L. Maksimovic, J. Stirnemann, F. Caux, N. Ravet, S. Rouaghe et al., New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes, Rheumatology, vol.47, issue.3, pp.309-310, 2008.
DOI : 10.1093/rheumatology/kem318

B. Neven, A. Prieur, Q. Dit-maire, and P. , Cryopyrinopathies: update on pathogenesis and treatment, Nature Clinical Practice Rheumatology, vol.105, issue.9, pp.481-489, 2008.
DOI : 10.4049/jimmunol.175.4.2630

E. Riedel, Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome, Rheumatol Oxf Engl, vol.55, pp.689-696, 2016.

L. Cuisset, I. Jeru, B. Dumont, A. Fabre, E. Cochet et al., Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France, Annals of the Rheumatic Diseases, vol.70, issue.3, pp.495-499, 2011.
DOI : 10.1136/ard.2010.138420

E. Lainka, U. Neudorf, P. Lohse, C. Timmann, M. Bielak et al., Analysis of Cryopyrin-Associated Periodic Syndromes (CAPS) in German Children: Epidemiological, Clinical and Genetic Characteristics, Klinische P??diatrie, vol.222, issue.06, pp.356-361, 2010.
DOI : 10.1055/s-0030-1265181

R. Levy, L. Gérard, J. Kuemmerle-deschner, H. Lachmann, I. Koné-paut et al., Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry, Annals of the Rheumatic Diseases, vol.15, issue.11, pp.2043-2049, 2015.
DOI : 10.1186/ar4171

A. Kolivras, A. Theunis, A. Ferster, D. Lipsker, U. Sass et al., Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement, Journal of Cutaneous Pathology, vol.18, issue.2, pp.202-208, 2011.
DOI : 10.1002/ajmg.a.31148

N. Mamoudjy, H. Maurey, I. Marie, I. Koné-paut, and K. Deiva, Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS), Orphanet Journal of Rare Diseases, vol.41, issue.8, p.33, 2017.
DOI : 10.3899/jrheum.131291

T. Parker, S. Keddie, D. Kidd, T. Lane, M. Maviki et al., Neurology of the cryopyrin-associated periodic fever syndrome, European Journal of Neurology, vol.355, issue.7, pp.1145-1151, 2016.
DOI : 10.1056/NEJMoa055137

H. Hoffman, A. Wanderer, and D. Broide, Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever, Journal of Allergy and Clinical Immunology, vol.108, issue.4, pp.615-620, 2001.
DOI : 10.1067/mai.2001.118790

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321996

B. Stych and D. Dobrovolny, Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives, Current Medical Research and Opinion, vol.24, issue.6, pp.1577-1582, 2008.
DOI : 10.1185/03007990802081543

L. Espandar, C. Boehlke, and M. Kelly, First report of keratitis in familial cold autoinflammatory syndrome, Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie, vol.49, issue.3, pp.304-306, 2014.
DOI : 10.1016/j.jcjo.2014.01.007

P. Alhopuro, T. Klimenko, and K. Aittomäki, [Fever from the cold--familial cold autoinflammatory syndrome], Duodecim Laaketieteellinen Aikakauskirja, vol.125, pp.542-545, 2009.

B. Thornton, H. Hoffman, A. Bhat, B. Don, A. Simon et al., Successful treatment of renal amyloidosis due to familial cold autoinflammatory syndrome using an interleukin 1 receptor antagonist Hereditary periodic fever and reactive amyloidosis, Am J Kidney Dis Off J Natl Kidney Found Clin Exp Med, vol.495, pp.477-48187, 2005.

E. Aganna, F. Martinon, P. Hawkins, J. Ross, D. Swan et al., Association of mutations in theNALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis, Arthritis & Rheumatism, vol.46, issue.9, pp.2445-2452, 2002.
DOI : 10.1002/art.10509

A. Wanderer and H. Hoffman, The spectrum of acquired and familial cold-induced urticaria/urticaria-like syndromes, Immunology and Allergy Clinics of North America, vol.24, issue.2, pp.259-286, 2004.
DOI : 10.1016/j.iac.2004.01.001

R. Johnstone, W. Dolen, and H. Hoffman, A large kindred with familial cold autoinflammatory syndrome, Annals of Allergy, Asthma & Immunology, vol.90, issue.2, pp.233-237, 2003.
DOI : 10.1016/S1081-1206(10)62147-3

C. Penadés, I. , L. Montesinos, B. , and M. Puche, A: [Syndrome of Muckle-Wells and autoinflammatory familiar syndrome induced by cold, Med ClinBarc), vol.136, 2011.

