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Severe Skin Diseases in Children pp 123–139Cite as

Autoinflammatory Syndromes

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Abstract

Autoinflammation is characterized by aberrant regulation of the innate immune system and often manifests as early-onset periodic fevers and systemic inflammation involving multiple organs, including the skin. The genetic basis for many of the autoinflammatory syndromes has recently been elucidated. Mutations leading to abnormal behavior or activity of the interleukin (IL)-1 beta-processing inflammasome complex have been linked to several of these conditions. The mainstay of therapy consists of anti-inflammatory agents, such as high-dose systemic corticosteroids, and immunosuppressants, including IL-1 blockade, tumor necrosis factor-alpha (TNF-α) inhibition, and, for selected conditions, IL-6 inhibition.

Authorship Responsibilities and Attributions

Neither this manuscript nor one with substantially similar content under my authorship has been published or is being considered for publication elsewhere. Mr. Nguyen and I (Kieron Leslie) both have significant contribution to the manuscript. He has agreed to designate me as the primary correspondent with the editors to review the edited typescript and proof, and to make decisions regarding release of information in the manuscript to the media, federal agencies, or both.

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Abbreviations

AD:

Atopic dermatitis

ASC:

Apoptosis-associated speck-like protein

CANDLE:

Chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperature

CAPS:

Cryopyrin-associated periodic syndrome

CARD:

Caspase-recruiting domain

CINCA:

Chronic infantile neurologic cutaneous and articular

CRP:

C-reactive protein

DAMP:

Danger-associated molecular pattern

DIRA:

Deficiency of the interleukin-1 receptor antagonist

ESR:

Erythrocyte sedimentation rate

FCAS:

Familial cold-associated syndrome

FMF:

Familial Mediterranean fever

HIDS:

Hyper immunoglobulin D syndrome

H&P:

History and physical examination

Ig (A D, E, M, or G):

Immunoglobulin (type A, D, E, M, or G)

IL:

Interleukin

IL-1β:

Interleukin-1 beta

IL-RA:

Interleukin receptor antagonist

MKD:

Mevalonate kinase deficiency

MWS:

Muckle-Wells syndrome

NLR:

Nucleotide-binding domain leucine-rich repeat-containing

NLRP:

Nucleotide-binding domain leucine-rich repeat-containing protein

NOD:

Nucleotide-binding oligomerization domain

NOMID:

Neonatal onset multisystem inflammatory disorder

NSAID:

Nonsteroidal anti-inflammatory drug

PAMP:

Pathogen-associated molecular pattern

PAPA:

Pyogenic arthritis, pyoderma gangrenosum, and acne

PG:

Pyoderma gangrenosum

PRR:

Pattern recognition receptor

SAA:

Serum amyloid A

SAPHO:

Synovitis acne, pustulosis, hyperostosis, and osteitis

SLE:

Systemic lupus erythematosus

SNP:

Single nucleotide polymorphism

SOJIA:

Systemic-onset juvenile idiopathic arthritis

TLR:

Toll-like receptor

TNF-α:

Tumor necrosis factor alpha

TRAPS:

Tumor necrosis factor receptor-associated periodic syndrome

References

  1. Ye Z, Ting JP. NLR, the nucleotide-binding domain leucine-rich repeat containing gene family. Curr Opin Immunol. 2008;20:3–9.

    PubMed  CAS  Google Scholar 

  2. Ting JP, Lovering RC, Alnemri ES, Bertin J, Boss JM, Davis BK, et al. The NLR gene family: a standard nomenclature. Immunity. 2008;28:285–7.

    PubMed  CAS  Google Scholar 

  3. Schroder K, Tschopp J. The inflammasomes. Cell. 2010;140:821–32.

    PubMed  CAS  Google Scholar 

  4. Keller M, Ruegg A, Werner S, Beer HD. Active caspase-1 is a regulator of unconventional protein secretion. Cell. 2008;132:818–31.

    PubMed  CAS  Google Scholar 

  5. Glaser RL, Goldbach-Mansky R. The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies. Curr Allergy Asthma Rep. 2008;8:288–98.

    PubMed  CAS  Google Scholar 

  6. Dinarello CA, Ikejima T, Warner SJ, Orencole SF, Lonnemann G, Cannon JG, et al. Interleukin 1 induces interleukin 1. I. Induction of circulating interleukin 1 in rabbits in vivo and in human mononuclear cells in vitro. J Immunol. 1987;139:1902–10.

    PubMed  CAS  Google Scholar 

  7. Lachmann HJ, Lowe P, Felix SD, Rordorf C, Leslie K, Madhoo S, et al. In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes. J Exp Med. 2009;206:1029–36.

    PubMed  CAS  Google Scholar 

  8. Zhou R, Yazdi AS, Menu P, Tschopp J. A role for mitochondria in NLRP3 inflammasome activation. Nature. 2011;469:221–5.

    PubMed  CAS  Google Scholar 

  9. Doeglas HM, Bleumink E. Familial cold urticaria. Clinical findings. Arch Dermatol. 1974;110:382–8.

    PubMed  CAS  Google Scholar 

  10. Stych B, Dobrovolny D. Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients’ lives. Curr Med Res Opin. 2008;24:1577–82.

    PubMed  Google Scholar 

  11. Yu JR, Leslie KS. Cryopyrin-associated periodic syndrome: an update on diagnosis and treatment response. Curr Allergy Asthma Rep. 2011;11:12–20.

    PubMed  CAS  Google Scholar 

  12. Kubota T, Koike R. Cryopyrin-associated periodic syndromes: background and therapeutics. Mod Rheumatol. 2010;20:213–21.

    PubMed  Google Scholar 

  13. Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol. 2006;142:1591–7.

    PubMed  CAS  Google Scholar 

  14. Montealegre Sanchez GA, Hashkes PJ. Neurological manifestations of the Mendelian-inherited autoinflammatory syndromes. Dev Med Child Neurol. 2009;51:420–8.

