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About Us
Learn More
Get Involved
- Studies
- Patient Advocacy
Healthcare Professionals
News & Events
Contact Us

Participating Clinical Centers

Learn More > Participating Clinical Centers

United States

Institution	City, State	Studies
University of Nebraska Medical Center	Omaha, Nebraska	7001, 7003, 7004
Cincinnati Children's Hospital Medical Center (CCHMC)	Cincinnati, Ohio	7001
Oregon Health & Science University	Portland, Oregon	7001
Children's Hospital of Pittsburgh at the University of Pittsburgh Medical Center (CHP, UPMC)	Pittsburgh, Pennsylvania	7001, 7004
National Human Genome Research Institute	Bethesda, MD

University of Nebraska Medical Center - Omaha, Nebraska

Contact Information:

William B. Rizzo, M.D.
Principal Investigator
Phone : 402-559-2560
Email : wrizzo@unmc.edu

Jill Skrabal
Medical Nutrition Specialist
Phone : 402-559-3660
Email : jskrabal@unmc.edu

Rachel Cooper
Study Coordinator
Phone : 402-559-6256
Email : Rachel.Cooper@unmc.edu

Sara Jones
Study Coordinator
Phone : 402-559-2511
Email : SaraM.Jones@unmc.edu

Links:

University of Nebraska Medical Center Department of Pediatrics - Section of Inherited Metabolic Diseases

Publications

Rizzo WB. The role of fatty aldehyde dehydrogenase in epidermal structure and function. Dermatoendocrinol. 2011 Apr;3(2):91-9. Epub 2011 Apr 1. PubMed PMID:21695018.
Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB. Large contiguous gene deletions in Sjögren-Larsson syndrome. Mol Genet Metab. 2011 May 30. [Epub ahead of print] PubMed PMID: 21684788.
Milstone LM, Rizzo WB, Pickford JR. Meeting report from Frontiers in Ichthyosis Research. J Invest Dermatol. 2011 Feb;131(2):279-82. PubMed PMID:21228807.
Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM. Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. Arch Dermatol Res. 2010 Aug;302(6):443-51. Epub 2010 Jan 5. PubMed PMID: 20049467; PubMed Central PMCID: PMC2892059.
Kompare M, Rizzo WB. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol. 2008 Sep;15(3):140-9. Review. PubMed PMID: 18708005.
Rizzo WB, Craft DA, Somer T, Carney G, Trafrova J, Simon M. Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome. J Lipid Res. 2008 Feb;49(2):410-9. Epub 2007 Oct 30. PubMed PMID :17971613; PubMed Central PMCID: PMC3057183.
Didona B, Codispoti A, Bertini E, Rizzo WB, Carney G, Zambruno G, Dionisi-Vici C, Paradisi M, Pedicelli C, Melino G, Terrinoni A. Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. J Hum Genet. 2007;52(10):865-70. PubMed PMID: 17902024; PubMed Central PMCID: PMC3057174.
Rizzo WB. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab. 2007 Jan;90(1):1-9. Epub 2006 Sep 22. Review. PubMed PMID: 16996289; PubMed Central PMCID: PMC1933507.
Auada MP, Adam RL, Leite NJ, Puzzi MB, Cintra ML, Rizzo WB, Metze K. Texture analysis of the epidermis based on fast Fourier transformation in Sjögren-Larsson syndrome. Anal Quant Cytol Histol. 2006 Aug;28(4):219-27. PubMed PMID: 16927642; PubMed Central PMCID: PMC3058945.
Auada MP, Puzzi MB, Cintra ML, Steiner CE, Alexandrino F, Sartorato EL, Aguiar TS, Azulay RD, Carney G, Rizzo WB. Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene. Br J Dermatol. 2006 Apr;154(4):770-3. PubMed PMID: 16536828; PubMed Central PMCID: PMC3055656.
Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H. Phenotypic variability among adult siblings with Sjögren-Larsson syndrome. Arch Neurol. 2006 Feb;63(2):278-80. PubMed PMID: 16476818; PubMed Central PMCID: PMC3086176.
Rizzo WB, Carney G. Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat. 2005 Jul;26(1):1-10. Review. PubMed PMID: 15931689.
Carney G, Wei S, Rizzo WB. Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2. Hum Mutat. 2004 Aug;24(2):186. PubMed PMID: 15241804.
Blanco-Aguirre ME, Kofman-Alfaro SH, Rivera-Vega MR, Medina C, Valdes-Flores M, Rizzo WB, Cuevas-Covarrubias SA. Unusual clinical presentation in two cases of multiple sulfatase deficiency. Pediatr Dermatol. 2001 Sep-Oct;18(5):388-92. PubMed PMID: 11737681.
Rizzo WB, Lin Z, Carney G. Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome. Chem Biol Interact. 2001 Jan 30;130-132(1-3):297-307. PubMed PMID: 11306053.
Sanyal AJ, Campbell-Sargent C, Mirshahi F, Rizzo WB, Contos MJ, Sterling RK, Luketic VA, Shiffman ML, Clore JN. Nonalcoholic steatohepatitis: association of insulin resistance and mitochondrial abnormalities. Gastroenterology. 2001 Apr;120(5):1183-92. PubMed PMID: 11266382.