C. Gandhi, C. Healy, A. Wanderer, and H. Hoffman, Familial atypical cold urticaria: Description of a new hereditary disease, Journal of Allergy and Clinical Immunology, vol.124, issue.6, pp.1245-1250, 2009.
DOI : 10.1016/j.jaci.2009.09.035

L. Huilaja, R. Riekki, P. Leinonen, A. Oikarinen, and K. Tasanen, Familial Atypical Cold Urticaria Localized on the Face: A Case Report, Acta Dermato Venereologica, vol.94, issue.1, pp.88-89, 2014.
DOI : 10.2340/00015555-1621

T. Muckle and W. Null, Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome, Q J Med, vol.31, pp.235-248, 1962.

R. Sabroe, C. Stokes, L. Parker, K. Higgins, and L. Prince, gene, identified by evidence of excessive monocyte production of functional interleukin 1?? and rapid response to anakinra, Clinical and Experimental Dermatology, vol.56, issue.8, pp.874-877, 2013.
DOI : 10.1002/art.22842

T. Muckle, The 'Muckle???Wells' syndrome, British Journal of Dermatology, vol.36, issue.1, pp.87-92, 1979.
DOI : 10.1016/0002-9343(67)90167-2

K. Buxtorf, J. Cerottini, J. Fellrath, L. Debétaz, J. Guillod et al., Muckle- Wells syndrome: 4 cases in three generations], Ann Dermatol Venereol, vol.127, pp.822-824, 2000.

J. Kuemmerle-deschner, P. Lohse, I. Koetter, G. Dannecker, F. Reess et al., NLRP3 E311K mutation in a large family with Muckle-Wells syndrome - description of a heterogeneous phenotype and response to treatment, Arthritis Research & Therapy, vol.13, issue.6, p.196, 2011.
DOI : 10.1002/art.20032

N. Deschner, Challenges in Diagnosing Muckle-Wells Syndrome: Identifying Two Distinct Phenotypes, Arthritis Care & Research, vol.50, issue.Suppl, pp.765-772, 2014.
DOI : 10.1093/rheumatology/keq324

J. Kuemmerle-deschner, A. Koitschev, K. Ummenhofer, S. Hansmann, S. Plontke et al., Hearing loss in Muckle-Wells syndrome, Arthritis & Rheumatism, vol.70, issue.Suppl, pp.824-831, 2013.
DOI : 10.1086/340786

URL : http://onlinelibrary.wiley.com/doi/10.1002/art.37810/pdf

A. Koitschev, K. Gramlich, S. Hansmann, S. Benseler, S. Plontke et al., Progressive familial hearing loss in Muckle-Wells syndrome, Acta Oto-Laryngologica, vol.101, issue.7, pp.756-762, 2012.
DOI : 10.1002/jcb.21216

N. Haas, W. Küster, T. Zuberbier, and B. Henz, Muckle-Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred, British Journal of Dermatology, vol.103, issue.1, pp.99-104, 2004.
DOI : 10.1093/qjmed/91.7.489

M. El-darouti, S. Marzouk, and M. Abdel-halim, Muckle-Wells syndrome: Report of six cases with hyperpigmented sclerodermoid skin lesions, International Journal of Dermatology, vol.257, issue.3, pp.239-244, 2006.
DOI : 10.1016/S0140-6736(97)24044-4

V. Molho-pessach and A. Zlotogorski, H syndrome and Muckle???Wells syndrome, Journal of the American Academy of Dermatology, vol.61, issue.2, p.365, 2009.
DOI : 10.1016/j.jaad.2009.04.040

I. Gorovoy, J. Gorovoy, D. Salomao, and M. Gorovoy, Chronic Keratitis with Intrastromal Epithelioid Histiocytes, Cornea, vol.32, issue.4, pp.510-512, 2013.
DOI : 10.1097/ICO.0b013e3182784ad3

A. Shakeel and P. Gouws, Muckle???Wells syndrome: another cause of acute anterior uveitis, Eye, vol.70, issue.6
DOI : 10.1038/sj.eye.6702704

G. Murphy, M. Daly, O. Sullivan, M. Stack, J. Rowczenio et al., An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K, Rheumatology, vol.50, issue.2, pp.419-420, 2011.
DOI : 10.1093/rheumatology/keq280

URL : https://academic.oup.com/rheumatology/article-pdf/50/2/419/5049585/keq280.pdf

B. Granel, N. Philip, J. Serratrice, N. Ene, G. Grateau et al., <i>CIAS1</i> Mutation in a Patient with Overlap between Muckle-Wells and Chronic Infantile Neurological Cutaneous and Articular Syndromes, Dermatology, vol.206, issue.3, pp.257-259, 2003.
DOI : 10.1159/000068883

M. Lokuta, K. Cooper, I. Aksentijevich, D. Kastner, and A. Huttenlocher, Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome, Annals of Allergy, Asthma & Immunology, vol.95, issue.4, pp.394-399, 2005.
DOI : 10.1016/S1081-1206(10)61159-3

S. Compeyrot-lacassagne, T. Tran, S. Guillaume-czitrom, and M. I. , Brain multiple sclerosis-like lesions in a patient with Muckle-Wells syndrome, Rheumatology, vol.48, issue.12, pp.1618-1619, 2009.
DOI : 10.1093/rheumatology/kep321

