Original Article
Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition
N Engl J Med 2006; 355:581-592August 10, 2006
- Abstract
Background
Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation.
Methods
We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1–receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). In 11 patients, anakinra was withdrawn at three months until a flare occurred. The primary end points included changes in scores in a daily diary of symptoms, serum levels of amyloid A and C-reactive protein, and the erythrocyte sedimentation rate from baseline to month 3 and from month 3 until a disease flare.
Results
All 18 patients had a rapid response to anakinra, with disappearance of rash. Diary scores improved (P<0.001) and serum amyloid A (from a median of 174 mg to 8 mg per liter), C-reactive protein (from a median of 5.29 mg to 0.34 mg per deciliter), and the erythrocyte sedimentation rate decreased at month 3 (all P<0.001), and remained low at month 6. Magnetic resonance imaging showed improvement in cochlear and leptomeningeal lesions as compared with baseline. Withdrawal of anakinra uniformly resulted in relapse within days; retreatment led to rapid improvement. There were no drug-related serious adverse events.
Conclusions
Daily injections of anakinra markedly improved clinical and laboratory manifestations in patients with neonatal-onset multisystem inflammatory disease, with or without CIAS1 mutations. (ClinicalTrials.gov number, NCT00069329.)
Media in This Article
Figure 1
Inflammatory Organ Manifestations in Neonatal-Onset Multisystem Inflammatory Disease before (Panels A, C, E, and G) and after (Panels B, D, F, and H) Treatment with Anakinra.Figure 2
Mean (±SE) Serologic and Cellular Responses to Treatment.Article Activity
- Article
Neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic cutaneous articular (CINCA) syndrome, is a rare chronic inflammatory disease.1,2 An urticaria-like rash develops within the first six weeks of life, and a characteristic bony overgrowth predominantly involving the knees develops in most affected children. Central nervous system (CNS) manifestations include chronic aseptic meningitis, increased intracranial pressure, cerebral atrophy, ventriculomegaly, and chronic papilledema, with associated optic-nerve atrophy and loss of vision, mental retardation, seizures, and sensorineural hearing loss. Other manifestations include short stature, hepatosplenomegaly, leukocytosis, and an elevation in serum levels of amyloid A and C-reactive protein and in the erythrocyte sedimentation rate. Therapies are aimed at suppressing inflammation and have included high-dose corticosteroids, disease-modifying antirheumatic drugs, and biologic agents targeting tumor necrosis factor (TNF). Although these medications are moderately effective, inflammation persists in most children, and a 20 percent mortality rate has been reported before adulthood.3
The discovery of the genetic basis of neonatal-onset multisystem inflammatory disease4,5 has led to the inclusion of this syndrome in a group of hereditary systemic autoinflammatory disorders.6 Mutations in the gene for the cold-induced autoinflammatory syndrome 1 (CIAS1), mostly newly occurring ones, are present in about 60 percent of children who receive a clinical diagnosis of the disease. Patients with and those without CIAS1 mutations have similar disease phenotypes.5 CIAS1 mutations were initially identified in two phenotypically milder familial syndromes,7 familial cold autoinflammatory syndrome2 and the Muckle–Wells syndrome.2 Both disorders are characterized by episodes of urticarial rash and systemic inflammation but not bony overgrowth, chronic meningitis, or mental retardation.
CIAS1 encodes cryopyrin (also known as NALP3),8 which belongs to a group of interacting proteins that form a macromolecular complex termed the “inflammasome.”8 Inflammasome assembly leads to the activation of caspase 1, which cleaves pro–interleukin-1β into its bioactive form (Figure 1 in the Supplementary Appendix, available with the full text of this article at www.nejm.org). There is conflicting evidence as to whether cryopyrin activates nuclear factor-κB (NF-κB), another mediator of inflammation.9-15 Selective blockade of interleukin-1β permits a stringent in vivo test of the relative contributions of interleukin-1β–dependent pathways and interleukin-1β–independent pathways in the pathophysiology and organ-specific manifestations of neonatal-onset multisystem inflammatory disease, in particular the CNS manifestations of the disease.
Isolated case reports have suggested that as an interleukin-1–receptor antagonist, anakinra may be effective in the treatment of rash and the constitutional symptoms of neonatal-onset multisystem inflammatory disease.16-18 We systematically assessed the effect of anakinra on a broader range of disease manifestations, including ones that affect the CNS, in a cohort of patients with neonatal-onset multisystem inflammatory disease who were seen at one center.
Methods
Patients
We selected patients between the ages of 4 and 32 years who presented with at least two of the following clinical manifestations: urticarial rash, CNS involvement (e.g., papilledema, pleocytosis in the cerebrospinal fluid, and sensorineural hearing loss), or epiphyseal or patellar overgrowth on radiography. All patients had active disease despite treatment with nonsteroidal antiinflammatory drugs and disease-modifying antirheumatic drugs or corticosteroids. Two patients who were receiving etanercept completed a 21-day washout period before beginning treatment with anakinra.
Study Design and Treatment
The study protocol was approved by the institutional review board at the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute of Diabetes and Digestive and Kidney Diseases. All patients or their parents or legal guardians provided written informed consent. Between September 2003 and July 2004, 20 patients were screened. Of those patients, 18 from 16 referring sites were enrolled (the 2 patients who were excluded had neither CNS involvement nor bone disease). Anakinra (Kineret, Amgen), which was procured commercially by the National Institutes of Health (NIH) Clinical Center Pharmacy, was started at a dose of 1 mg per kilogram of body weight per day by subcutaneous injection and was increased to a maximum of 2 mg per kilogram per day if clinical disease persisted or laboratory measures remained abnormal. Efficacy assessments were made at the NIH at one, three, and six months. At three months, patients who had a response to treatment underwent an inpatient withdrawal period until they fulfilled predefined criteria for a clinical flare (defined as at least two of the following criteria: an increase in the rash score for four days, a temperature >37°C [98.6°F] on four or more occasions, vomiting or headache for three days, or a worsening of any neurosensory symptom) or for a maximum of seven days.
If a flare of the disease occurred, anakinra therapy was resumed, and patients entered the ongoing extension period of the study (up to 24 months). Because of the severity of the flares — which included pericarditis in 1 patient, corneal infiltrates in 3 patients, and uveitis in 2 patients — and the significance of the study findings in the first 11 patients, the NIH bioethics committee recommended the discontinuation of the withdrawal phase.