Cincinnati Children's Hospital Medical Center - Cincinnati, Ohio

Contact Information:

James Heubi, M.D.
Principal Investigator
CCHMC
3333 Burnet Ave. MLC 11028
Cincinnati, OH 45229
Email : james.heubi@cchmc.org

Donna Buckley, MEd, CCRP
Study Coordinator
CCHMC
Clinical Translational Research Center
3333 Burnet Ave. MLC 11028
Cincinnati, OH 45229
Phone : 513-636-8549
Email : Donna.Buckley@cchmc.org

Links:

Cincinnati Children's Hospital Medical Center Web Site

Oregon Health & Science University - Portland, Oregon

Contact Information:

Jean-Baptiste Roullet, PhD
Principal Investigator
707 SW Gaines St. CDRCP
Portland, OR 97239
Email : roulletj@ohsu.edu

Kara Helgren
Study Coordinator
707 SW Gaines St.
Portland, OR 97239
Phone : 503-346-3539
Email : Helgren@ohsu.edu

Links:

OSHU Home

Publications

Merkens LS, Wassif CA, Healy K, Pappu AS, DeBarber AE, Penfield JA, Lindsay RA, Roullet J-B, Porter FD, Steiner, RD 2009 Smith-Lemli-Opitz syndrome and inborn error of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health Genet in Med 11:359-364.
Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD. The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2006 Jul 15; 140 (14): 1511-8.
Sikora DM, Ruggiero M, Pettit-Kekel K, Merkens LS, Connor WE, Steiner RD. Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatri. 2004 Jun; 144(6): 783-91.
Steiner RD, Linck LM, Flavell DP, Lin DS, Connor WE. Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production. J Lipid Res. 2000 Sep; 41(9): 1437-47.

Children's Hospital of Pittsburgh
University of Pittsburgh Medical Center

Contact Information:

Gerard Vockley, MD, PhD
Principal Investigator
Children’s Hospital of Pittsburgh
4401 Penn Avenue
Department of Medical Genetics
Pittsburgh, PA 15224
Email : Gerard.vockley@chp.edu

Angela Leshinski
Study Coordinator
Children's Hospital of Pittsburgh
4401 Penn Avenue
Department of Medical Genetics
Pittsburgh, PA 15224
Phone : 412-692-5232
Email : Angela.Leshinski@chp.edu

Links:

Children's Hospital of Pittsburgh of UPMC

Division of Medical Genetics

National Human Genome Research Institute

Contact Information:

William A. Gahl, M.D. Ph.D.
Clinical Director
Building 10, Room 10C103
10 Center DR, MSC 1851
Bethesda, MD 20892-1851
Phone : 301-402-2739
Email : gahlw@helix.nih.gov

Lynne A. Wolfe, MS, CRNP, BC
Senior Nurse Practitioner
NIH Undiagnosed Diseases Program
Epi-743 MitoWorks Study
Congenital Disorders of Glycosylation protocol
NIH/NHGRI
CRC, Suite 3-2551
10 Center DR
Bethesda, MD 20892
Office : 301-443-8577
Email : lynne.wolfe@nih.gov

Canada

Institution	Province	Studies
University of Manitoba, Winnipeg	Manitoba	7002, 7007

University of Manitoba

Contact Information:

Peter J.H. Jones, Ph.D
Principal Investigator
Email : peter_jones@umanitoba.ca

Semone Myrie, RD, PhD
Co-Investigator
Phone : 204-474-7290
Email : myrie@cc.umanitoba.ca