T. Tran, I. Koné-paut, I. Marie, J. Ninet, L. Cuisset et al., Muckle-Wells Syndrome and Male Hypofertility: A Case Series, Seminars in Arthritis and Rheumatism, vol.42, issue.3, pp.327-331, 2012.
DOI : 10.1016/j.semarthrit.2012.03.005

C. Krausz, Male infertility: Pathogenesis and clinical diagnosis, Best Practice & Research Clinical Endocrinology & Metabolism, vol.25, issue.2, pp.271-285, 2011.
DOI : 10.1016/j.beem.2010.08.006

M. Fraczek and M. Kurpisz, Inflammatory mediators exert toxic effects of oxidative stress on human spermatozoa, Journal of Andrology, vol.28, issue.2, pp.325-333, 2007.
DOI : 10.2164/jandrol.106.001149

M. Gruschwitz, R. Brezinschek, and H. Brezinschek, Cytokine levels in the seminal plasma of infertile males, J Androl, vol.17, pp.158-163, 1996.

A. Headley, F. Cordingley, P. Hawkins, and D. Riminton, Muckle???Wells Cryopyrinopathy: Complex Phenotyping and Response to Therapy in a New Multiplex Kindred, Inflammation, vol.42, issue.2, pp.396-401, 2014.
DOI : 10.1002/art.37827

N. Weegerink, M. Schraders, J. Leijendeckers, K. Slieker, P. Huygen et al., Audiometric characteristics of a Dutch family with Muckle-Wells syndrome, Hearing Research, vol.282, issue.1-2, pp.243-251, 2011.
DOI : 10.1016/j.heares.2011.07.006

J. Kuemmerle-deschner, A. Koitschev, P. Tyrrell, S. Plontke, N. Deschner et al., Early detection of sensorineural hearing loss in Muckle-Wells-syndrome, Pediatric Rheumatology, vol.282, issue.1???2, p.43, 2015.
DOI : 10.1016/j.heares.2011.07.006

J. Kümmerle-deschner, P. Tyrrell, F. Reess, I. Kötter, P. Lohse et al., Risk factors for severe Muckle-Wells syndrome, Arthritis & Rheumatism, vol.65, issue.Suppl, pp.3783-3791, 2010.
DOI : 10.1136/ard.2005.038091

S. Marquínez, M. , G. Fernández, E. Morís-de-la-tassa, and J. , Periodic fever: From Still's disease to Muckle-Wells syndrome, Reumatol Clin, 2017.

K. Füger, E. Fleischmann, M. Weber, and J. Mann, Komplikationen im Verlauf eines Muckle-Wells-Syndroms, DMW - Deutsche Medizinische Wochenschrift, vol.117, issue.07, pp.256-260, 19461992.
DOI : 10.1055/s-2008-1062305

R. Schwarz, H. Dralle, R. Linke, W. Nathrath, and K. Neumann, Amyloid Goiter and Arthhtides After Kidney Transplantation in a Patient with Systemic Amyloidosis and Muckle-Wells Syndrome, American Journal of Clinical Pathology, vol.92, issue.6, pp.821-825, 1989.
DOI : 10.1093/ajcp/92.6.821

B. Kortus-götze and J. Hoyer, Successful renal transplantation in Muckle-Wells syndrome treated with anti-IL-1?-monoclonal antibody, NDT Plus, vol.4, pp.404-405, 2011.

L. Bolaños, J. Mosquera-reboredo, M. Cao, T. Ferreiro, B. Veleiro et al., Renal and thyroid amyloidosis secondary tocryopyrin-associated periodic syndrome(Muckle-Wells syndrome) (NLRP3 mutation), Nefrol Publicacion Of Soc Espanola Nefrol, vol.33, pp.266-271, 2013.

G. Rodríguez, F. , M. Lucena, F. , P. Griñán et al., Umbria Domínguez S: [Muckle-Wells syndrome associated with idiopathic interstitial pneumopathy], An Med Interna Madr Spain, vol.8, pp.85-86, 19841991.

K. Leslie, H. Lachmann, E. Bruning, J. Mcgrath, A. Bybee et al., Phenotype, Genotype, and Sustained Response to Anakinra in 22 Patients With Autoinflammatory Disease Associated With CIAS-1/NALP3 Mutations, Archives of Dermatology, vol.142, issue.12, pp.1591-1597, 2006.
DOI : 10.1001/archderm.142.12.1591

J. Kuemmerle-deschner, H. Wittkowski, P. Tyrrell, I. Koetter, P. Lohse et al., Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens, Arthritis Research & Therapy, vol.15, issue.3, p.64, 2013.
DOI : 10.1002/art.20631

N. Tzaribachev, Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome, Arthritis Rheum, vol.63, pp.840-849, 2011.

A. Prieur and C. Griscelli, Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation, The Journal of Pediatrics, vol.99, issue.1, pp.79-83, 1981.
DOI : 10.1016/S0022-3476(81)80961-4

S. Hassink and D. Goldsmith, Neonatal Onset Multisystem Inflammatory Disease, Arthritis & Rheumatism, vol.2, issue.5, pp.668-673, 1983.
DOI : 10.1002/art.1780260515