    PubMed  Google Scholar 

  15. Dowds TA, Masumoto J, Zhu L, Inohara N, Nunez G. Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC. J Biol Chem. 2004;279:21924–8.

    PubMed  CAS  Google Scholar 

  16. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 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 Rheum. 2002;46:3340–8.

    PubMed  CAS  Google Scholar 

  17. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29:301–5.

    PubMed  CAS  Google Scholar 

  18. Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet. 2002;71:198–203.

    PubMed  CAS  Google Scholar 

  19. Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20:319–25.

    PubMed  CAS  Google Scholar 

  20. Jeru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008;105:1614–9.

    PubMed  CAS  Google Scholar 

  21. Jeru I, Hentgen V, Normand S, Duquesnoy P, Cochet E, Delwail A, et al. Role of interleukin-1beta in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy. Arthritis Rheum. 2011;63:2142–8.

    PubMed  CAS  Google Scholar 

  22. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004;50:607–12.

    PubMed  CAS  Google Scholar 

  23. Ramos E, Arostegui JI, Campuzano S, Rius J, Bousono C, Yague J. Positive clinical and biochemical responses to anakinra in a 3-yr-old patient with cryopyrin-associated periodic syndrome (CAPS). Rheumatology (Oxford). 2005;44:1072–3.

    CAS  Google Scholar 

  24. Boschan C, Witt O, Lohse P, Foeldvari I, Zappel H, Schweigerer L. Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment. Am J Med Genet A. 2006;140:883–6.

    PubMed  CAS  Google Scholar 

  25. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355:581–92.

    PubMed  CAS  Google Scholar 

  26. Neven B, Marvillet I, Terrada C, Ferster A, Boddaert N, Couloignier V, et al. Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2010;62:258–67.

    PubMed  CAS  Google Scholar 

  27. Genovese MC, Cohen S, Moreland L, Lium D, Robbins S, Newmark R, et al. Combination therapy with etanercept and anakinra in the treatment of patients with rheumatoid arthritis who have been treated unsuccessfully with methotrexate. Arthritis Rheum. 2004;50:1412–9.

    PubMed  CAS  Google Scholar 

  28. Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, et al. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med. 2009;360:2416–25.

    PubMed  CAS  Google Scholar 

  29. Economides AN, Carpenter LR, Rudge JS, Wong V, Koehler-Stec EM, Hartnett C, et al. Cytokine traps: multi-component, high-affinity blockers of cytokine action. Nat Med. 2003;9:47–52.

    PubMed  CAS  Google Scholar 

  30. Goldbach-Mansky R, Shroff SD, Wilson M, Snyder C, Plehn S, Barham B, 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 Rheum. 2008;58:2432–42.

    PubMed  CAS  Google Scholar 

  31. Hoffman HM, Throne ML, Amar NJ, Sebai M, Kivitz AJ, Kavanaugh A, 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 Rheum. 2008;58:2443–52.

    PubMed  CAS  Google Scholar 

  32. Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc. 1997;72:611–5.

    PubMed  CAS  Google Scholar 

  33. Brenner M, Ruzicka T, Plewig G, Thomas P, Herzer P. Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra. Br J Dermatol. 2009;161:1199–201.

    PubMed  CAS  Google Scholar 

  34. Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A. 2003;100:13501–6.

    PubMed  CAS  Google Scholar 

  35. Smith EJ, Allantaz F, Bennett L, Zhang D, Gao X, Wood G, et al. Clinical, molecular, and genetic characteristics of PAPA syndrome: a review. Curr Genomics. 2010;11:519–27.

    PubMed  CAS  Google Scholar 

  36. Edrees AF, Kaplan DL, Abdou NI. Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) associated with hypogammaglobulinemia and elevated serum tumor necrosis factor-alpha levels. J Clin Rheumatol. 2002;8:273–5.

    PubMed  Google Scholar 

  37. Jacobs JC, Goetzl EJ. “Streaking leukocyte factor,” arthritis, and pyoderma gangrenosum. Pediatrics. 1975;56:570–8.

    PubMed  CAS  Google Scholar 

  38. Stichweh DS, Punaro M, Pascual V. Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome. Pediatr Dermatol. 2005;22:262–5.

    PubMed  Google Scholar 

  39. Cortis E, De Benedetti F, Insalaco A, Cioschi S, Muratori F, D’Urbano LE, et al. Abnormal production of tumor necrosis factor (TNF) – alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected]. J Pediatr. 2004;145:851–5.

    PubMed  Google Scholar 

  40. Tofteland ND, Shaver TS. Clinical efficacy of etanercept for treatment of PAPA syndrome. J Clin Rheumatol. 2010;16:244–5.

    PubMed  Google Scholar 

  41. 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.

    PubMed  Google Scholar 

  42. Pastores GM, Michels VV, Stickler GB, Su WP, Nelson AM, Bovenmyer DA. Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. J Pediatr. 1990;117:403–8.

    PubMed  CAS  Google Scholar 

  43. Raphael SA, Blau EB, Zhang WH, Hsu SH. Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. Am J Dis Child. 1993;147:842–8.

    PubMed  CAS  Google Scholar 

  44. Snyers B, Dahan K. Blau syndrome associated with a CARD15/NOD2 mutation. Am J Ophthalmol. 2006;142:1089–92.

    PubMed  CAS  Google Scholar 

  45. Kurokawa T, Kikuchi T, Ohta K, Imai H, Yoshimura N. Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. Ophthalmology. 2003;110:2040–4.

    PubMed  Google Scholar 

  46. Stoevesandt J, Morbach H, Martin TM, Zierhut M, Girschick H, Hamm H. Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. Pediatr Dermatol. 2010;27:69–73.