Netherlands

Institution	Studies
Radboud University Nijmegen Medical Center	7003

N4i Centre for Immunodeficiency and Autoinflammation (NCIA) Department of General Internal Medicine, Radboud University Nijmegen Medical Centre

Contact Information:

Anna Simon, MD PhD
Principal Investigator Nijmegen site
N4i Centre for Immunodeficiency and Autoinflammation (NCIA)
Department of General Internal Medicine, internal post 463
Radboud University Nijmegen Medical Centre
PO Box 9101
6500 HB Nijmegen
The Netherlands
Phone : +31 24 3618819
Email : a.simon@aig.umcn.nl

Monique Stoffels, MSc
Phone : +31 24 3618819
Email : m.stoffels@aig.umcn.nl

Links:

www.ncia.nl (German)

www.n4i.nl (English)

www.radboudumc.nl/Research/

Publications

Ter Haar N, Lachmann H, Ozen S, Woo P, Uziel Y, Modesto C, Koné-Paut I, Cantarini L, Insalaco A, Neven B, Hofer M, Rigante D, Al-Mayouf S, Touitou I, Gallizzi R, Papadopoulou-Alataki E, Martino S, Kuemmerle-Deschner J, Obici L, Iagaru N, Simon A, Nielsen S, Martini A, Ruperto N, Gattorno M, Frenkel J; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/Eurotraps Projects". Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 2012, Jun 29
De Koning HD, Simon A, Zeeuwen PL, Schalkwijk J. Pattern recognition receptors in infectious skin diseases. Microbes Infect 2012; epub.
de Koning HD, Simon A, Zeeuwen PL, Schalkwijk J. Pattern Recognition Receptors in Immune Disorders Affecting the Skin. J Innate Immun 2012; 4:225-240.
Natasa Toplak, Joost Frenkel, Seza Ozen, Helen J Lachmann, Patricia Woo, Isabelle Koné-Paut, Fabrizio De Benedetti, Benedicte Neven, Michael Hofer, Pavla Dolezalova, Jasmin Kümmerle-Deschner, Isabelle Touitou, Veronique Hentgen, Anna Simon, Herman Girschick, Carlos Rose, Carine Wouters, Richard Vesely, Juan Arostegui, Silvia Stojanov, Huri Ozgodan, Alberto Martini, Nicolino Ruperto, Marco Gattorno. An International registry on Autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis 2012; 71:1177-1182.
N Toplak, J Frenkel, S Ozen, F De Benedetti, M Hofer, I Kone-Paut, H Girschick, B Neven, H Ozdogan, J Kummerle-Deschner, J Arostegui, A Simon, S Stojanov, R Vesely, C Wouters, V Hentgen, C Rose, P Dolezalova, H Lachmann, P Woo, I Touitou, A Martini, N Ruperto, M Gattorno. The Eurofever Registry for autoinflammatory diseases: results of the first 15 months of enrolment. Pediatric Rheumatology 2011; 9:1-1.
Weegerink NJD, Schraders M, Leijendeckers J, Slieker K, Huygen PLM, Hoefsloot L, Oostrik J, Pennings RJE, Simon A, Snik A, Kremer H, Kunst HPM. Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. Hearing Research 2011; 282:243-251.
Bodar EJ, Kuijk L, Drenth JPH, Van der Meer JWM, Simon A*, Frenkel J*. On demand anakinra treatment is effective in mevalonate kinase deficiency. Ann Rheum Dis 2011; 70:1168-70.
Stoffels M, Simon A. Hyper-IgD syndrome or mevalonate kinase deficiency. Curr Opin Rheumatol 2011; 23:419-23
De Koning HD, Schalkwijk J, Van der Meer JWM, Simon A. Successful Canakinumab Treatment Identifies Interleukin-1 beta as a Pivotal Mediator in Schnitzler Syndrome. J Allergy Clin Immunol 2011, 2011;128:1352-4.
Schellevis MA, Stoffels M, Hoppenreijs EP, Bodar E, Simon A, van der Meer JW. Variable expression and treatment of PAPA syndrome. Ann Rheum Dis 2011; 70:1168-70.
Bulua AC, Simon A, Maddipati R, Pelletier M, Park H, Kim KY, Sack MN, Kastner DL, Siegel RM. Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). J Exp Med 2011; 208:519-33.
Bodar EJ, Simon A, Van der Meer JW. Effects of the histone deacetylase inhibitor ITF2357 in autoinflammatory syndromes. Mol Med 2011; 17:363-8.