URL : http://onlinelibrary.wiley.com/doi/10.1002/art.1780260515/pdf

A. Campbell and F. Clifton, ADULT TOXOPLASMOSIS IN ONE FAMILY, Brain, vol.73, issue.3, pp.281-290, 1950.
DOI : 10.1093/brain/73.3.281

M. Kanariou, S. Tantou, I. Varela, M. Raptaki, C. Petropoulou et al., Successful Management of Cryopyrin-Associated Periodic Syndrome With Canakinumab in Infancy, PEDIATRICS, vol.134, issue.5, pp.1468-1473, 2014.
DOI : 10.1542/peds.2013-3185

A. Prieur, A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy, Clin Exp Rheumatol, vol.19, pp.103-106, 2001.

H. Dollfus, R. Häfner, H. Hofmann, R. Russo, L. Denda et al., Chronic Infantile Neurological Cutaneous and Articular/Neonatal Onset Multisystem Inflammatory Disease Syndrome<subtitle>Ocular Manifestations in a Recently Recognized Chronic Inflammatory Disease of Childhood</subtitle>, Archives of Ophthalmology, vol.118, issue.10, pp.1386-1392, 1960.
DOI : 10.1001/archopht.118.10.1386

Y. Paccaud, G. Berthet, V. Scheven-gête, A. Vaudaux, B. Mivelaz et al., Neonatal treatment of CINCA syndrome, Pediatric Rheumatology, vol.12, issue.1, p.52, 2014.
DOI : 10.1016/j.autrev.2012.07.026

URL : https://ped-rheum.biomedcentral.com/track/pdf/10.1186/1546-0096-12-52?site=ped-rheum.biomedcentral.com

N. Ahmadi, C. Brewer, C. Zalewski, K. King, J. Butman et al., Cryopyrinassociated periodic syndromes: otolaryngologic and audiologic manifestations. Otolaryngol--Head Neck Surg Off J Am Acad Otolaryngol-Head Neck Surg, pp.295-302, 2011.
DOI : 10.1177/0194599811402296

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407887

M. Finetti, A. Omenetti, S. Federici, R. Caorsi, and M. Gattorno, Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review, Orphanet Journal of Rare Diseases, vol.34, issue.10, p.167, 2016.
DOI : 10.1016/j.clinthera.2012.09.009

URL : https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-016-0542-8?site=ojrd.biomedcentral.com

J. Kuemmerle-deschner, S. Ozen, P. Tyrrell, I. Kone-paut, R. Goldbach-mansky et al., Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS), Annals of the Rheumatic Diseases, vol.76, issue.6, pp.942-947, 2017.
DOI : 10.1136/annrheumdis-2016-209686

S. Federici and M. Gattorno, A practical approach to the diagnosis of autoinflammatory diseases in childhood, Best Practice & Research Clinical Rheumatology, vol.28, issue.2, pp.263-276, 2014.
DOI : 10.1016/j.berh.2014.05.005

L. Biesecker and N. Spinner, A genomic view of mosaicism and human disease, Nature Reviews Genetics, vol.158, issue.5, pp.307-320, 2013.
DOI : 10.1002/ajmg.a.35726

A. Rohlin, J. Wernersson, Y. Engwall, L. Wiklund, J. Björk et al., Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques, Human Mutation, vol.5, issue.6, pp.1012-1020, 2009.
DOI : 10.1002/humu.20980

J. Feldmann, A. Prieur, P. Quartier, P. Berquin, S. Certain et al., Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes, The American Journal of Human Genetics, vol.71, issue.1, pp.198-203, 2002.
DOI : 10.1086/341357

J. Aróstegui, A. Aldea, C. Modesto, M. Rua, F. Argüelles et al., gene, Arthritis & Rheumatism, vol.50, issue.12, pp.4045-4050, 2004.
DOI : 10.1002/art.20033

I. Aksentijevich, M. Nowak, M. Mallah, J. Chae, W. Watford et al., De novoCIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases, Arthritis & Rheumatism, vol.22, issue.12, pp.3340-3348, 2002.
DOI : 10.1002/art.10688

K. Nakagawa, E. Gonzalez-roca, A. Souto, T. Kawai, H. Umebayashi et al., mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes, Annals of the Rheumatic Diseases, vol.72, issue.3, pp.603-610, 2015.
DOI : 10.1136/annrheumdis-2012-202913

R. Goldbach-mansky, N. Dailey, S. Canna, A. Gelabert, J. Jones et al., Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1?? Inhibition, New England Journal of Medicine, vol.355, issue.6, pp.581-592, 2006.
DOI : 10.1056/NEJMoa055137

M. Saito, A. Fujisawa, R. Nishikomori, N. Kambe, M. Nakata-hizume et al., Somatic Mosaicism of CIAS1 in a Patient with Chronic Infantile Neurologic, Cutaneous, Articular Syndrome, Journal of Allergy and Clinical Immunology, vol.117, issue.2, pp.3579-3585, 2005.
DOI : 10.1016/j.jaci.2005.12.074