Primary End Points
The primary end points included a change in a disease-specific daily diary score, changes in the acute-phase reactants (serum amyloid A, C-reactive protein, and the erythrocyte sedimentation rate) from baseline to three months and from three months until a flare in the disease occurred. The diary included daily reports of fever, rash, headache, joint pain, and vomiting, which were rated on a scale of 0 to 4 for increasing severity of each of the five symptoms (possible range, 0 to 20). Diary data were collected for three consecutive weeks, and serum levels of amyloid A and C-reactive protein and the erythrocyte sedimentation rate were measured on two to four occasions before anakinra treatment was started. The level of C-reactive protein and the erythrocyte sedimentation rate were determined at the NIH; the level of serum amyloid A was measured as previously reported.19
Secondary End Points
Childhood health assessment questionnaires, audiography, and vision evaluations were performed at baseline and at follow-up at one, three, and six months. All patients underwent a lumbar puncture at baseline and at three months. Magnetic resonance imaging (MRI) of the brain with gadolinium-enhanced fluid-attenuated inversion recovery (FLAIR) sequences of the inner ear and fast imaging employing steady-state acquisition (FIESTA) (involving 15 patients) and an MRI of the worse knee were performed at baseline and at three months. Among 17 English-speaking patients, cognitive function was assessed with the use of the following age-appropriate standardized tests: the Wechsler Preschool and Primary Scale of Intelligence — Third Edition (administered to 4 patients), the Wechsler Intelligence Scale for Children — Fourth Edition (to 8 patients), the Wechsler Adult Intelligence Scale — Third Edition (to 3 patients), and the Vineland Adaptive Behavior Scales — Interview Edition (to 2 patients).
Other end points included an analysis of drug safety; remission of inflammation (defined by a serum amyloid A level below 10 mg per liter, a C-reactive protein level below 0.5 mg per deciliter, an erythrocyte sedimentation rate below 20 mm per hour, and a daily diary score below 0.5); changes in brain MRI, as read by one radiologist who was unaware of patients' treatment assignments; corticosteroid dose; and changes in the levels of proinflammatory and antiinflammatory cytokines (including endogenous interleukin-1–receptor antagonist [interleukin-1Ra] and recombinant interleukin-1–receptor antagonist [anakinra]) in serum and cerebrospinal fluid, chemokines and endothelial markers (Pierce Biotechnology), and the pharmacokinetic profile. Spontaneous and stimulated secretions of interleukin-1β were measured in culture supernatants from peripheral-blood mononuclear cells cultured for 24 hours in the presence and absence of lipopolysaccharide (2 μg per milliliter). Transcriptional analysis was performed from whole-blood samples as previously described.20 Control blood samples were obtained from 25 anonymous healthy donors and from 10 of the patients' parents, all with consent for this purpose.
Statistical Analysis
The study was designed to have a statistical power of 80 percent with the use of a two-sided test, with a level of significance of 0.05, to detect a mean difference in diary scores before and after treatment equal in magnitude to the standard deviations of the differences. Differences were tested with the use of two-sided tests, the Wilcoxon signed-rank test, or the Wilcoxon rank-sum test, for nonparametric data at a significance level of 0.05.
Results
All 18 patients had active disease, as indicated by the diary scores and the results of the clinical and laboratory examination; 12 (67 percent) had mutations in exon 3 of CIAS1. Acute-phase reactants were elevated at baseline despite treatment with immunomodulatory medications and corticosteroids (Table 1Table 1
Baseline Demographic and Clinical Characteristics of the 18 Patients. and Table 2Table 2
Measures of Disease Activity and Improvement from Baseline.). All enrolled patients had clinical CNS disease. Of the patients with a nontraumatic lumbar puncture, the majority had increased intracranial pressure and pleocytosis (a white-cell count above 6 cells per cubic millimeter). Other clinical findings included urticarial rash, papilledema, conjunctivitis, uveitis, hearing loss, and bony overgrowth (Figure 1A and 1CFigure 1Inflammatory Organ Manifestations in Neonatal-Onset Multisystem Inflammatory Disease before (Panels A, C, E, and G) and after (Panels B, D, F, and H) Treatment with Anakinra., and Figure 2 of the Supplementary Appendix). Most patients had heights below the third percentile (Table 1).Unenhanced MRI scans showed ventriculomegaly in eight patients and mild-to-moderate cerebral atrophy in three patients. Two patients had ventriculoperitoneal shunts. High-resolution FIESTA images showed arachnoid adhesions (Figure 2E in the Supplementary Appendix). FLAIR sequences performed after the administration of contrast material were used to visualize potential inflammatory CNS lesions. Leptomeningeal enhancement was detected in 8 patients, and abnormal cochlear enhancement was detected in 17 patients (Table 1 and Figure 1E and 1G). Patients with leptomeningeal or dural enhancement had significantly lower IQ levels than did patients without enhancement (median values of 66 and 89, respectively; P=0.03), and median protein levels in the cerebrospinal fluid were 52 mg per deciliter and 34 mg per deciliter, respectively (P=0.07).
Effects of Anakinra
All 18 patients had an immediate clinical response to anakinra. Rash and conjunctivitis disappeared within three days in all cases (Figure 1A, 1B, 1C, and 1D). The diary scores significantly decreased at three months. Levels of serum amyloid A and C-reactive protein and the erythrocyte sedimentation rate all fell significantly with treatment in all patients (Table 2).
After three months of treatment, 11 patients underwent an inpatient withdrawal period for a maximum of seven days. All but one patient fulfilled prespecified criteria for a flare of disease. The one patient who did not fulfill the criteria had six days of rash, one episode of fever, and three days of joint pain and conjunctivitis. The median time until a flare of the disease occurred was 5 days (range, 2.5 to 7) (Figure 3 of the Supplementary Appendix). Patients had a response promptly after resuming anakinra, and improvements were sustained at the six-month follow-up evaluation (Table 2).
At six months, six patients (33 percent) showed improved hearing on audiography, and nine patients (50 percent) had stable hearing, relative to baseline (Table 1 and Figure 4 of the Supplementary Appendix). The hearing of one patient improved at high frequencies and deteriorated at low frequencies. Vision remained stable in all patients, and pain, global assessments by parents and physicians, and scores on the Childhood Health Assessment Questionnaire improved significantly (Table 2). The median dose of prednisone was significantly lower at three and six months than at baseline (Table 2). Remission of inflammatory symptoms occurred in 8 of 18 patients (44 percent) at three months and in 10 of 18 patients (56 percent) at six months.
