Muse I, Mushkin A, Nowicki KD, Nuruzzaman F, Onel K, Pardeo M, Pham TS, Potts L, Ramanan AV, Ravelli A, Rogers ND, Grim AW, Romano M, Rosenwasser N, Sato TS, Simonini G, Soep JB, Stern SM, Strauss T, Kohli AT, Theos AC, Tucker LB, Vogel LF, Yasin S, Wong SC, Bouchalova K, Hendry AM, Cain KC, Girschick HJ, Dedeoglu F, Hedrich CM, Laxer RM, Ferguson PJ, Naden R, Ozen S | 2025-01-30 | | Annals of the rheumatic diseases |
| Evaluation of Myocarditis in Patients With Still Disease: Clinical Findings From the Multicenter International AIDA Network Still Disease Registry. | Ruscitti P, Di Cola I, Vitale A, Caggiano V, Palumbo P, Di Cesare E, Torres-Ruiz J, Guaracha-Basañez GA, Martín-Nares E, Ciccia F, Iacono D, Riccio F, Maggio MC, Tharwat S, Hashad S, Rigante D, Ortolan A, Mayrink Giardini HA, de Brito Antonelli IP, Cordeiro RA, Giacomelli R, Navarini L, Berardicurti O, Conforti A, Opris-Belinski D, Sota J, Gaggiano C, Lopalco G, Iannone F, La Torre F, Mastrorilli V, Govoni M, Ruffilli F, Emmi G, Biancalana E, Sfikakis PP, Tektonidou M, Hernández-Rodríguez J, Gómez-Caverzaschi V, Gündüz ÖS, Conti G, Patroniti S, Gidaro A, Bartoli A, Olivieri AN, Gicchino MF, Brucato AL, Dagna L, Tomelleri A, Campochiaro C, De Paulis A, Mormile I, Della Casa F, Direskeneli H, Alibaz-Oner F, Karamanakos A, Dimouli A, Ragab G, Mahmoud AAA, Tufan A, Kucuk H, Kardas R, Batu ED, Ozen S, Wiesik-Szewczyk E, Hinojosa-Azaola A, Balistreri A, Fabiani C, Frediani B, Cantarini L | 2025-01-15 | | The Journal of rheumatology |
| Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature. | Bosticardo M, Dobbs K, Delmonte OM, Martins AJ, Pala F, Kawai T, Kenney H, Magro G, Rosen LB, Yamazaki Y, Yu HH, Calzoni E, Lee YN, Liu C, Stoddard J, Niemela J, Fink D, Castagnoli R, Ramba M, Cheng A, Riley D, Oikonomou V, Shaw E, Belaid B, Keles S, Al-Herz W, Cancrini C, Cifaldi C, Baris S, Sharapova S, Schuetz C, Gennery AR, Freeman AF, Somech R, Choo S, Giliani SC, Güngör T, Drozdov D, Meyts I, Moshous D, Neven B, Abraham RS, El-Marsafy A, Kanariou M, King A, Licciardi F, Cruz-Muñoz ME, Palma P, Poli C, Adeli M, Algeri M, Alroqi FJ, Bastard P, Bergerson JRE, Booth C, Brett A, Burns SO, Butte MJ, Padem N, de la Morena M, Dbaibo G, de Ravin SS, Dimitrova D, Djidjik R, Dorna MB, Dutmer CM, Elfeky R, Facchetti F, Fuleihan RL, Geha RS, Gonzalez-Granado LI, Haljasmägi L, Ale H, Hayward A, Hifanova AM, Ip W, Kaplan B, Kapoor N, Karakoc-Aydiner E, Kärner J, Keller MD, Dávila Saldaña BJ, Kiykim A, Kuijpers TW, Kuznetsova EE, Latysheva EA, Leiding JW, Locatelli F, Alva-Lozada G, McCusker C, Celmeli F, Morsheimer M, Ozen A, Parvaneh N, Pasic S, Plebani A, Preece K, Prockop S, Sakovich IS, Starkova EE, Torgerson T, Verbsky J, Walter JE, Ward B, Wisner EL, Draper D, Myint-Hpu K, Truong PM, Lionakis MS, Similuk MB, Walkiewicz MA, Klion A, Holland SM, Oguz C, Bogunovic D, Kisand K, Su HC, Tsang JS, Kuhns D, Villa A, Rosenzweig SD, Pittaluga S, Notarangelo LD | 2025-01-10 | | Science immunology |
| Finnish nationwide controlled register study found increased inpatient infections in children with 22q11.2 deletion syndrome. | Wahrmann S, Kainulainen L, Lempainen J, Kytö V | 2024-12-30 | DiGeorge syndrome, antibiotics, infection rates, morbidity, velocardiofacial syndrome | Acta paediatrica (Oslo, Norway : 1992) |
| Long-Term Safety and Effectiveness of Canakinumab in Patients with MKD/HIDS: Interim Analysis of the RELIANCE Registry. | Oommen PT, Kallinich T, Rech J, Blank N, Weber-Arden J, Kuemmerle-Deschner JB | 2024-12-26 | Autoinflammatory disease, Canakinumab, Fever syndromes, Hyperimmunoglobulin-d syndrome, Mevalonate kinase deficiency | Rheumatology and therapy |