J. Aróstegui, L. Saldaña, M. Pascal, M. Clemente, D. Aymerich et al., 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, vol.338, issue.Suppl, pp.1158-1166, 2010.
DOI : 10.1002/art.27342

P. Danielson, R. Kristinsson, R. Shelton, and G. Laberge, Separating human DNA mixtures using denaturing high-performance liquid chromatography, Expert Review of Molecular Diagnostics, vol.26, issue.1, pp.53-63, 2005.
DOI : 10.1006/abio.1994.1543

S. Jiménez-treviño, E. González-roca, E. Ruiz-ortiz, J. Yagüe, E. Ramos et al., mutation in cryopyrin-associated periodic syndromes: Table??1, Annals of the Rheumatic Diseases, vol.72, issue.6, pp.1109-1110, 2013.
DOI : 10.1136/annrheumdis-2012-202913

J. De-inocencio, A. Mensa-vilaro, P. Tejada-palacios, E. Enriquez-merayo, E. González-roca et al., Somatic NOD2 mosaicism in Blau syndrome, Journal of Allergy and Clinical Immunology, vol.136, issue.2, pp.484-487, 2015.
DOI : 10.1016/j.jaci.2014.12.1941

L. Houx, E. Hachulla, I. Kone-paut, P. Quartier, I. Touitou et al., Musculoskeletal Symptoms in Patients With Cryopyrin-Associated Periodic Syndromes: A Large Database Study, Arthritis & Rheumatology, vol.16, issue.11, pp.3027-3036, 2015.
DOI : 10.1002/art.27342

URL : https://hal.archives-ouvertes.fr/hal-01261619

E. Elinav, T. Strowig, J. Henao-mejia, and R. Flavell, Regulation of the Antimicrobial Response by NLR Proteins, Immunity, vol.34, issue.5, pp.665-679, 2011.
DOI : 10.1016/j.immuni.2011.05.007

F. Martinon, K. Burns, and J. Tschopp, The Inflammasome, Molecular Cell, vol.10, issue.2, pp.417-426, 2002.
DOI : 10.1016/S1097-2765(02)00599-3

M. Lamkanfi and V. Dixit, Inflammasomes and Their Roles in Health and Disease, Annual Review of Cell and Developmental Biology, vol.28, issue.1, pp.137-161, 2012.
DOI : 10.1146/annurev-cellbio-101011-155745

F. Bauernfeind, A. Ablasser, E. Bartok, S. Kim, J. Schmid-burgk et al., Inflammasomes: current understanding and open questions, Cellular and Molecular Life Sciences, vol.284, issue.5, pp.765-783, 2011.
DOI : 10.1074/jbc.M806084200

E. Meylan, J. Tschopp, and K. M. , Intracellular pattern recognition receptors in the host response, Nature, vol.83, issue.7098, pp.39-44, 2006.
DOI : 10.4049/jimmunol.175.8.5260

C. Dinarello, Interleukin-1beta, Interleukin-18, and the Interleukin-1beta Converting Enzymea, Annals of the New York Academy of Sciences, vol.4, issue.1 MOLECULAR MEC, pp.1-11, 1998.
DOI : 10.1016/0167-5699(90)90155-3

A. Yazdi, G. Guarda, N. Riteau, S. Drexler, A. Tardivel et al., Nanoparticles activate the NLR pyrin domain containing 3 (Nlrp3) inflammasome and cause pulmonary inflammation through release of IL-1?? and IL-1??, Proceedings of the National Academy of Sciences, vol.281, issue.11, pp.19449-19454, 2010.
DOI : 10.1074/jbc.M512447200

M. Ganz, T. Csak, B. Nath, and G. Szabo, Lipopolysaccharide induces and activates the Nalp3 inflammasome in the liver, World Journal of Gastroenterology, vol.17, issue.43, pp.4772-4778, 2011.
DOI : 10.3748/wjg.v17.i43.4772

R. Zhou, A. Yazdi, P. Menu, and J. Tschopp, A role for mitochondria in NLRP3 inflammasome activation, Nature, vol.14, issue.7329, pp.221-225, 2011.
DOI : 10.1038/sj.cdd.4402142

A. Delluc, N. Limal, X. Puéchal, C. Francès, J. Piette et al., Efficacy of anakinra, an IL1 receptor antagonist, in refractory Sweet syndrome, Annals of the Rheumatic Diseases, vol.67, issue.2, pp.278-279, 2008.
DOI : 10.1136/ard.2006.068254

Y. Bilginer, N. Ayaz, and S. Ozen, Anti-IL-1 treatment for secondary amyloidosis in an adolescent with FMF and Beh??et???s disease, Clinical Rheumatology, vol.348, issue.25, pp.209-210, 2010.
DOI : 10.1007/s10067-009-1279-8

C. Botsios, P. Sfriso, A. Furlan, L. Punzi, and C. Dinarello, Resistant Beh??et Disease Responsive to Anakinra, Annals of Internal Medicine, vol.149, issue.4, pp.284-286, 2008.
DOI : 10.7326/0003-4819-149-4-200808190-00018