CNS Response to Treatment
All patients had headache at baseline. During therapy, median daily headache scores (rated from 0 to 4 for increasing severity) decreased from 0.5 to 0.1 (P<0.001). In eight patients, headache completely resolved at three months. In 12 patients for whom cerebrospinal fluid could be evaluated, intracranial pressures, protein levels, and white-cell counts also decreased significantly (Table 2). In the cerebrospinal fluid, white-cell counts correlated with interleukin-6 levels (correlation coefficient, 0.63; P=0.006). Headache recurred or worsened promptly in all patients during the flare period, with a median headache score of 0.8 (P=0.007 for the comparison with the score at three months after the initiation of treatment). Of the 17 patients with cochlear enhancement on initial MRI (Figure 1G), 13 showed a decrease in or disappearance of cochlear enhancement (Fig 1H), 1 had an increased level, and 3 remained unchanged after three months of therapy. In addition, leptomeningeal enhancement, which was present in eight patients before drug treatment, improved in all patients at three months (Figure 1E and 1F).
Changes in Cytokines with Treatment
Levels of interleukin-6 in serum and cerebrospinal fluid decreased with treatment and again increased in the serum when the drug was withheld (Table 3Table 3
Mean Cytokine and Chemokine Levels at Baseline, at Three Months, and during a Disease Flare.). TNF, E-selectin (a marker of endothelial activation), and the chemokine stromal-cell–derived factor 1 (SDF-1) also decreased with therapy. Levels of anakinra in the cerebrospinal fluid increased during therapy (P<0.001), suggesting drug penetration into the cerebrospinal fluid (Table 3).The patients' cultured peripheral-blood mononuclear cells spontaneously secreted high levels of interleukin-1β, as compared with barely detectable levels in healthy controls, and had an exaggerated interleukin-1β response to lipopolysaccharide stimulation. Spontaneous and stimulated secretions of interleukin-1β decreased progressively with up to six months of therapy (Figure 2AFigure 2
Mean (±SE) Serologic and Cellular Responses to Treatment.). Before treatment, transcript levels of several genes encoding proteins regulated by interleukin-1β were significantly increased, as compared with controls, whereas transcript levels of the mutant CIAS1 and levels of TNF and interleukin-18 were not increased (Figure 2B). Anakinra decreased the expression of interleukin-1β and genes downstream of interleukin-1β, whereas such expression increased during anakinra withdrawal (Figure 2C).There were no significant differences between patients with CIAS1 mutations and those without CIAS1 mutations in baseline clinical manifestations or response to anakinra. However, this study was not powered to detect such differences.
Safety and Tolerability
None of the patients discontinued drug treatment. A localized, erythematous, and sometimes painful skin reaction at the injection site developed in eight patients (44 percent) and had disappeared in all patients at six weeks. Adverse events during treatment included upper respiratory infections (in 15 patients), urinary tract infections (in 2), and a hospital admission for dehydration from nonbacterial diarrhea (in 1).
Discussion
We found that anakinra, an interleukin-1 antagonist, significantly decreased the major organ manifestations in patients with neonatal-onset multisystem inflammatory disease. Rash and measures of inflammation rapidly improved with treatment, worsened with drug withdrawal, and promptly responded to the reinitiation of therapy. Elevations in intracranial pressure and in cerebrospinal fluid protein also decreased with therapy, and hearing improved or stabilized in most patients. These findings suggest that peripheral, as well as CNS, manifestations of this disease are driven by interleukin-1β and will benefit from the systemic administration of anakinra. These data define the clinical and molecular phenotype of neonatal-onset multisystem inflammatory disease as induced by interleukin-1β excess.
The identification of CIAS1 mutations in neonatal-onset multisystem inflammatory disease, familial cold autoinflammatory syndrome, and the Muckle–Wells syndrome has led to the notions that these diseases are part of a disease spectrum, with familial cold autoinflammatory syndrome at the mildest end of the symptom spectrum and neonatal-onset multisystem inflammatory disease at the most severe end. Factors determining the phenotype of the disease include the type of mutation and the patient's genetic background.21 Previous isolated case reports in patients with the range of CIAS1-associated diseases16-18,22,23 described responses of constitutional symptoms, urticarial rash, and acute-phase reactants to anakinra, but a systematic analysis of the effect of anakinra on CNS manifestations, hearing and vision loss, or joint disease has been lacking.
Given the rarity of neonatal-onset multisystem inflammatory disease, limitations of our study necessarily include its small size and the lack of a randomized, placebo-controlled design, and a follow-up of six months. Nevertheless, the magnitude of the clinical responses that were observed, the incorporation of an inpatient withdrawal phase to induce a disease flare, and the detailed analysis of organ-specific disease manifestations (including blinded evaluation of MRI studies) provide evidence of important clinical benefits derived from interleukin-1 blockade in this condition.
We used highly sensitive MRI sequences to identify enhancing CNS lesions in the leptomeninges, dura, and cochlea in a majority of patients. This breakdown of the blood–brain barrier in the enhanced areas is presumably caused by leakage of inflamed microvessels.24,25 The decrease in enhancement with anakinra therapy suggests that these CNS lesions were mediated by interleukin-1β–induced inflammation. Arachnoid adhesions were most likely sequelae of the chronic meningitis that occurs in this disorder26 and may have contributed to the development of increased intracranial pressure, a known complication of chronic meningitis.27 These imaging techniques may be useful in the identification of CNS disease and response to therapy in such patients.
The injection of interleukin-1β into the peripheral circulation causes fever28 and generalized constitutional influenza-like symptoms. This process seems to be dependent on interleukin-6, since fever does not develop in mice that are deficient in interleukin-6,29 despite the fact that interleukin-1β–induced expression of cyclooxygenase-2 and the production of prostaglandin E2 are intact.30 Our patients had interleukin-6 levels in the CNS that were higher than those in the serum by a factor of 7 to 8, suggesting that interleukin-6 is produced locally, as has been described in other CNS diseases.31 Although peripherally produced interleukin-1β may penetrate the CNS, it is possible that interleukin-1β is also produced locally. Interleukin-1β levels in cerebrospinal fluid are undetectable, which is probably secondary to the binding of interleukin-1β to proteins and the soluble interleukin-1 receptor.32 Since low levels of cryopyrin are expressed in the brain,33 an inflammasome could be assembled locally, either in infiltrating inflammatory cells or in CNS cells capable of producing interleukin-1β, such as glial cells.34,35 The striking predilection for cochlear inflammation in neonatal-onset multisystem inflammatory disease could be caused by increased permeability of the blood–brain barrier but also could result from local interleukin-1β production.
