Listing References

Title Description
1

Kastner, D. L. (2005). Hereditary periodic fever syndromes. ASH Education Program Book, 2005(1), 74-81. doi: 10.1182/asheducation-2005.1.74.

2

Hoffman, H. M., Mueller, J. L., Broide, D. H., Wanderer, A. A., & Kolodner, R. D. (2001). Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome. Nature genetics, 29(3), 301-305. doi: 10.1038/ng756.

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Kilcline, C., Shinkai, K., Bree, A., Modica, R., Von Scheven, E., & Frieden, I. J. (2005). Neonatal-onset multisystem inflammatory disorder: the emerging role of pyrin genes in autoinflammatory diseases. Archives of dermatology, 141(2), 248. doi: 10.1001/archderm.141.2.248.

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Cuisset, L., Drenth, J. P., Berthelot, J. M., Meyrier, A., Vaudour, G., Watts, R. A., ... & Grateau, G. (1999). Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. The American Journal of Human Genetics, 65(4), 1054-1059.doi: 10.1086/302589.

6

Goldbach-Mansky, R., Dailey, N. J., Canna, S. W., Gelabert, A., Jones, J., Rubin, B. I., ... & Kastner, D. L. (2006). Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition. New England Journal of Medicine, 355(6), 581-592. doi: 10.1056/NEJMoa055137.

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Drenth, J. P., & Van der Meer, J. W. (2006). The Inflammasome — A Linebacker of Innate Defense. New England Journal of Medicine, 355(7), 730-732. doi: 10.1056/NEJMcibr063500.

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Izawa, K., Hijikata, A., Tanaka, N., Kawai, T., Saito, M. K., et al. ( 2012) Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing. DNA Res. 19, 143–152. doi: 10.1093/dnares/dsr047.

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Hoffman, H. M., & Simon, A. (2009). Recurrent febrile syndromes—what a rheumatologist needs to know. Nature Reviews Rheumatology, 5(5), 249-256. doi: 10.1038/nrrheum.2009.40.

10

Park, H., Bourla, A. B., Kastner, D. L., Colbert, R. A., & Siegel, R. M. (2012). Lighting the fires within: the cell biology of autoinflammatory diseases. Nature Reviews Immunology, 12(8), 570-580. doi: 10.1038/nri3261.

11

Haas D, Hoffmann GF: Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis 2006, 1:13. doi: 10.1186/1750-1172-1-13.

12

Eurofever Project - The Eurofever Survey. (2009, December 17). Eurofever Project.

13

de Koning HD, Bodar EJ, van der Meer JW, Simon A (2007) Schnitzler syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum 37: 137–148. doi: 10.1016/j.semarthrit.2007.04.001.

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Lipsker, D. (2010). The Schnitzler syndrome. Orphanet J Rare Dis, 5(38), 20. doi: 10.1186/1750-1172-5-38.

15

Minkis, K., Aksentijevich, I., Goldbach-Mansky, R., Magro, C., Scott, R., Davis, J. G., ... & Herzog, R. (2012). Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis. Archives of dermatology, archdermatol-2011. doi: 10.1001/archdermatol.2011.3208.

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Aksentijevich, I., Masters, S. L., Ferguson, P. J., Dancey, P., Frenkel, J., van Royen-Kerkhoff, A., ... & Goldbach-Mansky, R. (2009). An autoinflammatory disease with deficiency of the interleukin-1–receptor antagonist. New England Journal of Medicine, 360(23), 2426-2437. doi: 10.1056/NEJMoa0807865

17

Dyall-Smith, D. (2013, January 14). DermNet NZ. Deficiency of the Interleukin-1 Receptor Antagonist (DIRA). Retrieved April 28, 2013, from http://dermnetnz.org/systemic/dira.html

18

El-Shanti H, Ferguson P. Majeed Syndrome. 2008 Sep 23 [Updated 2013 Mar 14]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.http://www.ncbi.nlm.nih.gov/books/NBK1974/

19

Bonetumor.org. (n.d.). Chronic Recurrent Multifocal Osteomyelitis (CRMO). Retrieved from http://www.bonetumor.org/tumors-unknown-type/chronic-recurrent-multifocal-osteomyelitis-crmo

20

Guérin-Pfyffer, S., Guillaume-Czitrom, S., Tammam, S., & Koné-Paut, I. (2012). Evaluation of chronic recurrent multifocal osteitis in children by whole-body magnetic resonance imaging. Joint Bone Spine, 79(6), 616-620. doi: 10.1016/j.jbspin.2011.12.001.