A. Jesus and R. Goldbach-mansky, IL-1 Blockade in Autoinflammatory Syndromes, Annual Review of Medicine, vol.65, issue.1, pp.223-244, 2014.
DOI : 10.1146/annurev-med-061512-150641

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4178953

P. Hawkins, H. Lachmann, and M. Mcdermott, Interleukin-1???Receptor Antagonist in the Muckle???Wells Syndrome, anakinra on arthropathy in CINCA/NOMID syndrome, pp.2583-25849, 2003.
DOI : 10.1056/NEJM200306193482523

I. Koné-paut and M. Piram, Targeting interleukin-1?? in CAPS (cryopyrin-associated periodic) syndromes, Autoimmunity Reviews, vol.12, issue.1, pp.77-80, 2012.
DOI : 10.1016/j.autrev.2012.07.026

H. Lachmann, I. Kone-paut, J. Kuemmerle-deschner, K. Leslie, E. Hachulla et al., Use of Canakinumab in the Cryopyrin-Associated Periodic Syndrome, New England Journal of Medicine, vol.360, issue.23, pp.2416-2425, 2009.
DOI : 10.1056/NEJMoa0810787

J. Kuemmerle-deschner, E. Hachulla, R. Cartwright, P. Hawkins, T. Tran et al., Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes, Annals of the Rheumatic Diseases, vol.70, issue.12, pp.2095-2102, 2011.
DOI : 10.1136/ard.2011.152728

R. Caorsi, L. Lepore, F. Zulian, M. Alessio, A. Stabile et al., The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age, Arthritis Research & Therapy, vol.15, issue.1, p.33, 2013.
DOI : 10.1002/art.33342

S. Yokota, T. Imagawa, R. Nishikomori, H. Takada, K. Abrams et al., Longterm safety and efficacy of canakinumab in cryopyrin-associated periodic syndrome: results from an open-label, phase III pivotal study in Japanese patients, Clin Exp Rheumatol, vol.117, p.124, 2016.

T. Imagawa, R. Nishikomori, H. Takada, S. Takeshita, N. Patel et al., Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results), Clin Exp Rheumatol, vol.31, pp.302-309, 2013.

R. Russo, S. Melo-gomes, H. Lachmann, K. Wynne, K. Rajput et al., Efficacy and safety of canakinumab therapy in paediatric patients with cryopyrin-associated periodic syndrome: a single-centre, real-world experience, Rheumatology, vol.53, issue.4, pp.665-670, 2014.
DOI : 10.1093/rheumatology/ket415

J. Kuemmerle-deschner and I. Haug, Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians, Therapeutic Advances in Musculoskeletal Disease, vol.70, issue.6, pp.315-329, 2013.
DOI : 10.1016/j.coi.2008.01.003

M. Hirano, J. Seguchi, M. Yamamura, A. Narita, H. Okanobu et al., Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study, Journal of Ophthalmic Inflammation and Infection, vol.30, issue.1, p.34, 2015.
DOI : 10.2177/jsci.30.63

M. Tsatsos, P. Hawkin, and P. Hossain, Corneal response to Canakinumab in Cryopyrin associated periodic fever syndrome, British Journal of Ophthalmology, vol.1, issue.8, pp.1081-1082, 2013.
DOI : 10.1097/ICO.0b013e3182784ad3

URL : https://eprints.soton.ac.uk/352125/1/Br%2520J%2520Ophthalmol-2013-Tsatsos-1081-2.pdf

C. Marsaud and M. I. , Longterm Followup of Quality of Life in Patients with Cryopyrin-associated Periodic Syndrome Treated with Canakinumab, an Anti-interleukin 1?? Monoclonal Antibody, The Journal of Rheumatology, vol.41, issue.8, pp.1721-1722, 2014.
DOI : 10.3899/jrheum.131291

I. Kone-paut, P. Quartier, O. Fain, G. Grateau, P. Pillet et al., Real-World Experience and Impact of Canakinumab in Cryopyrin-Associated Periodic Syndrome: Results From a French Observational Study, Arthritis Care & Research, vol.41, issue.6, pp.903-911, 2017.
DOI : 10.3899/jrheum.131291

J. Anton, I. Calvo, J. Fernández-martin, M. Gamir, R. Merino et al., Efficacy and safety of canakinumab in cryopyrin-associated periodic syndromes: results from a Spanish cohort, Clin Exp Rheumatol, vol.33, pp.67-71, 2015.