    PubMed  Google Scholar 

  47. Alonso D, Elgart GW, Schachner LA. Blau syndrome: a new kindred. J Am Acad Dermatol. 2003;49:299–302.

    PubMed  Google Scholar 

  48. Schaffer JV, Chandra P, Keegan BR, Heller P, Shin HT. Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. Arch Dermatol. 2007;143:386–91.

    PubMed  Google Scholar 

  49. Dhondt V, Hofman S, Dahan K, Beele H. Leg ulcers: a new symptom of Blau syndrome? Eur J Dermatol. 2008;18:635–7.

    PubMed  Google Scholar 

  50. Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, et al. CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. Arthritis Rheum. 2002;46:3041–5.

    PubMed  CAS  Google Scholar 

  51. Ting SS, Ziegler J, Fischer E. Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. J Pediatr. 1998;133:450–2.

    PubMed  CAS  Google Scholar 

  52. Saini SK, Rose CD. Liver involvement in familial granulomatous arthritis (Blau syndrome). J Rheumatol. 1996;23:396–9.

    PubMed  CAS  Google Scholar 

  53. Becker ML, Martin TM, Doyle TM, Rose CD. Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. Arthritis Rheum. 2007;56:1292–4.

    PubMed  CAS  Google Scholar 

  54. Israel HL. Prognosis of sarcoidosis. Ann Intern Med. 1970;73:1038–9.

    PubMed  CAS  Google Scholar 

  55. Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, et al. CARD15 mutations in Blau syndrome. Nat Genet. 2001;29:19–20.

    PubMed  CAS  Google Scholar 

  56. Hisamatsu T, Suzuki M, Reinecker HC, Nadeau WJ, McCormick BA, Podolsky DK. CARD15/NOD2 functions as an antibacterial factor in human intestinal epithelial cells. Gastroenterology. 2003;124:993–1000.

    PubMed  CAS  Google Scholar 

  57. Ogura Y, Inohara N, Benito A, Chen FF, Yamaoka S, Nunez G. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappa B. J Biol Chem. 2001;276:4812–8.

    PubMed  CAS  Google Scholar 

  58. Martin TM, Zhang Z, Kurz P, Rose CD, Chen H, Lu H, et al. The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. Arthritis Rheum. 2009;60:611–8.

    PubMed  CAS  Google Scholar 

  59. Arostegui JI, Arnal C, Merino R, Modesto C, Antonia Carballo M, Moreno P, et al. NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. Arthritis Rheum. 2007;56:3805–13.

    PubMed  CAS  Google Scholar 

  60. Yasui K, Yashiro M, Tsuge M, Manki A, Takemoto K, Yamamoto M, et al. Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. Arthritis Rheum. 2010;62:250–7.

    PubMed  CAS  Google Scholar 

  61. Milman N, Andersen CB, Hansen A, van Overeem Hansen T, Nielsen FC, Fledelius H, et al. Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. APMIS. 2006;114:912–9.

    PubMed  Google Scholar 

  62. Schmaltz R, Vogt T, Reichrath J. Skin manifestations in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Dermatoendocrinol. 2010;2:26–9.

    PubMed  CAS  Google Scholar 

  63. Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore). 2002;81:349–68.

    CAS  Google Scholar 

  64. Morbach H, Richl P, Stojanov S, Lohse P, Girschick HJ. Tumor necrosis factor receptor 1-associated periodic syndrome without fever: cytokine profile before and during etanercept treatment. Rheumatol Int. 2009;30:207–12.

    PubMed  CAS  Google Scholar 

  65. Toro JR, Aksentijevich I, Hull K, Dean J, Kastner DL. Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch Dermatol. 2000;136:1487–94.

    PubMed  CAS  Google Scholar 

  66. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97:133–44.

    PubMed  CAS  Google Scholar 

  67. Kimberley FC, Lobito AA, Siegel RM, Screaton GR. Falling into TRAPS–receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. Arthritis Res Ther. 2007;9:217.

    PubMed  Google Scholar 

  68. Ter Haar N, Lachmann H, Ozen S, Woo P, Uziel Y, Modesto C, et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis. 2013;72:678–85.

    PubMed  Google Scholar 

  69. Gattorno M, Pelagatti MA, Meini A, Obici L, Barcellona R, Federici S, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58:1516–20.

    PubMed  CAS  Google Scholar 

  70. Drewe E, McDermott EM, Powell RJ. Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome. N Engl J Med. 2000;343:1044–5.

    PubMed  CAS  Google Scholar 

  71. Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology (Oxford). 2003;42:235–9.

    CAS  Google Scholar 

  72. Bulua AC, Mogul DB, Aksentijevich I, Singh H, He D, Muenz L, et al. Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Arthritis Rheum. 2012;64(3):908–13.

    PubMed  CAS  Google Scholar 

  73. Nedjai B, Hitman GA, Quillinan N, Coughlan RJ, Church L, McDermott MF, et al. Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2009;60:619–25.

    PubMed  CAS  Google Scholar 

  74. Vaitla PM, Radford PM, Tighe PJ, Powell RJ, McDermott EM, Todd I, et al. Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab. Arthritis Rheum. 2011;63:1151–5.

    PubMed  Google Scholar 

  75. Drenth JP, Boom BW, Toonstra J, Van der Meer JW. Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group. Arch Dermatol. 1994;130:59–65.

    PubMed  CAS  Google Scholar 

  76. van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore). 2008;87:301–10.

    Google Scholar 

  77. Bader-Meunier B, Florkin B, Sibilia J, Acquaviva C, Hachulla E, Grateau G, et al. Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics. 2011;128:e152–9.

    PubMed  Google Scholar 

  78. Boom BW, Daha MR, Vermeer BJ, van der Meer JW. IgD immune complex vasculitis in a patient with hyperimmunoglobulinemia D and periodic fever. Arch Dermatol. 1990;126:1621–4.