3

Rosengren, S., Mueller, J., Anderson, J., Niehaus, B., Misaghi, A., Anderson, S., ... Hoffman, H. (2007). Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. Journal of Allergy and Clinical Immunology, 119(4), 991-996. doi: 10.1016/j.jaci.2006.12.649.

21

Quon, J. S., Dzus, A. K., & Leswick, D. A. (2012). Case Study: Chronic Recurrent Multifocal Osteomyelitis in the Femoral Diaphysis of a Young Female. Case Reports in Radiology, 2012, 515761. doi:10.1155/2012/515761

22

Catalano-Pons, C., Comte, A., Wipff, J., Quartier, P., Faye, A., Gendrel, D., ... & Job-Deslandre, C. (2008). Clinical outcome in children with chronic recurrent multifocal osteomyelitis. Rheumatology, 47(9), 1397-1399. doi: 10.1093/rheumatology/ken249

23

Habal, Nadia, Chen, Yongqing, Jordan, Catherine, Liu, Yin, Neal, Dawn C. Chapelle, Stone, Deborah, et al; Pathogenesis Study of Infantile-Onset, Severe Pustular Psoriasis Reveals a De Novo Mutation in CARD14 Causing Psoriasis Which Responds Clinically to IL-12/23 Blocking Treatment with Ustekinumab. [abstract]. Arthritis Rheum 2011;63 Suppl 10 :310. Retrieved April 19, 2013 from:http://www.blackwellpublishing.com/acrmeeting/abstract.asp?MeetingID=781&id=95060

24

Jordan, C. T., Cao, L., Roberson, E. D., Pierson, K. C., Yang, C. F., Joyce, C. E., ... & Bowcock, A. M. (2012). PSORS2 is due to mutations in CARD14. American journal of human genetics, 90(5), 784. doi: 10.1016/j.ajhg.2012.03.012.

25

Ngan, V. (2011, June 29). DermNet NZ. Still’s disease. Retrieved April 28, 2013, from http://dermnetnz.org/immune/stills.html

26

Goldbach-Mansky, R. (2012). Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1. Clinical & Experimental Immunology, 167(3), 391-404. doi: 10.1111/j.1365-2249.2011.04533.x.

27

Liu, Y., Ramot, Y., Torrelo, A., Paller, A. S., Si, N., Babay, S., ... & Zlotogorski, A. (2012). Mutations in proteasome subunit ß type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis & Rheumatism, 64(3), 895-907. doi:10.1002/art.33368.

28

Wise, C. A., Gillum, J. D., Seidman, C. E., Lindor, N. M., Veile, R., Bashiardes, S., & Lovett, M. (2002). Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Human Molecular Genetics, 11(8), 961-969. doi:10.1093/hmg/11.8.961.

29

Yeon, H. B., Lindor, N. M., Seidman, J. G., & Seidman, C. E. (2000). Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. American journal of human genetics, 66(4), 1443. doi: 10.1086/302866.

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Touitou, I. (2006, October). Pyogenic arthritis - pyoderma gangrenosum - acne. Orphanet. Retrieved April 19, 2013, from: http://www.orpha.net/consor/cgi-bin/DiseaseSearch.php?lng=EN&dataid=10924&DiseaseDiseaseSearchdiseaseGroup=PAPA&DiseaseDiseaseSearchdiseaseType=Pat&Disease%28s%29/group%20of%20diseases=Pyogenic-arthritis---pyoderma-gangrenosum---acne--PAPA-syndrome-&title=Pyogenic-arthritis---pyoderma-gangrenosum---acne--PAPA-syndrome-&search=DiseaseSearchSimple

31

Schellevis, M. A., Stoffels, M., Hoppenreijs, E. P., Bodar, E., Simon, A., & van der Meer, J. W. (2011). Variable expression and treatment of PAPA syndrome. Annals of the rheumatic diseases, 70(6), 1168-1170. doi:10.1136/ard.2009.126185.