Several ophthalmologic symptoms of neonatal-onset multisystem inflammatory disease, including conjunctivitis, uveitis, and corneal infiltrates, rapidly responded to treatment with anakinra. Although no new or progressive loss of peripheral vision was observed during six months of treatment further follow-up is needed to assess the long-term effects of this medication on these and other disease manifestations.
Given the efficacy with which anakinra reduced serum amyloid A levels, study is warranted of whether over the long term, this therapy may prevent systemic amyloidosis, which is reported to occur in as many as 25 percent of patients. Investigation of the use of very early treatment with anakinra before bone lesions develop may help distinguish whether the arthropathy in neonatal-onset multisystem inflammatory disease is driven by interleukin-1β or whether cryopyrin expression in chondrocytes causes impaired apoptosis at the sites of enchondral ossification, as has been suggested.4 In addition, although our study was not powered to detect differences between patients with CIAS1 mutation and patients without such a mutation, the similarity of the underlying disease and therapeutic response to anakinra in the two groups suggests that there may be other disease-associated lesions in the interleukin-1 signaling pathway.
In summary, our study demonstrates that six months of treatment with the interleukin-1β inhibitor anakinra appeared to be safe and highly effective in patients with neonatal-onset multisystem inflammatory disease, including those with neurologic manifestations, who had had incomplete responses to systemic corticosteroids and TNF blockade. Further study is warranted to assess the long-term effects of this treatment in neonatal-onset multisystem inflammatory disease, as well as its role in the treatment of other diseases in which inherited or acquired molecular lesions in interleukin-1 signaling drive inflammation.36
Supported by the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases at the NIH.
Dr. Stein reports having received consulting and lectures fees from Amgen and Genentech and research support from Amgen and Abbott; Dr. Moore, lecture fees from Amgen; Dr. Vehe, lecture fees from Amgen and research support from Abbott; and Dr. Cole, consulting fees from Abbott and lecture fees from Amgen. Amgen produces and distributes the medication evaluated in this study. No other potential conflict of interest relevant to this article was reported.
We are indebted to all the patients with neonatal-onset multisystem inflammatory disease who participated in the study and to their families, whose continuous support and enthusiasm made this research possible.
Source Information
From the National Institute of Arthritis and Musculoskeletal and Skin Diseases (R.G.-M., N.J.D., S.W.C., A.G., J.J., I.A., T.H.P., C.S., D.L.K.), National Eye Institute (B.I.R.), National Institute on Deafness and Other Communication Disorders (H.J.K., C.B., C.Z.), National Institute of Neurological Disorders and Stroke (E.W., B.I.K.), Clinical Center (S.H., F.P., S.R.P., S.M.P., R.A.W., J.A.B.), National Cancer Institute (M.L.T.) National Institute of Allergy and Infectious Disease (M.H.H., S.M.H.), and National Institute of Diabetes and Digestive and Kidney Diseases (S.C.H.), National Institutes of Health, Bethesda, Md.; University of North Carolina, Chapel Hill (L.S.); University of Michigan, Ann Arbor (B.S.A.); Saint Louis University, St. Louis (T.L.M.); Children's Hospital, Boston (R.C.F.); Children's Hospital, Los Angeles (B.S.); University of Oklahoma College, Oklahoma City (J.N.J., K.O.); University of Minnesota, Minneapolis (R.K.V.); Children's Hospital and Regional Medical Center, Seattle (L.O.B.); University of Washington Bone and Joint Center, Seattle (G.G.); State University of New York Hospital, Syracuse (W.P.H.); Texas Children's Hospital Baylor College of Medicine, Houston (R.W.W.); Watauga Medical Center, Boone, N.C. (W.H.); Adult and Pediatric Rheumatology, San Antonio, Tex. (J.L.C.); and Royal Free University College Medical School, London (P.N.H.).
Address reprint requests to Dr. Goldbach-Mansky at NIAMS, Bldg. 10, Rm. 9S-205, 10 Center Dr., Bethesda, MD 20892, or at goldbacr@mail.nih.gov.