    PubMed  CAS  Google Scholar 

  79. Chen K, Xu W, Wilson M, He B, Miller NW, Bengten E, et al. Immunoglobulin D enhances immune surveillance by activating antimicrobial, proinflammatory and B cell-stimulating programs in basophils. Nat Immunol. 2009;10:889–98.

    PubMed  CAS  Google Scholar 

  80. Drenth JP, van der Meer JW. Hereditary periodic fever. N Engl J Med. 2001;345:1748–57.

    PubMed  CAS  Google Scholar 

  81. Infevers: an online database for autoinflammatory mutations. http://fmf.igh.cnrs.fr/ISSAID/infevers/. Accessed on Jun 2012.

  82. Normand S, Massonnet B, Delwail A, Favot L, Cuisset L, Grateau G, et al. Specific increase in caspase-1 activity and secretion of IL-1 family cytokines: a putative link between mevalonate kinase deficiency and inflammation. Eur Cytokine Netw. 2009;20:101–7.

    PubMed  CAS  Google Scholar 

  83. Pontillo A, Paoluzzi E, Crovella S. The inhibition of mevalonate pathway induces upregulation of NALP3 expression: new insight in the pathogenesis of mevalonate kinase deficiency. Eur J Hum Genet. 2010;18:844–7.

    PubMed  CAS  Google Scholar 

  84. Drenth JP, van Deuren M, van der Ven-Jongekrijg J, Schalkwijk CG, van der Meer JW. Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Blood. 1995;85:3586–93.

    PubMed  CAS  Google Scholar 

  85. Attout H, Guez S, Ranaivo I, Jameerbaccus N, Series C. A patient with hyper-IgD syndrome responding to simvastatin treatment. Eur J Intern Med. 2008;19:e82–3.

    PubMed  CAS  Google Scholar 

  86. Demirkaya E, Caglar MK, Waterham HR, Topaloglu R, Ozen S. A patient with hyper-IgD syndrome responding to anti-TNF treatment. Clin Rheumatol. 2007;26:1757–9.

    PubMed  Google Scholar 

  87. Simon A, Drewe E, van der Meer JW, Powell RJ, Kelley RI, Stalenhoef AF, et al. Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther. 2004;75:476–83.

    PubMed  CAS  Google Scholar 

  88. Topaloglu R, Ayaz NA, Waterham HR, Yuce A, Gumruk F, Sanal O. Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up. Clin Rheumatol. 2008;27:1317–20.

    PubMed  Google Scholar 

  89. Korppi M, Van Gijn ME, Antila K. Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report. Acta Paediatr. 2011;100:21–5.

    PubMed  CAS  Google Scholar 

  90. Rigante D, Ansuini V, Bertoni B, Pugliese AL, Avallone L, Federico G, et al. Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome. Rheumatol Int. 2006;27:97–100.

    PubMed  Google Scholar 

  91. Bodar EJ, Kuijk LM, Drenth JP, van der Meer JW, Simon A, Frenkel J. On-demand anakinra treatment is effective in mevalonate kinase deficiency. Ann Rheum Dis. 2011;70:2155–8.

    PubMed  CAS  Google Scholar 

  92. Bodar EJ, van der Hilst JC, Drenth JP, van der Meer JW, 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.

    PubMed  CAS  Google Scholar 

  93. Shohat M, Halpern GJ. Familial Mediterranean fever–a review. Genet Med. 2011;13:487–98.

    PubMed  Google Scholar 

  94. Cabral M, Conde M, Brito MJ, Almeida H, Melo Gomes JA. [Protracted Febrile Myalgia Syndrome with Henoch-Schonlein Purpura: an atypical presentation of Familial Mediterranean Fever]. Acta Reumatol Port. 2011;36:69–74.

    PubMed  CAS  Google Scholar 

  95. Aydin F, Ozcelik C, Akpolat I, Turanli AY, Akpolat T. Erysipelas-like erythema with familial Mediterranean fever. J Dermatol. 2011;38:513–5.

    PubMed  Google Scholar 

  96. Azizi E, Fisher BK. Cutaneous manifestations of familial Mediterranean fever. Arch Dermatol. 1976;112:364–6.

    PubMed  CAS  Google Scholar 

  97. Satta R, Obici L, Merlini G, Cottoni F. Late-onset familial Mediterranean fever: an atypical presentation of dermatologic interest. Arch Dermatol. 2007;143:1080–1.

    PubMed  Google Scholar 

  98. Balbir-Gurman A, Nahir AM, Braun-Moscovici Y. Vasculitis in siblings with familial Mediterranean fever: a report of three cases and review of the literature. Clin Rheumatol. 2007;26:1183–5.

    PubMed  Google Scholar 

  99. Lange-Sperandio B, Mohring K, Gutzler F, Mehls O. Variable expression of vasculitis in siblings with familial Mediterranean fever. Pediatr Nephrol. 2004;19:539–43.

    PubMed  Google Scholar 

  100. ten Oever J, de Munck DR. Recurrent pleurisy as sole manifestation of familial Mediterranean fever. Ned Tijdschr Geneeskd. 2008;152:887–90.

    PubMed  Google Scholar 

  101. Lega JC, Khouatra C, Cottin V, Cordier JF. Isolated recurrent pleuritis revealing familial mediterranean Fever in adulthood. Respiration. 2010;79:508–10.

    PubMed  CAS  Google Scholar 

  102. Okutur K, Seber S, Oztekin E, Bes C, Borlu F. Recurrent pericarditis as the initial manifestation of Familial Mediterranean fever. Med Sci Monit. 2008;14:CS139–41.

    PubMed  Google Scholar 

  103. Senel K, Melikoglu MA, Baykal T, Melikoglu M, Erdal A, Ugur M. Protracted febrile myalgia syndrome in familial Mediterranean fever. Mod Rheumatol. 2010;20:410–2.