| Performance of serum interleukin-18 (IL-18) levels for the follow-up of patients with familial Mediterranean fever. | Elhani I, Calas L, Bejar F, Pieroni L, Kone-Paut I, Rossi-Semerano L, Melki I, Bader-Meunier B, Neven B, Quartier P, Boursier G, Giurgea I, Cuisset L, Grateau G, Hentgen V, Mertz P, Delplanque M, Savey L, Georgin-Lavialle S | 2024-12-10 | Familial Mediterranean fever, biomarkers, interleukin 18 | The journal of allergy and clinical immunology. In practice |
| Iron Deficiency in Familial Mediterranean Fever: A Study on 211 Adult Patients From the JIR Cohort. | Di Cola I, Savey L, Delplanque M, Bourguiba R, Bartoli A, Aknouche Z, Bensalek F, Kone-Paut I, Rossi-Semerano L, Melki I, Bader-Meunier B, Ruscitti P, Neven B, Quartier P, Boursier G, Giurgea I, Cuisset L, Grateau G, Hentgen V, Georgin-Lavialle S | 2024-12-06 | MEFV, anemia, colchicine, familial Mediterranean fever, ferritin, iron deficiency, pyrin | American journal of hematology |
| Current landscape of monogenic autoinflammatory actinopathies: A literature review. | Mertz P, Hentgen V, Boursier G, Delon J, Georgin-Lavialle S | 2024-12-05 | | Autoimmunity reviews |
| Inborn errors of immunity reveal the molecular requirements for the generation and maintenance of human IL-9 expressing cells. | Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppänen MRJ, Béziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova JL, Tangye SG, Ma CS | 2024-11-30 | IL-9 expression, Th9 cells, cytokines, human CD4(+) T cell differentiation, inborn errors of immunity | The Journal of allergy and clinical immunology |
| Diagnostic value of minor salivary gland biopsy for Sjogren's syndrome in children: a monocentric retrospective study over 10 years. | Adeline F, Hittinger A, Bolko L, Guettier C, Kone-Paut I, Schvartz A | 2024-11-26 | Minor salivary gland biopsy, Paediatric rheumatology, Sjögren’s syndrome | Joint bone spine |
| Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress. | Iannuzzo A, Delafontaine S, El Masri R, Tacine R, Prencipe G, Nishitani-Isa M, van Wijck RTA, Bhuyan F, de Jesus Rasheed AA, Coppola S, van Daele PLA, Insalaco A, Goldbach-Mansky R, Yasumi T, Tartaglia M, Meyts I, Delon J | 2024-11-16 | | Nature communications |
| Glucocorticoids versus glucocorticoids plus cyclophosphamide in eosinophilic granulomatosis with polyangiitis with poor-prognosis factors. | Sorin B, Papo M, Sinico RA, Teixeira VS, Venhoff N, Urban ML, Iudici M, Mahrhold J, Locatelli F, Cassone G, Schiavon F, Seeliger B, Neumann T, Feder C, Kroegel C, Groh M, Marvisi C, Samson M, Barba T, Jayne D, Troilo A, Thiel J, Hellmich B, Monti S, Montecucco C, Salvarani C, Kahn JE, Bonnotte B, Durel CA, Puéchal X, Mouthon L, Guillevin L, Emmi G, Vaglio A, Porcher R, Terrier B | 2024-11-15 | ANCA-Associated vasculitides, Cyclophosphamide, Eosinophilic Granulomatosis with polyangiitis, Poor-prognosis factor | Journal of autoimmunity |
| Identification of a 5-Plex Cytokine Signature that Differentiates Patients with Multiple Systemic Inflammatory Diseases. | Hoste L, Meertens B, Ogunjimi B, Sabato V, Guerti K, van der Hilst J, Bogie J, Joos R, Claes K, Debacker V, Janssen F, Tavernier SJ, Jacques P, Callens S, Dehoorne J, Haerynck F | 2024-11-12 | Biomarkers, Cytokines, Inflammation | Inflammation |
| Characteristics of familial Mediterranean fever after 65 years of age. | Rodrigues F, Savey L, Delplanque M, Cuisset L, Georgin-Lavialle S | 2024-10-29 | | European journal of internal medicine |
| Paracetamol and ibuprofen fixed-dose combination for the management of acute mild-to-moderate pain in children: strengthening and enhancing of result of Nominal Group Technique through Delphi consensus. | Castagno E, Parri N, D'Avino A, Ferrari E, Marchisio PG, Messia V, Taglialatela M, Staiano A | 2024-10-29 | Delphi consensus, Pain management, Paracetamol/ibuprofen fixed-dose combination, Pediatrics | Italian journal of pediatrics |