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- Citing Articles (207)
Citing Articles
1
Shabina Habibi, Athimalaipet V Ramanan. (2012) Review of biologics in children with rheumatic diseases. International Journal of Clinical Rheumatology 7:1, 81-93
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C. Kebaier, R. R. Chamberland, I. C. Allen, X. Gao, P. M. Broglie, J. D. Hall, C. Jania, C. M. Doerschuk, S. L. Tilley, J. A. Duncan. (2012) Staphylococcus aureus -Hemolysin Mediates Virulence in a Murine Model of Severe Pneumonia Through Activation of the NLRP3 Inflammasome. Journal of Infectious Diseases
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Raquel Cuchacovich, Ignacio Garcia-Valladares, Luis R Espinoza. (2011) Pleiotropic effects of inflammasome modulation in chronic gout and associated comorbidities: potential therapeutic implications. International Journal of Clinical Rheumatology 6:6, 669-676
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Linda Rossi-Semerano, Isabelle Koné-Paut. (2011) Focus sur les inhibiteurs de l’interleukine 1. Revue du Rhumatisme Monographies
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C. M. Hedrich, N. Bruck, B. Fiebig, M. Gahr. (2011) Anakinra: A safe and effective first-line treatment in systemic onset juvenile idiopathic arthritis (SoJIA). Rheumatology International
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Naoko Tanaka, Kazushi Izawa, Megumu K. Saito, Mio Sakuma, Koichi Oshima, Osamu Ohara, Ryuta Nishikomori, Takeshi Morimoto, Naotomo Kambe, Raphaela Goldbach-Mansky, Ivona Aksentijevich, Geneviève de Saint Basile, Bénédicte Neven, Mariëlle van Gijn, Joost Frenkel, Juan I. Aróstegui, Jordi Yagüe, Rosa Merino, Mercedes Ibañez, Alessandra Pontillo, Hidetoshi Takada, Tomoyuki Imagawa, Tomoki Kawai, Takahiro Yasumi, Tatsutoshi Nakahata, Toshio Heike. (2011) High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study. Arthritis & Rheumatism 63:11, 3625-3632
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S.A. Poojary. (2011) Vitiligo and associated autoimmune disorders: A retrospective hospital-based study in Mumbai, India. Allergologia et Immunopathologia 39:6, 356-361
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Aarat M. Patel, Kathryn S. Torok. (2011) Canakinumab for the treatment of adult and pediatric cryopyrin-associated periodic syndromes (CAPS). Drug Development Research 72:7, 553-560
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Raphaela Goldbach-Mansky. (2011) Update on Monogenic Autoinflammatory diseases: The role of IL-1 and an emerging role for cytokines beyond IL-1 …. Clinical & Experimental Immunologyno-no
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John I Gallin. (2011) The NIH Clinical Center and the future of clinical research. Nature Medicine 17:10, 1221-1223
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Luca Cantarini, Donato Rigante, Maria Giuseppina Brizi, Orso Maria Lucherini, Gian Domenico Sebastiani, Antonio Vitale, Valentina Gianneramo, Mauro Galeazzi. (2011) Clinical and biochemical landmarks in systemic autoinflammatory diseases. Annals of Medicine1-10
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Thirusha Lane, Helen J. Lachmann. (2011) The Emerging Role of Interleukin-1β in Autoinflammatory Diseases. Current Allergy and Asthma Reports 11:5, 361-368
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Jeffrey H. Dunn, Lixia Z. Ellis, Mayumi Fujita. (2011) Inflammasomes as molecular mediators of inflammation and cancer: Potential role in melanoma. Cancer Letters
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Yuval Ramot, Tali Czarnowicki, Alex Maly, Paulina Navon-Elkan, Abraham Zlotogorski. (2011) Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome: A Case Report. Pediatric Dermatology 28:5, 538-541
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Nicolino Ruperto, Alberto Martini. (2011) Emerging drugs to treat juvenile idiopathic arthritis. Expert Opinion on Emerging Drugs 16:3, 493-505
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Gabor L. Horvath, Jacob E. Schrum, Christine M. De Nardo, Eicke Latz. (2011) Intracellular sensing of microbes and danger signals by the inflammasomes. Immunological Reviews 243:1, 119-135
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P. Menu, J. E. Vince. (2011) The NLRP3 inflammasome in health and disease: the good, the bad and the ugly. Clinical & Experimental Immunologyno-no
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C. M. Hedrich, N. Bruck, D. Paul, G. Hahn, M. Gahr, A. Rösen-Wolff. (2011) “Mutation negative” familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies. Rheumatology International
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Ivona Aksentijevich, Daniel L. Kastner. (2011) Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nature Reviews Rheumatology 7:8, 469-478
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Isabelle Jéru, Véronique Hentgen, Sylvain Normand, Philippe Duquesnoy, Emmanuelle Cochet, Adriana Delwail, Gilles Grateau, Sandrine Marlin, Serge Amselem, Jean-Claude Lecron. (2011) Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy. Arthritis & Rheumatism 63:7, 2142-2148
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Charles A. Dinarello. (2011) A clinical perspective of IL-1β as the gatekeeper of inflammation. European Journal of Immunology 41:5, 1203-1217
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S. Stojanov, S. Lapidus, P. Chitkara, H. Feder, J. C. Salazar, T. A. Fleisher, M. R. Brown, K. M. Edwards, M. M. Ward, R. A. Colbert, H.-W. Sun, G. M. Wood, B. K. Barham, A. Jones, I. Aksentijevich, R. Goldbach-Mansky, B. Athreya, K. S. Barron, D. L. Kastner. (2011) Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proceedings of the National Academy of Sciences 108:17, 7148-7153
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C. A. Dinarello. (2011) Interleukin-1 in the pathogenesis and treatment of inflammatory diseases. Blood 117:14, 3720-3732
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MING LIM. (2011) Treating inflammation in childhood neurodegenerative disorders. Developmental Medicine & Child Neurology 53:4, 298-304
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Raphaela Goldbach-Mansky. (2011) Current Status of Understanding the Pathogenesis and Management of Patients With NOMID/CINCA. Current Rheumatology Reports 13:2, 123-131
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, Seza Ozen, Joost Frenkel, Nicola Ruperto, Marco Gattorno. (2011) The Eurofever Project: towards better care for autoinflammatory diseases. European Journal of Pediatrics 170:4, 445-452
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A. C. Bulua, A. Simon, R. Maddipati, M. Pelletier, H. Park, K.-Y. Kim, M. N. Sack, D. L. Kastner, R. M. Siegel. (2011) Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). Journal of Experimental Medicine 208:3, 519-533
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Jasmin B. Kuemmerle-Deschner, Pascal N. Tyrrell, Ina Koetter, Helmut Wittkowski, Anja Bialkowski, Nicolai Tzaribachev, Peter Lohse, Assen Koitchev, Christoph Deuter, Dirk Foell, Susanne M. Benseler. (2011) Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. Arthritis & Rheumatism 63:3, 840-849
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S. Borghini, S. Tassi, S. Chiesa, F. Caroli, S. Carta, R. Caorsi, M. Fiore, L. Delfino, D. Lasigliè, C. Ferraris, E. Traggiai, M. Di Duca, G. Santamaria, A. D'Osualdo, M. Tosca, A. Martini, I. Ceccherini, A. Rubartelli, M. Gattorno. (2011) Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis & Rheumatism 63:3, 830-839
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Cristina Conforti-Andreoni, Paola Ricciardi-Castagnoli, Alessandra Mortellaro. (2011) The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond. Cellular and Molecular Immunology 8:2, 135-145
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Franz Bauernfeind, Andrea Ablasser, Eva Bartok, Sarah Kim, Jonathan Schmid-Burgk, Taner Cavlar, Veit Hornung. (2011) Inflammasomes: current understanding and open questions. Cellular and Molecular Life Sciences 68:5, 765-783
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Justin R. Yu, Kieron S. Leslie. (2011) Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response. Current Allergy and Asthma Reports 11:1, 12-20
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Luciana Breda, Marianna Torto, Sara Sanctis, Francesco Chiarelli. (2011) Biologics in children’s autoimmune disorders: efficacy and safety. European Journal of Pediatrics 170:2, 157-167
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Athanassios Kolivras, Anne Theunis, Aline Ferster, Dan Lipsker, Ursula Sass, Anneliese Dussart, Josette André. (2011) Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement. Journal of Cutaneous Pathology 38:2, 202-208
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Ryosuke Osawa, Kristi L. Williams, Nina Singh. (2011) The inflammasome regulatory pathway and infections: Role in pathophysiology and clinical implications. Journal of Infection 62:2, 119-129
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Emanuela Esposito, Salvatore Cuzzocrea. (2011) Anti-TNF therapy in the injured spinal cord. Trends in Pharmacological Sciences 32:2, 107-115
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Helen J. Lachmann, Pierre Quartier, Alexander So, Philip N. Hawkins. (2011) The emerging role of interleukin-1β in autoinflammatory diseases. Arthritis & Rheumatism 63:2, 314-324
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Juan I. Aróstegui. (2011) Hereditary systemic autoinflammatory diseases. Reumatolog ía Cl ínica (English Edition) 7:1, 45-50
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Juan I. Aróstegui. (2011) Etiopatogenia de los síndromes asociados a criopirina: genética, bases moleculares y el inflamasoma. Medicina Clínica 136, 22-28
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Megumu K SAITO. (2011) Inflammasomes and related diseases. Japanese Journal of Clinical Immunology 34:1, 20-28
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Victoria M. Wurster, James G. Carlucci, Kathryn M. Edwards. (2011) Periodic Fever Syndromes. Pediatric Annals 40:1, 48-54
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Marco Gattorno, Alberto Martini. 2011. IMMUNOLOGY AND RHEUMATIC DISEASES. , 16-52.