32

Printo.it PAPA Syndrome. (2009). Retrieved from: http://www.printo.it/pediatric-rheumatology/information/UK/13_9.htm

33

Barron, Karyl S., Ombrello, Amanda K., Goldsmith, Donald P., Aksentijevich, Ivona, Jones, Anne, Barham, Beverly K., et al; The Clinical Significance of a Single MVK Mutation in HIDS. [abstract]. Arthritis Rheum 2010;62 Suppl 10 :2105. doi: 10.1002/art.29870/

34

Rosé, C. D., Aróstegui, J. I., Martin, T. M., Espada, G., Scalzi, L., Yagüe, J., ... & Wouters, C. H. (2009). NOD2-Associated pediatric granulomatous arthritis, an expanding phenotype: Study of an international registry and a national cohort in spain. Arthritis & Rheumatism, 60(6), 1797-1803. doi: 10.1002/art.24533.

35

Emaminia, A., Nia, A. E., Nabavi, M., Nasab, M. M., & Kashef, S. (2007). Central nervous system involvement in Blau syndrome: a new feature of the syndrome?. The Journal of Rheumatology, 34(12), 2504-2505. Retrieved from: http://www.jrheum.com/subscribers/07/12/2504.html

36

Glass 2nd, D. A., Maender, J., & Metry, D. (2009). Two pediatric cases of Blau syndrome. Dermatol Online J, 15(5). Retrieved from: http://dermatology.cdlib.org/1512/articles/blau/glass.html

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Jha, S., & Ting, J. P. Y. (2009). Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases. The Journal of Immunology, 183(12), 7623-7629. doi:10.4049/jimmunol.0902425.

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Jéru, I., Hentgen, V., Normand, S., Duquesnoy, P., Cochet, E., Delwail, A., Grateau, G., Marlin, S., Amselem, S. and Lecron, J.-C. (2011), Role of interleukin-1ß in NLRP12-associated autoinflammatory disorders and resistance to anti–interleukin-1 therapy. Arthritis & Rheumatism, 63: 2142–2148. doi: 10.1002/art.30378

39

Jéru, I., Le Borgne, G., Cochet, E., Hayrapetyan, H., Duquesnoy, P., Grateau, G., Morali, A., Sarkisian, T. and Amselem, S. (2011), Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis & Rheumatism, 63: 1459–1464. doi: 10.1002/art.30241.

40

Hashkes, P. (2013, March). Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome (PFAPA) (Juvenile). American College of Rheumatology Patient Resources: PFAPA. Retrieved April 28, 2013, from http://www.rheumatology.org/practice/clinical/patients/diseasesandconditions/pfapa.asp

41

Gattorno, M., Caorsi, R., Meini, A., Cattalini, M., Federici, S., Zulian, F., ... & Martini, A. (2009). Differentiating PFAPA syndrome from monogenic periodic fevers. Pediatrics, 124(4), e721-e728. doi: 10.1542/peds.2009-0088.

42

National Institutes of Health (NIH), National Human Genome Research Institute. (2013, January 6). Genetic mystery of Behcet’s disease unfolds along the ancient Silk Road, January 6, 2013 News Release - National Institutes of Health (NIH) [Press release]. Retrieved from: http://www.nih.gov/news/health/jan2013/nhgri-06.htm

43

Saadoun, D., & Wechsler, B. (2012). Behcet’s disease. Orphanet J Rare Dis, 7(1), 20. doi:10.1186/1750-1172-7-20.

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Efthimiou, P., Paik, P. K., & Bielory, L. (2006). Diagnosis and management of adult onset Still’s disease. Annals of the Rheumatic Diseases, 65(5), 564–572. doi:10.1136/ard.2005.042143.

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Schneider, R., & . Laxer, R. M. (2012, May). Systemic Juvenile Idiopathic Arthritis. The Rheumatologist. Retrieved http://www.the-rheumatologist.org/details/article/2041587/SystemicJuvenileIdiopathic_Arthritis.html

46

Gurion, R., Lehman, T. J. A., & Moorthy, L. N. (2011). Systemic arthritis in children: A review of clinical presentation and treatment. International journal of inflammation, 2012. doi:10.1155/2012/271569

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Zhang K, Filipovich AH, Johnson J, et al. Hemophagocytic Lymphohistiocytosis, Familial. 2006 Mar 22 [Updated 2013 Jan 17]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1444/

48

U.S National Library of Medicine. Familial hemophagocytic lymphohistiocytosis. (2013, April 29). Genetics Home Reference. Retrieved from http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis

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Gholam, C., Grigoriadou, S., Gilmour, K. C., & Gaspar, H. B. (2011). Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management. Clinical & Experimental Immunology, 163(3), 271-283. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048610/