Piram M, Frenkel J, Gattorno M, Ozen S, Lachmann HJ, Goldbach-Mansky R, Hentgen V, Neven B, Stojanovic KS, Simon A, Kuemmerle-Deschner J, Hoffman H, Stojanov S, Duquesne A, Pillet P, Martini A, Pouchot J, Koné-Paut I; EUROFEVER and EUROTRAPS networks. A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference. Ann Rheum Dis. 2011 Feb;70(2):309-14.
Simon A , Park H, Maddipati R, Bulua A, Jackson AJ, Chae JJ, Ettinger R, de Koning HD, Lobito AA, Kastner DL, Komarow H, Siegel RM. Concerted Action of Wild-type and Mutant TNF Receptors Enhances Inflammation in TNFR1-Associated Periodic Fever Syndrome (TRAPS). Proc Natl Acad Sci U S A. 2010 May 25;107(21):9801-6.
Netea MG, Simon A, Van de Veerdonk F, Kullberg BJ, Van der Meer JWM, Joosten LAB. IL-1β Processing in Host Defense: Beyond the Inflammasomes. PLOS Pathogens 2010;6:2.
Bodar EJ, Simon A, de Visser M, van der Meer JW. Complete remission of severe idiopathic cold urticaria on interleukin-1 receptor antagonist (anakinra). Neth J Med 2009, 67:302-5.
De Wolff JF, Dickinson SJ, Molyneux K, Smith ACC, Feehally J, Simon A, Barratt J. Abnormal IgD and IgA1 O-glycosylation in Hyperimmunoglobulinaemia D and Periodic Fever Syndrome (HIDS). Clin Exp Medicine 2009; 9:291-96.
Steichen O, van der Hilst J, Simon A, Cuisset L, Grateau G. A Clinical Criterion to Exclude the Hyperimmunoglobulin D Syndrome (Mild Mevalonate Kinase Deficiency) in Patients with Recurrent Fever. J Rheumatol 2009;36:1677-81.
Van der Hilst JC, Kluve-Beckerman B, van der Meer JW, Simon A. Cathepsin D activity protects against development of type AA amyloid fibrils. Eur J Clin Invest. 2009;39:412-6.
Hoffman HM, Simon A. Recurrent febrile syndromes – what does a rheumatologist need to know? Nat. Rev. Rheumatol. 2009; 5: 249–256.
Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror Autoinflammaticus: the molecular pathophysiology of Autoinflammatory Disease. Annu. Rev. Immunol. 2009; 27:621–668.
Van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, Simon A; the International HIDS Study Group. Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome. Medicine (Baltimore). 2008; 87:301-310.
Bodar EJ, Drenth JPH, Van der Meer JWM, Simon A. Dysregulation of innate immunity: hereditary periodic fever syndromes. Brit J Haematol 2008; 144: 279-302.
Van der Hilst JC, Yamada T, Op den Camp HJ, van der Meer JW, Drenth JP, Simon A. Increased susceptibility of serum amyloid A 1.1 to degradation by MMP-1: potential explanation for higher risk of type AA amyloidosis. Rheumatology (Oxford). 2008; 47:1651-4.
Van der Hilst JCH, Kluve-Beckerman B, Bodar EJ, Van der Meer JWM, Drenth JPH, Simon A. Lovastatin inhibits formation of AA amyloid. J Leuk Biol 2008; 83:1295-9.
Simon A , Kullberg BJ, Boerman OC, Van der Ven J, Tripet B, Zeeuwen P, Verweij P, Schalkwijk J, Hodges R, Van der Meer JWM, Netea MG. Drosomycin-like defensin (DLD): a human homologue of Drosophila melanogaster drosomycin with antifungal activity. Antimicrob. Agents Chemother. 2008; 52:1407-12.
Ryan JG, de Koning HD, Beck LA, Booty MG, Kastner DL, Simon A. IL-1 blockade in Schnitzler syndrome: Ex vivo findings correlate with clinical remission. J Allergy Clin Immunol 2008; 121:260-2.
De Koning HD, Bodar EJ, Van der Meer JWM, Simon A. Schnitzler syndrome: beyond the case reports. Review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum. 2007 Dec;37(3):137-48.
Van der Hilst JC, Van der Meer JWM, Drenth JPH, Simon A. AL amyloidosis enhances development of AA amyloidosis. Br J Dermatol. 2007 Apr;156(4):748-9.
Bodar EJ, Van der Hilst JCH, Van Heerde W, Van der Meer JWM, Drenth JPH, Simon A. Defective apoptosis of peripheral blood lymphocytes in hyper-IgD and periodic fever syndrome. Blood 2007; 109:2416-8