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Xavier Carné. (2011) Canakinumab, un anticuerpo monoclonal frente a IL-1β, con utilidad potencial en distintos procesos inflamatorios. Medicina Clínica 136, 34-37
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Karyl Barron, Balu Athreya, Daniel Kastner. 2011. PERIODIC FEVER SYNDROMES AND OTHER INHERITED AUTOINFLAMMATORY DISEASES. , 642-660.
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Norman T. Ilowite, Ronald M. Laxer. 2011. PHARMACOLOGY AND DRUG THERAPY. , 71-126.
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E. Lainka, M. Bielak, V. Hilger, O. Basu, U. Neudorf, H. Wittkowski, D. Holzinger, J. Roth, T. Niehues, D. Foell. (2011) Translational research network and patient registry for auto-inflammatory diseases. Rheumatology 50:1, 237-242
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Naotomo Kambe, Takashi Satoh, Yuumi Nakamura, Mari Iwasawa, Hiroyuki Matsue. (2011) Autoinflammatory diseases and the inflammasome: mechanisms of IL-1β activation leading to neutrophil-rich skin disorders. Inflammation and Regeneration 31:1, 72-80
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C. A. Dinarello. (2011) Blocking interleukin-1β in acute and chronic autoinflammatory diseases. Journal of Internal Medicine 269:1, 16-28
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Megumu K. SAITO. (2011) CAPS : Cryopyrin-associated periodic syndrome. Japanese Journal of Clinical Immunology 34:5, 369-377
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Toshio Heike, Megumu K Saito, Ryuta Nishikomori, Takahiro Yasumi, Tatsutoshi Nakahata. (2011) Autoinflammatory diseases - a new entity of inflammation. Inflammation and Regeneration 31:2, 125-136
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Josef S. Smolen, Daniel Aletaha. (2011) Interleukin-6 receptor inhibition with tocilizumab and attainment of disease remission in rheumatoid arthritis: The role of acute-phase reactants. Arthritis & Rheumatism 63:1, 43-52
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Jasmin B Kuemmerle-Deschner, Eduardo Ramos, Norbert Blank, Joachim Roesler, Sandra D Felix, Thomas Jung, Kirstin Stricker, Abhijit Chakraborty, Stacey Tannenbaum, Andrew M Wright, Christiane Rordorf. (2011) Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS). Arthritis Research & Therapy 13:1, R34
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M. Q. Almeida, K. M. Tsang, C. Cheadle, T. Watkins, J.-C. Grivel, M. Nesterova, R. Goldbach-Mansky, C. A. Stratakis. (2011) Protein kinase A regulates caspase-1 via Ets-1 in bone stromal cell-derived lesions: a link between cyclic AMP and pro-inflammatory pathways in osteoblast progenitors. Human Molecular Genetics 20:1, 165-175
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Santiago Jiménez Treviño, Eduardo Ramos Polo. (2011) Tratamiento de los síndromes periódicos asociados a la criopirina (CAPS). Medicina Clínica 136, 29-33
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Adriana A. Jesus, Mazen Osman, Clovis A. Silva, Peter W. Kim, Tuyet-Hang Pham, Massimo Gadina, Barbara Yang, Débora R. Bertola, Magda Carneiro-Sampaio, Polly J. Ferguson, Blair R. Renshaw, Ken Schooley, Michael Brown, Asma Al-Dosari, Jamil Alami, John E. Sims, Raphaela Goldbach-Mansky, Hatem El-Shanti. (2011) Deficiency of interleukin-1-Receptor antagonist (DIRA): description of two unrelated cases from brazil with a novel mutation. Arthritis & Rheumatismn/a-n/a
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Matthew Stenerson, Kevin Dufendach, Ivona Aksentijevich, Jillian Brady, Jared Austin, Ann M. Reed. (2011) The first case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1-receptor antagonist. Arthritis & Rheumatismn/a-n/a
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Isabelle Kone-Paut, Helen J Lachmann, Jasmin B Kuemmerle-Deschner, Eric Hachulla, Kieron S Leslie, Richard Mouy, Alberto Ferreira, Karine Lheritier, Neha Patel, Ralph Preiss, Philip N Hawkins. (2011) Sustained remission of symptoms and improved health-related quality of life in patients with cryopyrin-associated periodic syndrome treated with canakinumab: results of a double-blind placebo-controlled randomized withdrawal study. Arthritis Research & Therapy 13:6, R202
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Jasmin B Kuemmerle-Deschner, Peter Lohse, Ina Koetter, Guenther E Dannecker, Fabian Reess, Katharina Ummenhofer, Silvia Koch, Nikolay Tzaribachev, Anja Bialkowski, Susanne M Benseler. (2011) NLRP3 E311K mutation in a large family with Muckle-Wells syndrome - description of a heterogeneous phenotype and response to treatment.. Arthritis Research & Therapy 13:6, R196
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LEO A.B. JOOSTEN, FRANK L. VAN DE VEERDONK, ALIEKE G. VONK, OTTO C. BOERMAN, MONIQUE KEUTER, GIAMILLA FANTUZZI, INEKE VERSCHUEREN, TOM VAN DER POLL, CHARLES A. DINARELLO, BART JAN KULLBERG, JOS W.M. VAN DER MEER, MIHAI G. NETEA. (2010) Differential susceptibility to lethal endotoxaemia in mice deficient in IL-1α, IL-1β or IL-1 receptor type I. APMIS 118:12, 1000-1007
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A. Yamauchi, H. Iwata, H. Ohnishi, T. Teramoto, N. Kondo, M. Seishima. (2010) Interleukin-17 expression in the urticarial rash of familial cold autoinflammatory syndrome: a case report. British Journal of Dermatology 163:6, 1351-1353
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Jasmin B. Kümmerle-Deschner, Pascal N. Tyrrell, Fabian Reess, Ina Kötter, Peter Lohse, Hermann Girschick, Christian Huemer, Gerd Horneff, Johannes-Peter Haas, Assen Koitschev, Christoph Deuter, Susanne M. Benseler. (2010) Risk factors for severe Muckle-Wells syndrome. Arthritis & Rheumatism 62:12, 3783-3791
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Tassadit Aït-Abdesselam, Thierry Lequerré, Bruno Legallicier, Arnaud François, Xavier Le Loët, Olivier Vittecoq. (2010) Anakinra efficacy in a Caucasian patient with renal AA amyloidosis secondary to cryopyrin-associated periodic syndrome. Joint Bone Spine 77:6, 616-617