    PubMed  Google Scholar 

  104. Shohat M, Magal N, Shohat T, Chen X, Dagan T, Mimouni A, et al. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet. 1999;7:287–92.

    PubMed  CAS  Google Scholar 

  105. Gershoni-Baruch R, Brik R, Shinawi M, Livneh A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet. 2002;10:145–9.

    PubMed  CAS  Google Scholar 

  106. Solak M, Yildiz H, Koken R, Erdogan M, Eser B, Sen T, et al. Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever. Genet Test. 2008;12:341–4.

    PubMed  CAS  Google Scholar 

  107. Pras M. Familial Mediterranean fever: from the clinical syndrome to the cloning of the pyrin gene. Scand J Rheumatol. 1998;27:92–7.

    PubMed  CAS  Google Scholar 

  108. Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007;56:1706–12.

    PubMed  Google Scholar 

  109. Goldstein RC, Schwabe AD. Prophylactic colchicine therapy in familial Mediterranean fever. A controlled, double-blind study. Ann Intern Med. 1974;81:792–4.

    PubMed  CAS  Google Scholar 

  110. Zemer D, Revach M, Pras M, Modan B, Schor S, Sohar E, et al. A controlled trial of colchicine in preventing attacks of familial mediterranean fever. N Engl J Med. 1974;291:932–4.

    PubMed  CAS  Google Scholar 

  111. Dinarello CA, Wolff SM, Goldfinger SE, Dale DC, Alling DW. Colchicine therapy for familial mediterranean fever. A double-blind trial. N Engl J Med. 1974;291:934–7.

    PubMed  CAS  Google Scholar 

  112. Gattringer R, Lagler H, Gattringer KB, Knapp S, Burgmann H, Winkler S, et al. Anakinra in two adolescent female patients suffering from colchicine-resistant familial Mediterranean fever: effective but risky. Eur J Clin Invest. 2007;37:912–4.

    PubMed  CAS  Google Scholar 

  113. Belkhir R, Moulonguet-Doleris L, Hachulla E, Prinseau J, Baglin A, Hanslik T. Treatment of familial Mediterranean fever with anakinra. Ann Intern Med. 2007;146:825–6.

    PubMed  Google Scholar 

  114. Kuijk LM, Govers AM, Frenkel J, Hofhuis WJ. Effective treatment of a colchicine-resistant familial Mediterranean fever patient with anakinra. Ann Rheum Dis. 2007;66:1545–6.

    PubMed  Google Scholar 

  115. Meinzer U, Quartier P, Alexandra JF, Hentgen V, Retornaz F, Kone-Paut I. Interleukin-1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature. Semin Arthritis Rheum. 2011;41:265–71.

    PubMed  CAS  Google Scholar 

  116. Moser C, Pohl G, Haslinger I, Knapp S, Rowczenio D, Russel T, et al. Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation. Nephrol Dial Transplant. 2009;24:676–8.

    PubMed  CAS  Google Scholar 

  117. Lidar M, Kedem R, Langevitz P, Pras M, Livneh A. Intravenous colchicine for treatment of patients with familial Mediterranean fever unresponsive to oral colchicine. J Rheumatol. 2003;30:2620–3.

    PubMed  CAS  Google Scholar 

  118. Bakkaloglu SA, Aksu T, Goker B, Unlusoy A, Peru H, Fidan K, et al. Sulphasalazine treatment in protracted familial Mediterranean fever arthritis. Eur J Pediatr. 2009;168:1017–9.

    PubMed  CAS  Google Scholar 

  119. Seyahi E, Ozdogan H, Masatlioglu S, Yazici H. Successful treatment of familial Mediterranean fever attacks with thalidomide in a colchicine resistant patient. Clin Exp Rheumatol. 2002;20:S43–4.

    PubMed  CAS  Google Scholar 

  120. Seyahi E, Ozdogan H, Celik S, Ugurlu S, Yazici H. Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol. 2006;24:S99–103.

    PubMed  CAS  Google Scholar 

  121. Sakallioglu O, Duzova A, Ozen S. Etanercept in the treatment of arthritis in a patient with familial Mediterranean fever. Clin Exp Rheumatol. 2006;24:435–7.

    PubMed  CAS  Google Scholar 

  122. Mor A, Pillinger MH, Kishimoto M, Abeles AM, Livneh A. Familial Mediterranean fever successfully treated with etanercept. J Clin Rheumatol. 2007;13:38–40.

    PubMed  Google Scholar 

  123. Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009;360:2426–37.

    PubMed  CAS  Google Scholar 

  124. Torrelo A, Patel S, Colmenero I, Gurbindo D, Lendinez F, Hernandez A, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 2010;62:489–95.

    PubMed  Google Scholar 

  125. Ramot Y, Czarnowicki T, Maly A, Navon-Elkan P, Zlotogorski A. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol. 2011;28:538–41.

    PubMed  Google Scholar 

  126. Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, et al. Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2012;64:895–907.

    PubMed  CAS  Google Scholar 

  127. Brown TT. Approach to the human immunodeficiency virus-infected patient with lipodystrophy. J Clin Endocrinol Metab. 2008;93:2937–45.

    PubMed  CAS  Google Scholar 

  128. Mallewa JE, Wilkins E, Vilar J, Mallewa M, Doran D, Back D, et al. HIV-associated lipodystrophy: a review of underlying mechanisms and therapeutic options. J Antimicrob Chemother. 2008;62:648–60.

    PubMed  CAS  Google Scholar 

  129. Kahn MF, Khan MA. The SAPHO syndrome. Baillieres Clin Rheumatol. 1994;8:333–62.

    PubMed  CAS  Google Scholar 

  130. Matzaroglou C, Velissaris D, Karageorgos A, Marangos M, Panagiotopoulos E, Karanikolas M. SAPHO syndrome diagnosis and treatment: report of five cases and review of the literature. Open Orthop J. 2009;3:100–6.