50

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EMA Committee for Orphan Medicinal Products. Public summary of opinion on orphan designation Canakinumab for the treatment of tumour necrosis factor receptor-associated periodic syndrome (Rep. No. EMA/COMP/663189/2012). (n.d.). Retrieved April 18, 2013, from http://www.ema.europa.eu/docs/enGB/documentlibrary/Orphan_designation/2012/12/WC500136400.pdf

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U.S National Library of Medicine. Tumor necrosis factor receptor-associated periodic syndrome. (2013, April 22). Genetics Home Reference. Retrieved from http://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome

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Herlin, T., Fiirgaard, B., Bjerre, M., Kerndrup, G., Hasle, H., Bing, X., & Ferguson, P. J. (2013). Efficacy of anti-IL-1 treatment in Majeed syndrome. Annals of the rheumatic diseases, 72(3), 410-413. doi: 10.1136/annrheumdis-2012-201818.

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Ferguson, P. J., & Sandu, M. (2012). Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis. Current rheumatology reports, 14(2), 130-141. doi: I 10.1007/s11926-012-0239-5.

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Cuisset, L., Jeru, I., Dumont, B., Fabre, A., Cochet, E., Le Bozec, J., ... & Touitou, I. (2011). 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, 70(3), 495-499. doi: 10.1136/ard.2010.138420

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Lachmann, H. J. (2011). Clinical immunology review series: an approach to the patient with a periodic fever syndrome. Clinical & Experimental Immunology, 165(3), 301-309. doi: 10.1111/j.1365-2249.2011.04438.x.

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Marrakchi S, Guigue P, Renshaw BR et al. Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med . 2011; 365:620–8. doi: 10.1056/NEJMoa1013068.

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Aksentijevitch, I. Session 4 : Monogenic autoinflammatory diseases: Immunoproteosome. (Lecture & slides about CANDLE genetics). 7th Congress of ISSAID, International Society of Systemic Auto-Inflammatory Diseases. University Hospital of Lausanne (CHUV) Switzerland. Thursday May 23, 2013. No link available at this time.

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Lewandowski, L.B., Scott, C. Poster Session [2902.20]: Allergy & Immunology & Rheumatology. 2013 PAS/ASPN Annual Meeting. Sunday, May 5, 2013. Hall D/E - Walter E. Washington Convention Center, Washington DC. Link is no longer available for this poster.

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Onoufriadis A, Simpson MA, Pink AE et al. Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. Am J Hum Genet. 2011; 89:432–7. doi: 10.1016/j.ajhg.2011.07.022.

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Rossi-Semerano L, Piram M, Chiaverini C, De Ricaud D, Smahi A, Koné-Paut I. First Clinical Description of an Infant With Interleukin-36-Receptor Antagonist Deficiency Successfully Treated With Anakinra. Pediatrics. 2013 Oct;132(4):e1043-e1047. Epub 2013 Sep 9. doi: 10.1542/peds.2012-3935.

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Kniffin, C. #614468 Familial Cold Autoinflammatory Syndrome 3; FCAS3 Online Mendelian Inheritance in Man (OMIM). Retrieved on October 10-14, 2013 from: http://omim.org/entry/614878

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Ombrello, M.J. et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N. Engl. J. Med. 366, 330–338 (2012). doi: 10.1056/NEJMoa1102140.

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Almeida de Jesus A, Goldbach-Mansky R. Monogenic autoinflammatory diseases: concept and clinical manifestations. Clin Immunol. 2013 Jun;147(3):155-74. doi: 10.1016/j.clim.2013.03.016..

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Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cy2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006.

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Mutlu, G. Y., Ramot, Y., Babaoglu, K., Altun, G., Zlotogorski, A. and Molho-Pessach, V. (2013), Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC29A3 Mutation. Pediatric Dermatology, 30: e70–e73. doi: 10.1111/pde.12085.

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Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, Nibbeling E, Kamsteeg EJ, Wong M, Prendiville J, James C, Padidela R, Becknell C, van Bokhoven H, Deen PM, Hennekam RC, Lindeman R, Schenck A, Roscioli T, Buckley MF. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet. 2009 Jun 15;18(12):2257-65. doi: 10.1093/hmg/ddp161. This is the supplement to the article

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Kastner, D. In Search of Our Inner Zebras: Exome Sequencing Unveils DADA2, a New Autoinflammatory Disease. NHGRI. Poster SD-10 NIH research Festival. Scientific Directors Poster Session. NIH Research Festival 2013. pg 11.