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Marco Gattorno, Alberto Martini. (2010) Treatment of autoinflammatory syndromes. Current Opinion in Pediatrics 22:6, 771-778
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A. Aouba, S. Georgin-Lavialle, C. Pagnoux, N. Martin Silva, A. Renand, F. Galateau-Salle, S. Le Toquin, H. Bensadoun, F. Larousserie, S. Silvera, N. Provost, S. Candon, R. Seror, M. de Menthon, O. Hermine, L. Guillevin, B. Bienvenu. (2010) Rationale and efficacy of interleukin-1 targeting in Erdheim-Chester disease. Blood 116:20, 4070-4076
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Zachary Jacobs, Christina E. Ciaccio. (2010) Periodic Fever Syndromes. Current Allergy and Asthma Reports 10:6, 398-404
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Leigh D Church, Michael F McDermott. (2010) Canakinumab: a human anti-IL-1β monoclonal antibody for the treatment of cryopyrin-associated periodic syndromes. Expert Review of Clinical Immunology 6:6, 831-841
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Mario Abinun. (2010) An overview of infectious complications in children on new biologic response-modifying agents. Pediatric Health 4:5, 509-517
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Tuhina Neogi. (2010) Interleukin-1 antagonism in acute gout: Is targeting a single cytokine the answer?. Arthritis & Rheumatism 62:10, 2845-2849
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Sam Mehr, Kristi J Jones, Davinder Singh-Grewal, Ivona Aksentijevich, Alyson Kakakios. (2010) Chronic urticaria of neonatal onset: A potential sign of autoinflammation. Journal of Paediatrics and Child Health 46:10, 608-610
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G. Lionetti, S. Lapidus, R. Goldbach-Mansky, J. Frankovich. (2010) Autoinflammatory Diseases in the Neonate: Mimickers of Neonatal Infections. NeoReviews 11:10, e566-e577
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Alexander So, Marc De Meulemeester, Andrey Pikhlak, A. Eftal Yücel, Dominik Richard, Valda Murphy, Udayasankar Arulmani, Peter Sallstig, Naomi Schlesinger. (2010) Canakinumab for the treatment of acute flares in difficult-to-treat gouty arthritis: Results of a multicenter, phase II, dose-ranging study. Arthritis & Rheumatism 62:10, 3064-3076
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Laurence Feldmeyer, Sabine Werner, Lars E. French, Hans-Dietmar Beer. (2010) Interleukin-1, inflammasomes and the skin. European Journal of Cell Biology 89:9, 638-644
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I. Kötter, G. Horneff. (2010) IL-1-Antagonisten. Zeitschrift für Rheumatologie 69:7, 581-593
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K. Krause, F. Degener, S. Altrichter, E. Ardelean, D. Kalogeromitros, M. Magerl, M. Metz, F. Siebenhaar, K. Weller, M. Maurer. (2010) Kälteinduzierte Quaddeln und Angioödeme. Der Hautarzt 61:9, 743-749
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Loredana Lepore, Giulia Paloni, Roberta Caorsi, Maria Alessio, Donato Rigante, Nicola Ruperto, Marco Cattalini, Alberto Tommasini, Francesco Zulian, Alessando Ventura, Alberto Martini, Marco Gattorno. (2010) Follow-Up and Quality of Life of Patients with Cryopyrin-Associated Periodic Syndromes Treated with Anakinra. The Journal of Pediatrics 157:2, 310-315.e1
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J. W. M. van der Meer, A. Simon. (2010) Blocking IL-1 to slow down progression of ALS?. Proceedings of the National Academy of Sciences 107:29, 12741-12742
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Charles A Dinarello, Marc Y Donath, Thomas Mandrup-Poulsen. (2010) Role of IL-1β in type 2 diabetes. Current Opinion in Endocrinology, Diabetes and Obesity1
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Tetsuo Kubota, Ryuji Koike. (2010) Cryopyrin-associated periodic syndromes: background and therapeutics. Modern Rheumatology 20:3, 213-221
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Charles A. Dinarello. (2010) Why not treat human cancer with interleukin-1 blockade?. Cancer and Metastasis Reviews 29:2, 317-329
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Ioannis Mitroulis, Panagiotis Skendros, Konstantinos Ritis. (2010) Targeting IL-1β in disease; the expanding role of NLRP3 inflammasome. European Journal of Internal Medicine 21:3, 157-163
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Elizabeth Fox, Nalini Jayaprakash, Tuyet-Hang Pham, Ayana Rowley, Cynthia L. McCully, Frank Pucino, Raphaela Goldbach-Mansky. (2010) The serum and cerebrospinal fluid pharmacokinetics of anakinra after intravenous administration to non-human primates. Journal of Neuroimmunology 223:1-2, 138-140
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Gilles Grateau, Mehmet Tuncay Duruöz. (2010) Autoinflammatory conditions: when to suspect? How to treat?. Best Practice & Research Clinical Rheumatology 24:3, 401-411
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James L. Wynn, Ofer Levy. (2010) Role of Innate Host Defenses in Susceptibility to Early-Onset Neonatal Sepsis. Clinics in Perinatology 37:2, 307-337
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James L. Wynn, Hector R. Wong. (2010) Pathophysiology and Treatment of Septic Shock in Neonates. Clinics in Perinatology 37:2, 439-479
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A. Simon, H. Park, R. Maddipati, A. A. Lobito, A. C. Bulua, A. J. Jackson, J. J. Chae, R. Ettinger, H. D. de Koning, A. C. Cruz, D. L. Kastner, H. Komarow, R. M. Siegel. (2010) Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proceedings of the National Academy of Sciences 107:21, 9801-9806