    PubMed  Google Scholar 

  131. Jurik AG, Graudal H. Monarthritis of the manubriosternal joint. A follow-up study. Rheumatol Int. 1987;7:235–41.

    PubMed  CAS  Google Scholar 

  132. Benhamou CL, Chamot AM, Kahn MF. Synovitis-acne-pustulosis hyperostosis-osteomyelitis syndrome (SAPHO). A new syndrome among the spondyloarthropathies? Clin Exp Rheumatol. 1988;6:109–12.

    PubMed  CAS  Google Scholar 

  133. Chamot AM, Benhamou CL, Kahn MF, Beraneck L, Kaplan G, Prost A. Acne-pustulosis-hyperostosis-osteitis syndrome. Results of a national survey. 85 cases. Rev Rhum Mal Osteoartic. 1987;54:187–96.

    PubMed  CAS  Google Scholar 

  134. Sonozaki H, Mitsui H, Miyanaga Y, Okitsu K, Igarashi M, Hayashi Y, et al. Clinical features of 53 cases with pustulotic arthro-osteitis. Ann Rheum Dis. 1981;40:547–53.

    PubMed  CAS  Google Scholar 

  135. Ehrenfeld M, Samra Y, Kaplinsky N. Acne conglobata and arthritis: report of a case and review of the literature. Clin Rheumatol. 1986;5:407–9.

    PubMed  CAS  Google Scholar 

  136. Kahn MF, Bouvier M, Palazzo E, Tebib JG, Colson F. Sternoclavicular pustulotic osteitis (SAPHO). 20-year interval between skin and bone lesions. J Rheumatol. 1991;18:1104–8.

    PubMed  CAS  Google Scholar 

  137. Govoni M, Colina M, Massara A, Trotta F. SAPHO syndrome and infections. Autoimmun Rev. 2009;8:256–9.

    PubMed  CAS  Google Scholar 

  138. Colina M, Pizzirani C, Khodeir M, Falzoni S, Bruschi M, Trotta F, et al. Dysregulation of P2X7 receptor-inflammasome axis in SAPHO syndrome: successful treatment with anakinra. Rheumatology (Oxford). 2010;49:1416–8.

    CAS  Google Scholar 

  139. Wendling D, Prati C, Aubin F. Anakinra treatment of SAPHO syndrome: short-term results of an open study. Ann Rheum Dis. 2012;71:1098–100.

    PubMed  CAS  Google Scholar 

  140. Ben Abdelghani K, Dran DG, Gottenberg JE, Morel J, Sibilia J, Combe B. Tumor necrosis factor-alpha blockers in SAPHO syndrome. J Rheumatol. 2010;37:1699–704.

    PubMed  CAS  Google Scholar 

  141. Bjorksten B, Gustavson KH, Eriksson B, Lindholm A, Nordstrom S. Chronic recurrent multifocal osteomyelitis and pustulosis palmoplantaris. J Pediatr. 1978;93:227–31.

    PubMed  CAS  Google Scholar 

  142. Patterson AC, Bentley-Corbett K. Pustulotic arthrosteitis. J Rheumatol. 1985;12:611–4.

    PubMed  CAS  Google Scholar 

  143. Berbis P, Deharo C, Privat Y. Osteite rhumatismale aseptique associee la pustulose palmoplantaire. Interet de la colchicine. Rev Rhum Mal Osteoartic. 1988;17:1410–1.

    CAS  Google Scholar 

  144. Edlund E, Johnsson U, Lidgren L, Pettersson H, Sturfelt G, Svensson B, et al. Palmoplantar pustulosis and sternocostoclavicular arthro-osteitis. Ann Rheum Dis. 1988;47:809–15.

    PubMed  CAS  Google Scholar 

  145. Siegel D, Strosberg JM, Wiese F, Chen J. Acne fulminans with a lytic bone lesion responsive to dapsone. J Rheumatol. 1982;9:344–6.

    PubMed  CAS  Google Scholar 

  146. Andersson R. Effective treatment with interferon-alpha in chronic recurrent multifocal osteomyelitis. J Interferon Cytokine Res. 1995;15:837–8.

    PubMed  CAS  Google Scholar 

  147. Tsubota H, Kataura A, Kukuminato Y, Hamamoto M, Ohguro S, Shido F, et al. [Efficacy of tonsillectomy for improving skin lesions of Pustulosis palmaris et plantaris–evaluation of 289 cases at the Department of Otolaryngology of Sapporo Medical University]. Nihon Jibiinkoka Gakkai Kaiho. 1994;97:1621–30.

    PubMed  CAS  Google Scholar 

  148. Nakamura T, Oishi M, Johno M, Ono T, Honda M. Serum levels of interleukin 6 in patients with pustulosis palmaris et plantaris. J Dermatol. 1993;20:763–6.

    PubMed  CAS  Google Scholar 

  149. Tinazzi E, Puccetti A, Patuzzo G, Sorleto M, Barbieri A, Lunardi C. Schnitzler syndrome, an autoimmune-autoinflammatory syndrome: report of two new cases and review of the literature. Autoimmun Rev. 2011;10:404–9.

    PubMed  Google Scholar 

  150. de Koning HD, Bodar EJ, van der Meer JW, 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;37:137–48.

    PubMed  Google Scholar 

  151. Janier M, Bonvalet D, Blanc MF, Lemarchand F, Cavelier B, Ribrioux A, et al. Chronic urticaria and macroglobulinemia (Schnitzler’s syndrome): report of two cases. J Am Acad Dermatol. 1989;20:206–11.

    PubMed  CAS  Google Scholar 

  152. Berdy SS, Bloch KJ. Schnitzler’s syndrome: a broader clinical spectrum. J Allergy Clin Immunol. 1991;87:849–54.

    PubMed  CAS  Google Scholar 

  153. Famularo G, Barracchini A, Minisola G. Severe thrombophilia with antiphospholipid syndrome and hyperhomocysteinemia in a patient with Schnitzler’s syndrome. Clin Exp Rheumatol. 2003;21:366–8.