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Qing Zhou. Intermittent Fever, Immune Dysregulation, and Systemic Vasculopathy Due To Loss-Of-Function Mutations In Adenosine Deaminase2. Abstract#: 894 American College of Rheumatology Annual Meeting Sunday, October 27, 2013. San Diego, CA. Accessed from: https://ww2.rheumatology.org/apps/MyAnnualMeeting/ExploreMeeting/AbstractDetail?abstractId=3712

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H. D. De Koning, H. D. ,Schalkwijk, J., van der Meer, J. W., Zeeuwen, P. L., Neveling, K., van Gijn M., Simon, A. NLRP3 genetic variants in Schnitzler’s Syndrome. Non-monogenic AIDs. ISSAID13-1089. 7th Congress of ISSAID, International Society of Systemic Auto-Inflammatory Diseases. University Hospital of Lausanne (CHUV) Switzerland. Access from: http://www.ped-rheum.com/content/11/S1/A233

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Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, Richer O, Farber CM, Fischbach M, Hentgen V, Jego P, Laroche C, Neven B, Lequerré T, Mathian A, Pellier I, Touitou I, Rabier D, Prieur AM, Cuisset L, Quartier P; SOFREMIP (Société Francophone pour la Rhumatologie et les Maladies Inflammatoires en Pédiatrie); CRI (Club Rhumatismes et Inflammations). Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics. 2011 Jul;128(1):e152-9. doi: 10.1542/peds.2010-3639. Epub 2011 Jun 27. http://pediatrics.aappublications.org/content/128/1/e152.long

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Kim, H., Montealegre Sanchez, G. A., Chapelle, D. C., Plass, N., Dwyer, A., Goldbach-Mansky, R. and Hill, S. (2014), A80: Skeletal Features of Neonatal-Onset Multisystem Inflammatory Disease (NOMID) on Anakinra Treatment: Long-Term Follow-up. Arthritis & Rheumatology, 66: S113. doi: 10.1002/art.38496.

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Mohd Zaki, F., Sridharan, R., Sook Pei, T., Swee Ping, T., & Ibrahim, S. (2012). NOMID: The radiographic and MRI features and review of literature. Journal Of Radiology Case Reports, 6(3). Retrieved April 2, 2015, from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370707/

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Hedrich CM, Hofmann SR, Pablik J, et al. Autoinflammatory bone disorders with special focus on chronic recurrent multifocal osteomyelitis (CRMO) Pediatr Rheumatol Online J. 2013;11(1):47. doi:10.1186/1546-0096-11-47.

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Liu, Y., Jesus, A. A., Marrero, B., Yang, D., Ramsey, S. E., Sanchez, G. A. M., … Goldbach-Mansky, R. (2014). Activated STING in a Vascular and Pulmonary Syndrome. The New England Journal of Medicine, 371(6), 507–518. doi:10.1056/NEJMoa1312625.

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Standing, A., Eleftheriou, D., Omoyinmi, E., Chieng, A., Klein, N., Lachmann, H., Hawkins, P., Gilmour, K. & Brogan, P. (2012) A Novel Mutation in the X-Linked Inhibitor of Apoptosis Protein Causing a Multi-System Autoinflammatory Disorder. Annals of Paediatric Rheumatology, 1 (4), 227-230. doi:10.5455/apr.012920120432

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Rezaei, N., Mahmoudi, E., Aghamohammadi, A., Das, R. and Nichols, K. E. (2011), X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma. British Journal of Haematology, 152: 13–30. doi: 10.1111/j.1365-2141.2010.08442.x

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Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R., McClimon, B., Jordan, M. B., … Filipovich, A. H. (2010). XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood, 116(7), 1079–1082. doi:10.1182/blood-2010-01-256099.

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Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, et al. X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol. 2013;149(1):133–41. doi: 10.1016/j.clim.2013.07.004.

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Schmid, J. P., Canioni, D., Moshous, D., Touzot, F., Mahlaoui, N., Hauck, F., Kanegane, H., et al. (2011). Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood, 117(5), 1522–1529. doi: 10.1182/blood-2010-07-298372.

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Wiseman DH, May A, Jolles S, et al. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013;122(1): 112-123. doi: 10.1182/blood-2012-08-439083.

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