| Physical (in)activity and screen-based media use of adolescents with juvenile idiopathic arthritis over time - data from a German inception cohort. | Milatz F, Pedersen MJ, Klotsche J, Liedmann I, Niewerth M, Hospach A, Horneff G, Klein A, Weller-Heinemann F, Foeldvari I, Kallinich T, Haas JP, Windschall D, Dressler F, Foell D, Kuemmerle-Deschner JB, Minden K | 2024-10-21 | Adolescents, Juvenile idiopathic arthritis, Media use, Physical activity, Screen time, Sedentary behavior | Pediatric rheumatology online journal |
| [Clinical aspects of systemic amyloidosis in 2024]. | Georgin-Lavialle S, Grateau G | 2024-10-16 | Amylose immunoglobulinique, Amylose inflammatoire, Amylose systémique, Amylose à transthyrétine mutée, Amylose à transthyrétine sauvage, Immunoglobulin amyloidosis, Inflammatory amyloidosis, Mutated transthyretin amyloidosis, Systemic amyloidosis, Wild-type transthyretin amyloidosis | Annales de pathologie |
| Long-term follow-up MR imaging in children with transverse myelitis. | El Naggar I, Cleaveland R, Panzer A, Molenaar S, Giorgi L, Wendel EM, Bertolini A, Karenfort M, Thiels C, Libá Z, Baumann M, Leiz S, Della Marina A, Hengstler JG, Deiva K, Neuteboom R, Reindl M, Rostásy K | 2024-10-11 | Acquired demyelinating syndrome, MOG, MRI, Neuroinflammation, Pediatric, Radiologic, Transverse myelitis | Multiple sclerosis and related disorders |
| EULAR/PReS recommendations for the diagnosis and management of Still's disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still's disease. | Fautrel B, Mitrovic S, De Matteis A, Bindoli S, Antón J, Belot A, Bracaglia C, Constantin T, Dagna L, Di Bartolo A, Feist E, Foell D, Gattorno M, Georgin-Lavialle S, Giacomelli R, Grom AA, Jamilloux Y, Laskari K, Lazar C, Minoia F, Nigrovic PA, Oliveira Ramos F, Ozen S, Quartier P, Ruscitti P, Sag E, Savic S, Truchetet ME, Vastert SJ, Wilhelmer TC, Wouters C, Carmona L, De Benedetti F | 2024-09-24 | Still's disease, adult-onset, arthritis, juvenile, biological therapy, inflammation, macrophage activation syndrome | Annals of the rheumatic diseases |
| Efficacy and safety of therapies for Still's disease and macrophage activation syndrome (MAS): a systematic review informing the EULAR/PReS guidelines for the management of Still's disease. | Bindoli S, De Matteis A, Mitrovic S, Fautrel B, Carmona L, De Benedetti F | 2024-09-24 | Arthritis, Juvenile, Biological Therapy, Glucocorticoids, Still's Disease, Adult-Onset, Therapeutics | Annals of the rheumatic diseases |
| Systemic juvenile idiopathic arthritis and adult-onset Still's disease are the same disease: evidence from systematic reviews and meta-analyses informing the 2023 EULAR/PReS recommendations for the diagnosis and management of Still's disease. | De Matteis A, Bindoli S, De Benedetti F, Carmona L, Fautrel B, Mitrovic S | 2024-09-24 | Arthritis, Juvenile, Macrophage Activation Syndrome, Still's Disease, Adult-Onset | Annals of the rheumatic diseases |
| Diagnostic delays in familial Mediterranean fever: a Juvenile Inflammatory Rheumatism (JIR) cohort study. | Bourguiba R, Deshayes S, Amaryan G, Kone-Paut I, Belot A, Sarkisyan T, Guedri R, Mejbri M, Melki I, Meinzer U, Dan D, Schleinitz N, Hentgen V, Georgin-Lavialle S | 2024-09-24 | MEFV, Diagnostic delay, Familial Mediterranean Fever, Women | Rheumatology international |
| A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion. | Ochoa S, Hsu AP, Oler AJ, Kumar D, Chauss D, van Hamburg JP, van Laar GG, Oikonomou V, Ganesan S, Ferré EMN, Schmitt MM, DiMaggio T, Barber P, Constantine GM, Rosen LB, Auwaerter PG, Gandhi B, Miller JL, Eisenberg R, Rubinstein A, Schussler E, Balliu E, Shashi V, Neth O, Olbrich P, Le KM, Mamia N, Laakso S, Nevalainen PI, Grönholm J, Seppänen MRJ, Boon L, Uzel G, Franco LM, Heller T, Winer KK, Ghosh R, Seifert BA, Walkiewicz M, Notarangelo LD, Zhou Q, Askentijevich I, Gahl W, Dalgard CL, Perera L, Afzali B, Tas SW, Holland SM, Lionakis MS | 2024-09-18 | | Science translational medicine |