    PubMed  CAS  Google Scholar 

  154. Westhoff TH, Zidek W, Uharek L, Steinhoff-Georgieva J, van der Giet M. Impairment of renal function in Schnitzler’s syndrome. J Nephrol. 2006;19:660–3.

    PubMed  Google Scholar 

  155. Lim W, Shumak KH, Reis M, Perez-Ordonez B, Sauder D, Fam A, et al. Malignant evolution of Schnitzler’s syndrome–chronic urticaria and IgM monoclonal gammopathy: report of a new case and review of the literature. Leuk Lymphoma. 2002;43:181–6.

    PubMed  CAS  Google Scholar 

  156. Cream JJ, Porter D. Urticaria in Waldenstrom’s macroglobulinaemia. J R Soc Med. 1979;72:858–9.

    PubMed  CAS  Google Scholar 

  157. Pujol RM, Barnadas MA, Brunet S, de Moragas JM. Urticarial dermatosis associated with Waldenstrom’s macroglobulinemia. J Am Acad Dermatol. 1989;20:855–7.

    PubMed  CAS  Google Scholar 

  158. Machet L, Vaillant L, Machet MC, Reisenleiter M, Goupille P, Lorette G. Schnitzler’s syndrome (urticaria and macroglobulinemia): evolution to Waldenstrom’s disease is not uncommon. Acta Derm Venereol. 1996;76:413.

    PubMed  CAS  Google Scholar 

  159. Welsh B, Tate B. Schnitzler’s syndrome: report of a case with progression to Waldenstrom’s macroglobulinaemia. Australas J Dermatol. 1999;40:201–3.

    PubMed  CAS  Google Scholar 

  160. Migliorini P, Del Corso I, Tommasi C, Boraschi D. Free circulating interleukin-18 is increased in Schnitzler syndrome: a new autoinflammatory disease? Eur Cytokine Netw. 2009;20:108–11.

    PubMed  CAS  Google Scholar 

  161. Asahina A, Sakurai N, Suzuki Y, Narushima K. Schnitzler’s syndrome with prominent neutrophil infiltration misdiagnosed as Sweet’s syndrome: a typical example of urticarial neutrophilic dermatosis. Clin Exp Dermatol. 2010;35:e123–6.

    PubMed  CAS  Google Scholar 

  162. Pizzirani C, Falzoni S, Govoni M, La Corte R, Donadei S, Di Virgilio F, et al. Dysfunctional inflammasome in Schnitzler’s syndrome. Rheumatology (Oxford). 2009;48:1304–8.

    CAS  Google Scholar 

  163. Cascavilla N, Bisceglia M, D’Arena G. Successful treatment of Schnitzler’s syndrome with anakinra after failure of rituximab trial. Int J Immunopathol Pharmacol. 2010;23:633–6.

    PubMed  CAS  Google Scholar 

  164. Besada E, Nossent H. Dramatic response to IL1-RA treatment in longstanding multidrug resistant Schnitzler’s syndrome: a case report and literature review. Clin Rheumatol. 2010;29:567–71.

    PubMed  Google Scholar 

  165. Kluger N, Riviere S, Guillot B, Bessis D. Efficacy of interleukin 1 receptor antagonist (anakinra) on a refractory case of Schnitzler’s syndrome. Acta Derm Venereol. 2008;88:287–8.

    PubMed  Google Scholar 

  166. Klemmer N, Lenain P, Balguerie X, Le Loet X. Effectiveness of anti-IL1 in Schnitzler’s syndrome. Joint Bone Spine. 2007;74:509–10.

    PubMed  Google Scholar 

  167. Cianchini G, Colonna L, Bergamo F, Angelo C, Puddu P. Efficacy of Psoralen-UV-A therapy in 3 cases of Schnitzler syndrome. Arch Dermatol. 2001;137:1536–7.

    PubMed  CAS  Google Scholar 

  168. Krause K, Feist E, Fiene M, Kallinich T, Maurer M. Complete remission in 3 of 3 anti-IL-6-treated patients with Schnitzler syndrome. J Allergy Clin Immunol. 2012;129:848–50.

    PubMed  Google Scholar 

  169. Martinez-Taboada VM, Fontalba A, Blanco R, Fernandez-Luna JL. Successful treatment of refractory Schnitzler syndrome with anakinra: comment on the article by Hawkins et al. Arthritis Rheum. 2005;52:2226–7.

    PubMed  Google Scholar 

  170. Aikawa NE, Silva CA, Bonfa E, Carvalho JF. Schnitzler’s syndrome improvement after anti-TNF-alpha therapy. Joint Bone Spine. 2010;77:491.

    PubMed  Google Scholar 

  171. Lipsker D, Veran Y, Grunenberger F, Cribier B, Heid E, Grosshans E. The Schnitzler syndrome. Four new cases and review of the literature. Medicine (Baltimore). 2001;80:37–44.

    CAS  Google Scholar 

  172. Germain P, Fach J, Bui N, Traissac T, Delbrel X, Le Bras M, et al. Schnitzler syndrome: a rare cause of systemic urticaria. Rev Med Interne. 2000;21:285–9.

    PubMed  CAS  Google Scholar 

  173. Pascual-Lopez M, Hernandez-Nunez A, Sanchez-Perez J, Fernandez-Herrera J, Garcia-Diez A. Schnitzler’s syndrome with monoclonal IgG kappa gammopathy: good response to cyclosporin. J Eur Acad Dermatol Venereol. 2002;16:267–70.

    PubMed  CAS  Google Scholar 

  174. Worm M, Kolde G. Schnitzler’s syndrome: successful treatment of two patients using thalidomide. Br J Dermatol. 2003;148:601–2.

