D. Kastner, I. Aksentijevich, and R. Goldbach-mansky, Autoinflammatory Disease Reloaded: A Clinical Perspective, Cell, vol.140, issue.6, pp.784-790, 2010.
DOI : 10.1016/j.cell.2010.03.002

. Theinternationalfmfconsortium, Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever, Cell, vol.90, issue.4, pp.797-807, 1997.
DOI : 10.1016/S0092-8674(00)80539-5

C. Conforti-andreoni, P. Ricciardi-castagnoli, and A. Mortellaro, The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond, Cellular and Molecular Immunology, vol.9, issue.2, pp.135-145, 2011.
DOI : 10.1038/cmi.2010.81

K. Schroder and J. Tschopp, The Inflammasomes, Cell, vol.140, issue.6, pp.821-832, 2010.
DOI : 10.1016/j.cell.2010.01.040

I. Jeru and S. Amselem, Inflammasome et interleukine 1, La Revue de M??decine Interne, vol.32, issue.4, pp.218-224, 2010.
DOI : 10.1016/j.revmed.2010.02.013

T. Haar, N. Lachmann, H. Ozen, S. Woo, P. Uziel et al., Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review, Ann Rheum Dis, vol.2013, issue.725, pp.678-685, 2012.

F. Milhavet, L. Cuisset, H. Hoffman, R. Slim, H. El-shanti et al., The infevers autoinflammatory mutation online registry: update with new genes and functions, Human Mutation, vol.4, issue.6, pp.803-808, 2008.
DOI : 10.1002/humu.20720

URL : https://hal.archives-ouvertes.fr/hal-00287920

D. Jesus, J. Imane, Z. Senee, V. Romero, S. Guillausseau et al., SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis, Diabetes & Metabolism, vol.39, issue.3, pp.281-285, 2013.
DOI : 10.1016/j.diabet.2013.03.007

I. Melki, K. Lambot, L. Jonard, V. Couloigner, P. Quartier et al., Mutation in the SLC29A3 Gene: A New Cause of a Monogenic, Autoinflammatory Condition, PEDIATRICS, vol.131, issue.4, pp.1308-1313, 2013.
DOI : 10.1542/peds.2012-2255

S. Mohanan, L. Chandrashekar, R. Semple, D. Thappa, N. Rajesh et al., gene, International Journal of Dermatology, vol.3, issue.7, pp.820-823, 2013.
DOI : 10.1111/j.1365-4632.2012.05838.x

S. Senniappan, M. Hughes, P. Shah, V. Shah, J. Kaski et al., Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome, Journal of Pediatric Endocrinology and Metabolism, vol.26, issue.9-10, 2013.
DOI : 10.1515/jpem-2013-0062

Q. Zhou, G. Lee, J. Brady, S. Datta, M. Katan et al., A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase C??2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency, The American Journal of Human Genetics, vol.91, issue.4, pp.713-720, 2012.
DOI : 10.1016/j.ajhg.2012.08.006

B. Boisson, E. Laplantine, C. Prando, S. Giliani, E. Israelsson et al., Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency, Nature Immunology, vol.7, issue.12, pp.1178-1186, 2012.
DOI : 10.1016/j.immuni.2008.05.012

I. Jeru, L. Borgne, G. Cochet, E. Hayrapetyan, H. Duquesnoy et al., Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes, Arthritis & Rheumatism, vol.68, issue.Suppl 13, pp.1459-1464, 2012.
DOI : 10.1002/art.30241

S. Borghini, S. Tassi, S. Chiesa, F. Caroli, S. Carta et al., Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation, Arthritis & Rheumatism, vol.27, issue.3, pp.830-839, 2011.
DOI : 10.1002/art.30170

I. Jeru, P. Duquesnoy, T. Fernandes-alnemri, E. Cochet, J. Yu et al., Mutations in NALP12 cause hereditary periodic fever syndromes, Proceedings of the National Academy of Sciences, vol.105, issue.5, pp.1614-1619, 2008.
DOI : 10.1073/pnas.0708616105

I. Jeru, V. Hentgen, N. S. Duquesnoy, P. Cochet, E. Delwail et al., Role of interleukin-1?? in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy, Arthritis & Rheumatism, vol.48, issue.7, pp.2142-2148, 2011.
DOI : 10.1002/art.30378

I. Allen, J. Wilson, M. Schneider, J. Lich, R. Roberts et al., NLRP12 Suppresses Colon Inflammation and Tumorigenesis through the Negative Regulation of Noncanonical NF-??B Signaling, Immunity, vol.36, issue.5, pp.742-754, 2012.
DOI : 10.1016/j.immuni.2012.03.012

M. Zaki, P. Vogel, R. Malireddi, M. Body-malapel, P. Anand et al., The NOD-Like Receptor NLRP12 Attenuates Colon Inflammation and Tumorigenesis, Cancer Cell, vol.20, issue.5, pp.649-660, 2011.
DOI : 10.1016/j.ccr.2011.10.022