| Recurrent ocular toxoplasmosis is associated with interferon-gamma deficiency possibly due to genetic origin. | Hautala NM, Joensuu M, Paakkola T, Glumoff V, Kettunen K, Saarela J, Siiskonen M, Chen Z, Pylkäs K, Hautala T | 2024-09-13 | Genetics, Immunology, Infection, Inflammation | BMJ open ophthalmology |
| Large vessel vasculitis is a risk factor for relapse only in giant cell arteritis patients without polymyalgia rheumatica. | Moreel L, Betrains A, Boeckxstaens L, Molenberghs G, Van Laere K, De Langhe E, Vanderschueren S, Blockmans D | 2024-08-22 | CGA, Giant cell arteritis, large vessel vasculitis | Rheumatology (Oxford, England) |
| [Autoinflammatory diseases associated with IL-18]. | Mertz P, Hentgen V, Boursier G, Elhani I, Calas L, Delon J, Georgin-Lavialle S | 2024-08-17 | Actinopathies, Auto-inflammatory disease, CDC42, Hemophagocytic lymphohistiocytosis, Interleukin 18, Interleukine 18, Maladie auto-inflammatoire, Maladie de Still, PSTPIP1, Still disease, Syndrome d’activation macrophagique, XIAP | La Revue de medecine interne |
| Uncovering the hidden socioeconomic impact of juvenile idiopathic arthritis and paving the way for other rare childhood diseases: an international, cross-disciplinary, patient-centered approach (PAVE Consortium). | Marshall DA, Gerber B, Currie GR, Antón J, De Somer L, Dey M, Egert T, Egert Y, Henan L, Klotsche J, Mifsut LM, Minden K, Normand C, Porte D, Saurenmann RK, Swart JF, Uziel Y, Wilson J, Wouters C, Ziv A, Benseler SM | 2024-08-09 | Childhood Arthritis, International collaboration, Juvenile Idiopathic Arthritis, Participatory research, Patient-centered research, Patient-partnered research, Rare disease, Socioeconomic burden | Pediatric rheumatology online journal |
| [Head-to-head studies on connective tissue diseases and vasculitides]. | Hellmich B, Mucke J, Aringer M | 2024-07-17 | ANCA-associated vasculitis, Lupus nephritis, Randomized controlled trials, Systemic lupus erythematosus, Systemic sclerosis | Zeitschrift fur Rheumatologie |
| Ultrasonographic findings in diabetic cheiroarthropathy: a pilot study. | Löffler C, Leipe J, Hellmich B | 2024-07-12 | | Scandinavian journal of rheumatology |
| Refining Treat-to-Target (T2T) strategies in Cryopyrin-Associated Periodic Syndromes (CAPS): The role of inflammatory markers. | Satirer Ö, Welzel T, Zapf B, Benseler SM, Kuemmerle-Deschner JB | 2024-07-05 | CRP, PGA, PPGA, SAA, canakinumab, cryopyrin-associated periodic syndrome, treat-to-target (T2T) | Rheumatology (Oxford, England) |
| Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation. | Hautala T, Perelygina L, Salmenniemi U, Seppänen MRJ | 2024-07-04 | Granulomatous inflammation, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes, Inborn Errors in Immunity, Rubella virus | Journal of clinical immunology |
| Could tocilizumab be used in familial Mediterranean Fever? A systematic review. | Mertz P, Hentgen V, Georgin-Lavialle S | 2024-07-01 | AA amyloidosis, Familial mediterranean fever, colchicine resistance, tocilizumab | Rheumatology (Oxford, England) |
| Polymyalgia rheumatica is a risk factor for more recalcitrant disease in giant cell arteritis: A retrospective cohort study. | Moreel L, Betrains A, Boeckxstaens L, Molenberghs G, Van Laere K, De Langhe E, Vanderschueren S, Blockmans D | 2024-06-28 | Giant cell arteritis – GCA, Polymyalgia rheumatica – PMR | Seminars in arthritis and rheumatism |
| The outcomes of children born to mothers with autoimmune rheumatic diseases. | Andreoli L, Andersen J, Avcin T, Chambers CD, Fazzi EM, Marlow N, Wulffraat NM, Tincani A | 2024-06-11 | | The Lancet. Rheumatology |