R. Goldbach-mansky, S. Shroff, M. Wilson, C. Snyder, S. Plehn et al., A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 trap) in patients with familial cold autoinflammatory syndrome, Arthritis & Rheumatism, vol.58, issue.8, pp.2432-2442, 2008.
DOI : 10.4049/jimmunol.175.4.2630

H. Hoffman, M. Throne, N. Amar, M. Sebai, A. Kivitz et al., Efficacy and safety of rilonacept (interleukin-1 trap) in patients with cryopyrin-associated periodic syndromes: Results from two sequential placebo-controlled studies, Arthritis & Rheumatism, vol.365, issue.8, pp.2443-2452, 2008.
DOI : 10.1002/art.23687

H. Hoffman, M. Throne, N. Amar, R. Cartwright, A. Kivitz et al., Long-Term Efficacy and Safety Profile of Rilonacept in the Treatment of Cryopryin-Associated Periodic Syndromes: Results of a 72-Week Open-Label Extension Study, Clinical Therapeutics, vol.34, issue.10, pp.2091-2103, 2012.
DOI : 10.1016/j.clinthera.2012.09.009

N. Haar, M. Oswald, J. Jeyaratnam, A. J. Barron, K. Brogan et al., Recommendations for the management of autoinflammatory diseases, Annals of the Rheumatic Diseases, vol.66, issue.(0003???9950 (Print)), pp.1636-1644, 2015.
DOI : 10.1002/art.38802

S. Assen, N. Agmon-levin, O. Elkayam, R. Cervera, M. Doran et al., EULAR recommendations for vaccination in adult patients with autoimmune inflammatory rheumatic diseases, Annals of the Rheumatic Diseases, vol.70, issue.3, pp.414-422, 2011.
DOI : 10.1136/ard.2010.137216

U. Walker, H. Hoffman, R. Williams, J. Kuemmerle-deschner, and P. Hawkins, in Patients With Cryopyrin-Associated Periodic Syndromes, Arthritis & Rheumatology, vol.202, issue.2, pp.516-520, 2016.
DOI : 10.1086/653739

V. Jaeger, H. Hoffman, T. Van-der-poll, H. Tilson, J. Seibert et al., Safety of vaccinations in patients with cryopyrin-associated periodic syndromes: a prospective registry based study, Rheumatology, p.185, 2017.
DOI : 10.1093/rheumatology/kex185

M. Blech, D. Peter, P. Fischer, M. Bauer, M. Hafner et al., One Target???Two Different Binding Modes: Structural Insights into Gevokizumab and Canakinumab Interactions to Interleukin-1??, Journal of Molecular Biology, vol.425, issue.1, pp.94-111, 2013.
DOI : 10.1016/j.jmb.2012.09.021

G. Fenini, E. Contassot, and L. French, Potential of IL-1, IL-18 and Inflammasome Inhibition for the Treatment of Inflammatory Skin Diseases, Frontiers in Pharmacology, vol.47, p.278, 2017.
DOI : 10.1002/mc.20437

A. Goh, S. Bertin-maghit, P. Yeo, S. Ho, A. Derks et al., A novel human anti-interleukin-1?? neutralizing monoclonal antibody showing in vivo efficacy, mAbs, vol.6, issue.3, pp.765-773, 2014.
DOI : 10.1038/nprot.2007.173

R. Coll, A. Robertson, J. Chae, S. Higgins, R. Muñoz-planillo et al., A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases, Nature Medicine, vol.1040, pp.248-255, 2015.
DOI : 10.1007/978-1-62703-523-1_2

Y. Youm, K. Nguyen, R. Grant, E. Goldberg, M. Bodogai et al., The ketone metabolite ??-hydroxybutyrate blocks NLRP3 inflammasome???mediated inflammatory disease, Nature Medicine, vol.488, pp.263-269, 2015.
DOI : 10.1038/nature11250

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352123

D. Cotter, B. Ercal, D. Avignon, D. Dietzen, and P. Crawford, Impact of Peripheral Ketolytic Deficiency on Hepatic Ketogenesis and Gluconeogenesis during the Transition to Birth, Journal of Biological Chemistry, vol.59, issue.27, pp.19739-19749, 2013.
DOI : 10.1136/jclinpath-2011-200218

M. Netea and L. Joosten, Inflammasome Inhibition: Putting Out the Fire, Cell Metabolism, vol.21, issue.4, pp.513-514, 2015.
DOI : 10.1016/j.cmet.2015.03.012

URL : http://doi.org/10.1016/j.cmet.2015.03.012

T. Kallinich, Regulating against the dysregulation: new treatment options in autoinflammation, Seminars in Immunopathology, vol.43, issue.4, pp.429-437, 2015.
DOI : 10.1016/j.arcmed.2012.06.011

N. Tanaka, K. Izawa, M. Saito, M. Sakuma, K. Oshima et al., High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study, Arthritis & Rheumatism, vol.9, issue.11, pp.3625-3632, 2011.
DOI : 10.1038/gene.2008.66

B. Neven, I. Callebaut, A. Prieur, J. Feldmann, C. Bodemer et al., Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU, Blood, vol.103, issue.7, pp.2809-2815, 2004.
DOI : 10.1182/blood-2003-07-2531

URL : https://hal.archives-ouvertes.fr/hal-00086300

A. 179-rösen-wolff, J. Quietzsch, H. Schröder, R. Lehmann, M. Gahr et al., Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment, European Journal of Haematology, vol.127, issue.3, pp.215-219, 2003.
DOI : 10.1016/S0929-693X(99)80006-2