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S. Tassi, S. Carta, L. Delfino, R. Caorsi, A. Martini, M. Gattorno, A. Rubartelli. (2010) Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1 secretion. Proceedings of the National Academy of Sciences 107:21, 9789-9794
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Cailin Henderson, Raphaela Goldbach-Mansky. (2010) Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: Finding the right balance in response to danger signals. Clinical Immunology 135:2, 210-222
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Juan I. Aróstegui, Ma Dolores Lopez Saldaña, Mariona Pascal, Daniel Clemente, Marta Aymerich, Francesc Balaguer, Ajay Goel, Concepción Fournier del Castillo, Josefa Rius, Susana Plaza, Juan Carlos López Robledillo, Manel Juan, Mercedes Ibañez, Jordi Yagüe. (2010) A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism unde. Arthritis & Rheumatism 62:4, 1158-1166
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Fabio Martinon. (2010) Update on Biology: Uric Acid and the Activation of Immune and Inflammatory Cells. Current Rheumatology Reports 12:2, 135-141
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Graham P. Cook, Sinisa Savic, Miriam Wittmann, Michael F. McDermott. (2010) The NLRP3 inflammasome, a target for therapy in diverse disease states. European Journal of Immunology 40:3, 631-634
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Kate Schroder, Jurg Tschopp. (2010) The Inflammasomes. Cell 140:6, 821-832
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Daniel L. Kastner, Ivona Aksentijevich, Raphaela Goldbach-Mansky. (2010) Autoinflammatory Disease Reloaded: A Clinical Perspective. Cell 140:6, 784-790
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Ian Gaël Rodrigue-Gervais, Maya Saleh. (2010) Genetics of inflammasome-associated disorders: A lesson in the guiding principals of inflammasome function. European Journal of Immunology 40:3, 643-648
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Charles A. Dinarello. (2010) Anti-inflammatory Agents: Present and Future. Cell 140:6, 935-950
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Charles A. Dinarello. (2010) IL-1: Discoveries, controversies and future directions. European Journal of Immunology 40:3, 599-606
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Guangxun Meng, Warren Strober. (2010) New insights into the nature of autoinflammatory diseases from mice with Nlrp3 mutations. European Journal of Immunology 40:3, 649-653
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Kenneth L. Rock, Eicke Latz, Fernando Ontiveros, Hajime Kono. (2010) The Sterile Inflammatory Response. Annual Review of Immunology 28:1, 321-342
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John E. Sims, Dirk E. Smith. (2010) The IL-1 family: regulators of immunity. Nature Reviews Immunology 10:2, 117
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Bénédicte Neven, Isabelle Marvillet, Celine Terrada, Alice Ferster, Nathalie Boddaert, Vincent Couloignier, Graziella Pinto, Anne Pagnier, Christine Bodemer, Bahram Bodaghi, Marc Tardieu, Anne Marie Prieur, Pierre Quartier. (2010) Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis & Rheumatism 62:1, 258-267
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Scott M. Steward-Tharp, Yun-jeong Song, Richard M. Siegel, John J. O'Shea. (2010) New insights into T cell biology and T cell-directed therapy for autoimmunity, inflammation, and immunosuppression. Annals of the New York Academy of Sciences 1183:1, 123-148
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Fabio Martinon. (2010) Mechanisms of uric acid crystal-mediated autoinflammation. Immunological Reviews 233:1, 218-232
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T. Odent. 2010. Rhumatismes inflammatoires de l'enfant et de l'adolescent : aspects cliniques et orientations thérapeutiques actuelles. , 211-230.
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Neil Stahl, Allen Radin, Scott Mellis. (2009) Rilonacept-CAPS and Beyond. Annals of the New York Academy of Sciences 1182:1, 124-134
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Raphaela Goldbach-Mansky. (2009) Blocking Interleukin-1 in Rheumatic Diseases. Annals of the New York Academy of Sciences 1182:1, 111-123
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Raphaela Goldbach-Mansky, Daniel L. Kastner. (2009) Autoinflammation: The prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. Journal of Allergy and Clinical Immunology 124:6, 1141-1149
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Hal M. Hoffman. (2009) Therapy of autoinflammatory syndromes. Journal of Allergy and Clinical Immunology 124:6, 1129-1138
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, B. Manger, M. Gaubitz, H. Michels. (2009) Empfehlungen zur Therapie mit Interleukin-1β-blockierenden Wirkstoffen. Zeitschrift für Rheumatologie 68:9, 766-771
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M. Brenner, T. Ruzicka, G. Plewig, P. Thomas, P. Herzer. (2009) Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra. British Journal of Dermatology 161:5, 1199-1201
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I. Foeldvari, J. Kümmerle- Deschner. (2009) Klinik der autoinflammatorischen Erkrankungen im Kindesalter. Zeitschrift für Rheumatologie 68:9, 726-732
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Y. J. Crow, J. Rehwinkel. (2009) Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Human Molecular Genetics 18:R2, R130-R136
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Manfred Zierhut, Deshka Doycheva, Sabine Biester, Nicole Stübiger, Jasmin Kümmerle-Deschner, Christoph Deuter. (2009) Therapy of Uveitis in Children. International Ophthalmology Clinics 48:3, 131-152
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Sinisa Savic, Michael F. McDermott. (2009) Inflammation: Canakinumab for the cryopyrin-associated periodic syndromes. Nature Reviews Rheumatology 5:10, 529-530
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