| An Immature NK Cell Compartment in Functional DBF4 Deficiency. | Willemsen M, De Visscher A, Filtjens J, Meyts I, Matthys P, Humblet-Baron S, Liston A | 2024-06-08 | | Journal of clinical immunology |
| XMEN disease caused by the novel MAGT1 p.(Trp136*) mutation may present with neuropsychiatric symptoms. | Villenheimo H, Glumoff V, Räsänen S, Jartti A, Rusanen H, Åström P, Kuismin O, Hautala T | 2024-06-05 | Genetics, Inborn error in immunity, Rare diseases | Journal of neuroimmunology |
| Clinical efficacy of SARS-CoV-2 Omicron-neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency. | Karbiener M, Kindle G, Meyts I, Seppänen MRJ, Candotti F, Kamieniak M, Ilk R, Kreil TR, Seidel MG | 2024-06-01 | COVID‐19, SARS‐CoV‐2, agammaglobulinemia, intravenous immunoglobulin, neutralizing antibodies, primary immunodeficiency | Journal of medical virology |
| 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 D | 2024-05-17 | GCA, Giant cell arteritis, relapse | Rheumatology (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 C | 2024-05-06 | Granulomatous, Idiopathic, Paediatric, Sarcoidosis, Uveitis | Rheumatology (Oxford, England) |
| Prevalence and outcome of occult giant cell arteritis. | Moreel L, Betrains A, De Langhe E, Blockmans D, Vanderschueren S | 2024-04-29 | GCA, Occult giant cell arteritis | European 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 G | 2024-04-23 | Behçet syndrome, Child, Thrombosis | Seminars 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 AP | 2024-04-11 | | Blood |
| 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 K | 2024-04-10 | Adolescents, Anxiety, Depression, Internalizing symptoms, Juvenile idiopathic arthritis, Mental health, Screening | Arthritis 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 T | 2024-04-09 | | Neurology |
| 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 F | 2024-03-29 | Autoinflammatory conditions, Biologic therapies, Juvenile idiopathic arthritis, Paediatric/juvenile rheumatology, Pharmacology, clinical trial, interleukin-6, long-term extension, pharmacovigilance, tocilizumab | Rheumatology (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 D | 2024-03-28 | PMR, Polymyalgia rheumatica, subclinical vasculitis | Rheumatology (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 D | 2024-03-07 | | Joint bone spine |
| [Should patients with ANCA-associated vasculitis undergoing maintenance therapy with rituximab receive cotrimoxazole prophylaxis?]. | Mahrhofer H | 2024-03-01 | | Zeitschrift 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 C | 2024-03-01 | Adverse events, Biosimilars, Drug retention rate, Pediatric uveitis, Steroid-sparing effect, Tumor necrosis factor (TNF)-inhibitors | Ophthalmology 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 SG | 2024-02-16 | AICDA, HIGM2, Human B cells, Ig class switching, Somatic hypermutation | Journal of clinical immunology |
| [Management of ANCA-associated vasculitides]. | Löffler C, Hellmich B | 2024-02-01 | Cyclophosphamide, Eosinophilic granulomatosis with polyangiitis, Granulomatosis with polyangiitis, Microscopic polyangiitis, Rituximab | Innere 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 C | 2024-01-18 | Children, Genetic, Monogenic, Noonan syndrome, RAS/MAPK, SHOC2, Systemic lupus erythematosus, Zebra bodies | Pediatric 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 K | 2024-01-01 | PET, aneurysm, aorta, giant cell arteritis (GCA), vasculitis | Frontiers 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 L | 2024-01-01 | | Internal 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 MA | 2024-01-01 | ANCA vasculitis, Maintenance therapy, rituximab, Off therapy, Relapse, Stopping therapy | Autoimmunity reviews |