I. Aksentijevich, S. Masters, P. Ferguson, P. Dancey, J. Frenkel et al., An Autoinflammatory Disease with Deficiency of the Interleukin-1???Receptor Antagonist, New England Journal of Medicine, vol.360, issue.23, pp.2426-2437, 2009.
DOI : 10.1056/NEJMoa0807865

E. Altiok, F. Aksoy, Y. Perk, F. Taylan, P. Kim et al., A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset, Clinical Immunology, vol.145, issue.1, pp.77-81, 2012.
DOI : 10.1016/j.clim.2012.08.003

S. Reddy, S. Jia, R. Geoffrey, R. Lorier, M. Suchi et al., Locus, New England Journal of Medicine, vol.360, issue.23, pp.2438-2444, 2009.
DOI : 10.1056/NEJMoa0809568

A. Jesus, M. Osman, C. Silva, P. Kim, T. Pham et al., A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: Description of two unrelated cases from Brazil, Arthritis & Rheumatism, vol.62, issue.12, pp.4007-4017, 2011.
DOI : 10.1002/art.30588

M. Stenerson, K. Dufendach, I. Aksentijevich, J. Brady, J. Austin et al., The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist, Arthritis & Rheumatism, vol.5, issue.12, pp.4018-4022, 2011.
DOI : 10.1002/art.30565

K. Minkis, I. Aksentijevich, R. Goldbach-mansky, C. Magro, R. Scott et al., Interleukin 1 Receptor Antagonist Deficiency Presenting as Infantile Pustulosis Mimicking Infantile Pustular Psoriasis, Archives of Dermatology, vol.148, issue.6, pp.747-752, 2012.
DOI : 10.1001/archdermatol.2011.3208

C. Schnellbacher, G. Ciocca, R. Menendez, I. Aksentijevich, R. Goldbach-mansky et al., Deficiency of Interleukin-1 Receptor Antagonist Responsive to Anakinra, Pediatric Dermatology, vol.30, issue.6, 2012.
DOI : 10.1111/j.1525-1470.2012.01725.x

C. Brau-javier, J. Gonzales-chavez, and J. Toro, Chronic Cutaneous Pustulosis Due to a 175-kb Deletion on Chromosome 2q13, Archives of Dermatology, vol.148, issue.3, pp.301-304, 2012.
DOI : 10.1001/archdermatol.2011.2857

S. Marrakchi, P. Guigue, B. Renshaw, A. Puel, X. Pei et al., Interleukin-36???Receptor Antagonist Deficiency and Generalized Pustular Psoriasis, New England Journal of Medicine, vol.365, issue.7, pp.620-628, 2011.
DOI : 10.1056/NEJMoa1013068

L. Rossi-semerano, M. Piram, C. Chiaverini, D. Ricaud, D. Smahi et al., Kone-Paut I: First Clinical Description of an Infant With Interleukin-36-Receptor Antagonist Deficiency Successfully Treated With Anakinra, Pediatrics, vol.2013, issue.1324, pp.1043-1047, 2009.

A. Onoufriadis, M. Simpson, A. Pink, D. Meglio, P. Smith et al., Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis, The American Journal of Human Genetics, vol.89, issue.3, pp.432-437, 2011.
DOI : 10.1016/j.ajhg.2011.07.022

K. Sugiura, T. Takeichi, M. Kono, Y. Ogawa, Y. Shimoyama et al., A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis, British Journal of Dermatology, vol.204, issue.3, pp.699-701, 2012.
DOI : 10.1111/j.1365-2133.2012.10953.x

M. Farooq, H. Nakai, A. Fujimoto, H. Fujikawa, A. Matsuyama et al., Gene in 14 Japanese Patients with Generalized Pustular Psoriasis, Human Mutation, vol.279, issue.1, pp.176-183, 2013.
DOI : 10.1002/humu.22203

A. Korber, R. Mossner, R. Renner, H. Sticht, D. Wilsmann-theis et al., Mutations in IL36RN in Patients with Generalized Pustular Psoriasis, Journal of Investigative Dermatology, vol.133, issue.11, 2013.
DOI : 10.1038/jid.2013.214

A. Navarini, L. Valeyrie-allanore, N. Setta-kaffetzi, J. Barker, F. Capon et al., Rare Variations in IL36RN in Severe Adverse Drug Reactions Manifesting as Acute Generalized Exanthematous Pustulosis, Journal of Investigative Dermatology, vol.133, issue.7, pp.1904-1907, 2013.
DOI : 10.1038/jid.2013.44

M. Fung and K. Barr, Current Knowledge in Inflammatory Dermatopathology, Dermatologic Clinics, vol.30, issue.4, pp.667-684, 2012.
DOI : 10.1016/j.det.2012.06.004