    PubMed  CAS  Google Scholar 

  175. de Koning HD, Bodar EJ, Simon A, van der Hilst JC, Netea MG, van der Meer JW. Beneficial response to anakinra and thalidomide in Schnitzler’s syndrome. Ann Rheum Dis. 2006;65:542–4.

    PubMed  Google Scholar 

  176. Schartz NE, Buder S, Sperl H, Audring H, Paus R, Tebbe B, et al. Report of a case of Schnitzler’s syndrome treated successfully with interferon alpha 2b. Dermatology. 2002;205:54–6.

    PubMed  Google Scholar 

  177. Kuenzli S, Buchet S, Saurat JH. Successful treatment of Schnitzler’s syndrome with interferon alfa-2b. Dermatology. 2002;205:74.

    PubMed  CAS  Google Scholar 

  178. Yokota S, Miyamae T, Imagawa T, Iwata N, Katakura S, Mori M. Inflammatory cytokines and systemic-onset juvenile idiopathic arthritis. Mod Rheumatol. 2004;14:12–7.

    PubMed  Google Scholar 

  179. Frosch M, Roth J. New insights in systemic juvenile idiopathic arthritis–from pathophysiology to treatment. Rheumatology (Oxford). 2008;47:121–5.

    CAS  Google Scholar 

  180. Pay S, Turkcapar N, Kalyoncu M, Simsek I, Beyan E, Ertenli I, et al. A multicenter study of patients with adult-onset Still’s disease compared with systemic juvenile idiopathic arthritis. Clin Rheumatol. 2006;25:639–44.

    PubMed  Google Scholar 

  181. Ghosh JB, Gupta D, Chattopadhyay N. Systemic onset juvenile idiopathic arthritis–its unusual presentation. Indian J Pediatr. 2008;75:400–2.

    PubMed  CAS  Google Scholar 

  182. Muskardin TW, Binstadt BA. Malar rash in systemic juvenile idiopathic arthritis. J Rheumatol. 2010;37:2187.

    PubMed  Google Scholar 

  183. Frosch M, Metze D, Foell D, Vogl T, Sorg C, Sunderkotter C, et al. Early activation of cutaneous vessels and epithelial cells is characteristic of acute systemic onset juvenile idiopathic arthritis. Exp Dermatol. 2005;14:259–65.

    PubMed  Google Scholar 

  184. Lequerre T, Quartier P, Rosellini D, Alaoui F, De Bandt M, Mejjad O, et al. Interleukin-1 receptor antagonist (anakinra) treatment in patients with systemic-onset juvenile idiopathic arthritis or adult onset Still disease: preliminary experience in France. Ann Rheum Dis. 2008;67:302–8.

    PubMed  CAS  Google Scholar 

  185. Pascual V, Allantaz F, Arce E, Punaro M, Banchereau J. Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med. 2005;201:1479–86.

    PubMed  CAS  Google Scholar 

  186. Quartier P, Allantaz F, Cimaz R, Pillet P, Messiaen C, Bardin C, et al. A multicentre, randomised, double-blind, placebo-controlled trial with the interleukin-1 receptor antagonist anakinra in patients with systemic-onset juvenile idiopathic arthritis (ANAJIS trial). Ann Rheum Dis. 2011;70:747–54.

    PubMed  CAS  Google Scholar 

  187. Grattan CE, Sabroe RA, Greaves MW. Chronic urticaria. J Am Acad Dermatol. 2002;46:645–57; quiz 57–60.

    PubMed  Google Scholar 

  188. Schafer T, Ring J. Epidemiology of urticaria. Monogr Allergy. 1993;31:49–60.

    PubMed  CAS  Google Scholar 

  189. Sabroe RA, Seed PT, Francis DM, Barr RM, Black AK, Greaves MW. Chronic idiopathic urticaria: comparison of the clinical features of patients with and without anti-FcepsilonRI or anti-IgE autoantibodies. J Am Acad Dermatol. 1999;40:443–50.

    PubMed  CAS  Google Scholar 

  190. Leznoff A, Sussman GL. Syndrome of idiopathic chronic urticaria and angioedema with thyroid autoimmunity: a study of 90 patients. J Allergy Clin Immunol. 1989;84:66–71.

    PubMed  CAS  Google Scholar 

  191. Zitelli KB, Cordoro KM. Evidence-based evaluation and management of chronic urticaria in children. Pediatr Dermatol. 2011;28:629–39.

    PubMed  Google Scholar 

  192. Kozel MM, Bossuyt PM, Mekkes JR, Bos JD. Laboratory tests and identified diagnoses in patients with physical and chronic urticaria and angioedema: A systematic review. J Am Acad Dermatol. 2003;48:409–16.

    PubMed  Google Scholar 

  193. Jones RR, Bhogal B, Dash A, Schifferli J. Urticaria and vasculitis: a continuum of histological and immunopathological changes. Br J Dermatol. 1983;108:695–703.

    PubMed  CAS  Google Scholar 

  194. Krause K, Grattan CE, Bindslev-Jensen C, Gattorno M, Kallinich T, de Koning HD, et al. How not to miss autoinflammatory diseases masquerading as urticaria. Allergy. 2012;67(12):1465–74.

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Dermatology, University of New Mexico, 1021 Medical Arts Ave NE, Albuquerque, NM, 87102, USA

    Tien V. Nguyen BA

  2. Department of Dermatology, University of California, UCSF School of Medicine, 0316, San Francisco, CA, 94143, USA

    Kieron S. Leslie DTM&H, FRCP

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  1. Pediatric & Adolescent Dermatology, Rady Children's Hospital, San Diego, California, USA

    Wynnis L. Tom

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Nguyen, T.V., Leslie, K.S. (2014). Autoinflammatory Syndromes. In: Tom, W. (eds) Severe Skin Diseases in Children. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-39532-1_7

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