Simon A , Van der Meer JWM. Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. Am J Physiol Regul Integr Comp Physiol. 2007; 292:R86-98.
Simon A , Van der Meer JWM, Veselý R, Myrdal U, Yoshimura K, Duys P, Drenth JPH & contributing members of the International HIDS Study Group. Approach to genetic analysis in diagnosis of hereditary autoinflammatory syndromes. Rheumatology 2006; 45:269-73.
De Koning HD, Bodar EJ, Simon A, Van der Hilst JCH, Netea MG, Van der Meer JWM. Beneficial response to anakinra and thalidomide in Schnitzler’s syndrome. Ann Rheum Dis 2006; 65:542-4.
Bodar EJ, Van der Hilst JCH, Drenth JPH, Van der Meer JWM, Simon A. Effect of etanercept and anakinra on inflammatory attacks in the Hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med 2005; 63:260-4.
van der Hilst JCH, Drenth JPH, Bodar EJ, Bijzet J, van der Meer JWM, Simon A and contributing members of the International HIDS Study Group. Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome. Amyloid 2005; 12:115-119 .
Van der Hilst JCH, Simon A, Drenth JPH. Hereditary Periodic fever and reactive amyloidosis. Clin Exp Med 2005; 5:87-98.
Simon A, Van der Meer JWM, Drenth JPH. Familial Mediterranean Fever – a not so unusual cause of abdominal pain. Best Pract Res Cl Ga 2005; 19:199-213
Simon A , Bodar EJ, Fiselier TJW, Cuppen MPJM, Van der Hilst JCH, Drenth JPH, van der Meer JWM. Beneficial response to interleukin-1-receptor antagonist in a patient with severe, treatment-resistant TNF-receptor associated periodic syndrome (TRAPS). Am J Med 2004; 117:208-10.
Simon A, Bijzet J, Voorbij HAM, Mantovani A, Van der Meer JWM, Drenth JPH. Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response. J Intern Med 2004; 256:247-53.
Simon A , Drewe E, van der Meer JWM, Powell RJ, Kelley RI, Stalenhoef AFH, Drenth JPH. Simvastatin treatment for inflammatory attacks of the hyper-IgD and periodic fever syndrome. Clin Pharm Therap2004; 75: 476-83.
Simon A , Kremer HPH, Wevers RA, Scheffer H, de Jong JG, van der Meer JWM, Drenth JPH. Mevalonate kinase deficiency: evidence for a phenotypic continuum. Neurology 2004; 62:994-7.
Simon A , Mariman EC, Van der Meer JWM, Drenth JPH. Major mutation of the hyper-IgD and periodic fever syndrome originates from one common ancestor – truly Dutch type periodic fever? Am J Med 2003; 114:148-52.
Simon A , Van Deuren M, Tighe PJ, Van der Meer JWM, Drenth JPH. Genetic analysis: valuable key to diagnosis and treatment in periodic fever. Arch Intern Med 2001; 161:2491-3.
Simon A , Cuisset L, Vincent MF, Van der Velde-Visser SD, Delpech M, Van der Meer JWM, Drenth JPH, International HIDS Study Group. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med 2001; 135:338-43.
Drenth JPH, Vonk AG, Simon A, Powell R, Van der Meer JWM. Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial. J Pharm Exp Ther 2001; 298:1221-6.
Cuisset L, Drenth JPH, Simon A, Vincent MF, Van der Velde-Visser S, Van der Meer JWM, Grateau G, Delpech M, International Hyper-IgD Study Group. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 2001; 9:260-6.
Simon A , Dodé C, van der Meer JWM, Drenth JPH. Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene. Am J Med 2001; 110:313-6.
Simon A , Van der Meer JWM, Drenth JPH. Chapter 114 Familial auto-inflammatory syndromes. (revised edition) In: Harris ED et al, eds. Kelley’s Textbook of Rheumatology. 8th ed. Saunders. 2009, 7th ed 2004.
Bodar EJ, Simon A, Drenth JPH. Chapter 67 - Hereditary periodic fever syndromes. In: Shah SS, ed. Pediatric Practice: Infectious Diseases. 1st ed. McGraw-Hill, 2009: 637-648.

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