M. Saito, R. Nishikomori, N. Kambe, A. Fujisawa, H. Tanizaki et al., Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients, Blood, vol.111, issue.4, pp.2132-2141, 2008.
DOI : 10.1182/blood-2007-06-094201

URL : http://www.bloodjournal.org/content/bloodjournal/111/4/2132.full.pdf

E. Omoyinmi, M. Gomes, S. Standing, A. Rowczenio, D. Eleftheriou et al., Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome, Arthritis & Rheumatology, vol.155, issue.1, pp.197-202, 2014.
DOI : 10.1002/ajmg.a.34325

Q. Zhou, I. Aksentijevich, G. Wood, A. Walts, P. Hoffmann et al., Brief Report, Epidemiology, vol.27, issue.5, pp.2482-2486, 2015.
DOI : 10.1097/EDE.0000000000000502

A. Mensa-vilaro, T. Bosque, M. Magri, G. Honda, Y. Martínez-banaclocha et al., Mosaicism, Arthritis & Rheumatology, vol.5, issue.12, pp.3035-3041, 2016.
DOI : 10.1038/nri1707

H. De-koning, M. Van-gijn, M. Stoffels, J. Jongekrijg, P. Zeeuwen et al., Myeloid lineage???restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome, Journal of Allergy and Clinical Immunology, vol.135, issue.2, pp.561-564, 2015.
DOI : 10.1016/j.jaci.2014.07.050

A. Mensa-vilaro, W. Cham, S. Tang, S. Lim, E. González-roca et al., Mosaicism, Arthritis & Rheumatology, vol.95, issue.4, pp.1039-1044, 2016.
DOI : 10.1172/JCI117740

Y. Shinar, T. Tohami, A. Livneh, G. Schiby, A. Hirshberg et al., Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis, Orphanet Journal of Rare Diseases, vol.63, issue.11, p.86, 2015.
DOI : 10.1002/art.30512

D. Verma, E. Särndahl, H. Andersson, P. Eriksson, M. Fredrikson et al., The Q705K Polymorphism in NLRP3 Is a Gain-of-Function Alteration Leading to Excessive Interleukin-1?? and IL-18 Production, PLoS ONE, vol.38, issue.4, p.34977, 2012.
DOI : 10.1371/journal.pone.0034977.g003

N. Rieber, A. Gavrilov, L. Hofer, A. Singh, H. Öz et al., A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants, Clinical Immunology, vol.157, issue.1, pp.56-64, 2015.
DOI : 10.1016/j.clim.2015.01.003

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4597079

I. Touitou, S. Lesage, M. Mcdermott, L. Cuisset, H. Hoffman et al., Infevers: An evolving mutation database for auto-inflammatory syndromes, Human Mutation, vol.11, issue.3, pp.194-198, 2004.
DOI : 10.1002/humu.20080

D. Rowczenio, H. Trojer, E. Omoyinmi, J. Aróstegui, G. Arakelov et al., Deletion, Arthritis & Rheumatology, vol.136, issue.8, pp.2044-2049, 2016.
DOI : 10.1016/j.jaci.2014.12.1941

Y. Liu, A. Jesus, B. Marrero, D. Yang, S. Ramsey et al., Activated STING in a Vascular and Pulmonary Syndrome, New England Journal of Medicine, vol.371, issue.6, pp.507-518, 2014.
DOI : 10.1056/NEJMoa1312625

URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4174543

M. Rodero, M. Frémond, G. Rice, B. Neven, and Y. Crow, JAK inhibition in STING-associated interferonopathy, Annals of the Rheumatic Diseases, vol.75, issue.12, pp.75-124, 2016.
DOI : 10.1056/NEJMoa1312625

A. Simon, B. Asli, M. Braun-falco, D. Koning, H. Fermand et al., Schnitzler's syndrome: diagnosis, treatment, and follow-up, Allergy, vol.129, issue.5 Suppl, pp.562-568, 2013.
DOI : 10.1016/j.jaci.2011.10.031

URL : http://onlinelibrary.wiley.com/doi/10.1111/all.12129/pdf

Y. Kashiwagi, H. Kawashima, S. Nishimata, R. Nagao, K. Watanabe et al., Extreme efficiency of anti-interleukin 1 agent (anakinra) in a Japanese case of CINCA syndrome, Clinical Rheumatology, vol.54, issue.7, pp.277-279, 2008.
DOI : 10.1007/s10067-007-0734-7

K. Murphy, Janeway's Immunobiology, 9ième édition, Garland Science, issue.1, p.855, 2016.

J. Sibilia, Comment d??finir et??classer les??maladies inflammatoires?, Revue du Rhumatisme, vol.74, issue.8, pp.714-725, 2007.
DOI : 10.1016/j.rhum.2007.07.003

. Vidal, Disponible sur: https://www.vidal.fr/Medicament/ilaris-110375.htm, p.124