W. Griffiths, Pityriasis rubra pilaris: The problem of its classification, Journal of the American Academy of Dermatology, vol.26, issue.1, pp.140-142, 1992.
DOI : 10.1016/S0190-9622(08)80543-9

L. Tsoi, S. Spain, J. Knight, E. Ellinghaus, P. Stuart et al., Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity, Nature Genetics, vol.177, issue.12, pp.1341-1348, 2012.
DOI : 10.1038/ng1333

M. Ammar, C. Bouchlaka-souissi, I. Zaraa, C. Helms, N. Doss et al., Family-based association study in Tunisian familial psoriasis, International Journal of Dermatology, vol.41, issue.11, pp.1329-1334, 2012.
DOI : 10.1111/j.1365-4632.2012.05523.x

D. Fuchs-telem, O. Sarig, V. Steensel, M. Isakov, O. Israeli et al., Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14, The American Journal of Human Genetics, vol.91, issue.1, pp.163-170, 2012.
DOI : 10.1016/j.ajhg.2012.05.010

M. Chernosky, Porokeratosis: Report of Twelve Patients with Multiple Superficial Lesions, Southern Medical Journal, vol.59, issue.3, pp.289-294, 1966.
DOI : 10.1097/00007611-196603000-00011

P. Rouhani, M. Fischer, S. Meehan, and M. Pomeranz, Disseminated superficial actinic porokeratosis, Dermatol Online J, vol.18, p.24, 2012.

H. Skupsky, J. Skupsky, and G. Goldenberg, Disseminated superficial actinic porokeratosis: A treatment review, Journal of Dermatological Treatment, vol.199, issue.1, pp.52-56, 2012.
DOI : 10.1002/lsm.20310

S. Kaur, G. Thami, H. Mohan, and A. Kanwar, Co-Existence of Variants of Porokeratosis: A Case Report and a Review of the Literature, The Journal of Dermatology, vol.39, issue.5, pp.305-309, 2002.
DOI : 10.1111/j.1346-8138.2002.tb00268.x

Y. Zhou, J. Liu, X. Fu, Y. Yu, B. Shi et al., Identification of three novel frameshift mutations of the MVK gene in four Chinese families with disseminated superficial actinic porokeratosis

S. Zhang, T. Jiang, M. Li, X. Zhang, Y. Ren et al., Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis, Nature Genetics, vol.73, issue.10, pp.1156-1160, 2012.
DOI : 10.1101/gr.107524.110

B. Schafer, R. Bishop, V. Kratunis, S. Kalinowski, S. Mosley et al., Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria, J Biol Chem, vol.267, pp.13229-13238, 1992.

J. Drenth, L. Cuisset, G. Grateau, C. Vasseur, S. Van-de-velde-visser et al., Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group, Nat Genet, vol.22, pp.178-181, 1999.

S. Houten, W. Kuis, M. Duran, D. Koning, T. Van-royen-kerkhof et al., Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome, Nat Genet, vol.22, pp.175-177, 1999.

K. Arima, A. Kinoshita, H. Mishima, N. Kanazawa, T. Kaneko et al., Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome, Proceedings of the National Academy of Sciences, vol.108, issue.36, pp.14914-14919, 2011.
DOI : 10.1073/pnas.1106015108

Y. Liu, Y. Ramot, A. Torrelo, A. Paller, N. Si et al., Mutations in proteasome subunit ?? type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity, Arthritis & Rheumatism, vol.89, issue.3, pp.895-907, 2012.
DOI : 10.1002/art.33368

A. Agarwal, C. Xing, G. Demartino, D. Mizrachi, M. Hernandez et al., PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

N. Kanazawa, Nakajo-Nishimura Syndrome: An Autoinflammatory Disorder Showing Pernio-Like Rashes and Progressive Partial Lipodystrophy, Allergology International, vol.61, issue.2, pp.197-206, 2012.
DOI : 10.2332/allergolint.11-RAI-0416

URL : http://doi.org/10.2332/allergolint.11-rai-0416

M. Mcdermott, I. Aksentijevich, J. Galon, E. Mcdermott, B. Ogunkolade et al., Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes, Cell, vol.97, issue.1, pp.133-144, 1999.
DOI : 10.1016/S0092-8674(00)80721-7

N. Toplak, J. Frenkel, S. Ozen, H. Lachmann, P. Woo et al., An International registry on Autoinflammatory diseases: the Eurofever experience, Annals of the Rheumatic Diseases, vol.71, issue.7, pp.1177-1182, 2012.
DOI : 10.1136/annrheumdis-2011-200549

S. Ozen, J. Frenkel, R. N. Gattorno, and M. , The Eurofever Project: towards better care for autoinflammatory diseases, European Journal of Pediatrics, vol.62, issue.4, pp.445-452, 2011.
DOI : 10.1007/s00431-011-1411-z