| Fever management in children and insights into fever of unknown origin: a survey among Italian pediatricians. | Chiappini E, Orlandi M, Chiarugi A, Di Mauro A, Insalaco A, Milani GP, Vallini M, Lo Vecchio A | 2024-01-01 | children, fever, fever of unknown origin, ibuprofen, paracetamol | Frontiers in pediatrics |
| 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 S | 2023-12-01 | Adult-onset Still's disease, Atypical hemolytic uremic syndrome, Autoinflammation, Macrophage activation syndrome | Clinical 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 L | 2023-11-01 | Arthritis, Arthritis, Juvenile, Still's Disease, Adult-Onset | RMD 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 L | 2023-11-01 | Arthritis, Autoinflammatory diseases, Diagnosis, MAS, Prognosis | Internal 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 C | 2023-11-01 | | Clinical 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 I | 2023-11-01 | | Journal 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 D | 2023-10-01 | | Annals 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 Y | 2023-10-01 | chronic nonbacterial osteomyelitis, chronic recurrent multifocal osteomyelitis, clinical disease activity score, comparative effectiveness research, consensus treatment plans | The 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 X | 2023-09-01 | | Journal 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 S | 2023-09-01 | Continuous, Episodic, Fuo, Iuo, Pattern, Recurrent | European 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 G | 2023-09-01 | Adalimumab, Etanercept, Golimumab, Psoriasis, Tocilizumab | Rheumatology international |
| Negative 18F-FDG-PET imaging in fever and inflammation of unknown origin: now what? | Betrains A, Moreel L, Wright WF, Blockmans D, Vanderschueren S | 2023-09-01 | 18F-FDG-PET, FUO, IUO | Internal and emergency medicine |
| Glimpses into treating GLILD. | Martelius T, Seppänen MRJ | 2023-08-01 | Interstitial lung disease, common variable, glucocorticoids, granulomatous-lymphocytic interstial lung disease, immunodeficiency, immunomodulatory therapy, inborn errors of immunity, primary immunodeficiencies | The 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 HM | 2023-08-01 | Cold urticaria, Factor XII-associated cold autoinflammatory syndrome, Familial cold autoinflammatory syndrome, NLRP3, PLCG2 | The 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 C | 2023-08-01 | Anti-TNF, Autoinflammatory diseases, Clinical management, Ocular involvement, Personalized medicine, Rare diseases | Ophthalmology 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 L | 2023-07-01 | | The 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 D | 2023-07-01 | Diagnostic accuracy, GCA, Giant cell arteritis, MRI, PET/CT, Ultrasound | Autoimmunity 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 S | 2023-07-01 | PMR, Polymyalgia rheumatica, Rheumatoid arthritis | Joint bone spine |
| The hallux patch: A new cutaneous sign of anti-MDA5-positive dermatomyositis? | Vulsteke JB, De Langhe E, De Haes P | 2023-04-05 | | Journal 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 S | 2023-04-01 | | European 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 X | 2023-02-01 | Autoantibodies, Mass spectrometry, Systemic sclerosis, Telomerase, Telomere | Journal 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 A | 2023-02-01 | DNA replication, developmental delay, inborn errors of immunity, leukocytes, mutation, perturbed growth, primary immunodeficiency | The 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 E | 2023-01-01 | cytokine storm, hemophagocytic lymphohistiocytosis, lymphocyte activation, macrophage activation syndrome, monocyte HLA-DR | Frontiers 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 D | 2023-01-01 | GCA, Giant cell arteritis, Relapse | Joint 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 S | 2022-12-01 | FUO, Fever of unknown origin, IUO, Inflammation of unknown origin, Time to diagnosis | European 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 L | 2022-10-01 | Autoinflammatory diseases, Behçet’s disease, International registry, Precision medicine, Rare diseases, Uveitis | Internal 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 I | 2022-10-01 | | Journal 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 SM | 2022-08-13 | AID, Dose-concentration-response relationship, Personalized treatment, Pharmacodynamics, Pharmacokinetics, Treat to target, bDMARDs | Pediatric 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 F | 2022-07-06 | | Rheumatology (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 S | 2022-05-01 | COVID-19, autoimmune diseases, biological therapy, familial Mediterranean fever | RMD 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 M | 2022-04-11 | canakinumab, clinically inactive disease, systemic juvenile idiopathic arthritis | Rheumatology (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 D | 2022-01-01 | Leuven/Groningen score, PET, diagnostic accuracy, leuven score, polymyalgia rheumatica (PMR), validation | Frontiers 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 A | 2022-01-01 | immunosuppression, infection risk, vaccination, vaccination adherence, vaccination recommendations | Frontiers 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 I | 2022-01-01 | DADA2, HCT, bone marrow failure, deficiency of adenosine deaminase 2, hematopoietic cell transplantation, immune dysregulation, immunodeficiency, inborn error of immunity | Frontiers 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 I | 2021-10-01 | Autoinflammation, Bone marrow failure, DADA2, Deficiency of adenosine deaminase 2, Hematopoietic cell transplantation, Immunodeficiency, Inborn error of immunity | Journal 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 C | 2021-09-16 | IL-6, JSLE (Juvenile-onset Systemic Lupus Erythematosus) - Pleural effusion, Tocilizumab | Pediatric 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 A | 2021-08-14 | CROMRIS, Children, Chronic nonbacterial osteomyelitis, Disease activity, PGA, Whole body magnetic resonance imaging | Pediatric 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 JC | 2021-06-01 | Angiotensin-converting enzyme II, COVID19, Granulomatous disease, Mucosal associated invariant T cells, Sarcoidosis | Autoimmunity 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 B | 2021-01-01 | Autoimmunity, KRAS, NRAS, Ras-associated autoimmune leukoproliferative disorder, malignancy | Journal 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 A | 2020-11-01 | SEC61A1, Severe congenital neutropenia, endoplasmic reticulum stress, unfolded protein response, whole exome sequencing | The 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 E | 2020-09-01 | Behçet's disease, Thrombosis, Vascular liver disease | Clinics and research in hepatology and gastroenterology |
| Polyendocrine autoimmune syndromes reveal mechanisms of tolerance and autoimmunity. | Pujol-Borrell R, Colobran Oriol R | 2020-06-12 | | Medicina 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 P | 2020-05-01 | Primary immunodeficiencies, adolescence, children, fatigue, health-related quality of life | Journal 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 MJ | 2020-05-01 | | Neurology(R) neuroimmunology & neuroinflammation |
| Recent advances in primary immunodeficiency: from molecular diagnosis to treatment. | Bucciol G, Meyts I | 2020-01-01 | hematopoietic stem cell transplantation, inborn error of immunity, next generation sequencing, primary immunodeficiency, targeted therapy | F1000Research |
