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Monogenic Autoinflammatory Syndromes

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A Clinician's Pearls & Myths in Rheumatology

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References

  • Ahmadi N, Brewer CC, Zalewski C, et al. Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations. Otolaryngol Head Neck Surg. 2011;145(2):295–302.

    PubMed  PubMed Central  Google Scholar 

  • Akpolat T, Özkaya O, Özen S. Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients. Gene. 2012;492(1):285–9.

    CAS  PubMed  Google Scholar 

  • Aksentijevich I, Schnappauf O. Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases. Nat Rev Rheumatol. 2021;17(7):405–25.

    CAS  PubMed  Google Scholar 

  • Aksentijevich I, Zhou Q. NF-κB pathway in autoinflammatory diseases: dysregulation of protein modifications by ubiquitin defines a new category of autoinflammatory diseases. Front Immunol. 2017;8:39. PMID: 28469620.

    Google Scholar 

  • Aldea A. Am J Med Genet. 2004.

    Google Scholar 

  • Alehashemi S, Goldbach-Mansky R. Human autoinflammatory diseases mediated by NLRP3-, Pyrin-, NLRP1-, and NLRC4-Inflammasome dysregulation updates on diagnosis, treatment, and the respective roles of IL-1 and IL-18. Front Immunol. 2020;11:1840.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Alghamdi M. Familial Mediterranean fever, review of the literature. Clin Rheumatol Rheumatol. 2017;36:1707–13.

    Google Scholar 

  • Almeida MQ, Tsang KM, Cheadle C, et al. Protein kinase A regulates caspase-1 via Ets-1 in bone stromal cell-derived lesions: a link between cyclic AMP and pro-inflammatory pathways in osteoblast progenitors. Hum Mol Genet. 2011;20(1):165–75.

    CAS  PubMed  Google Scholar 

  • Alsarah A, Alsara O, Laird-Fick HS. Cardiac manifestations of familial Mediterranean fever. Avicenna J Med. 2017;7(4):158–63.

    PubMed  PubMed Central  Google Scholar 

  • Ammouri W, Cuisset L, Rouaghe S, et al. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper-IgD syndrome. Rheumatology (Oxford). 2007;46(10):1597–600.

    CAS  PubMed  Google Scholar 

  • Andronikou S, Kraft JK, Offiah AC, et al. Whole-body MRI in the diagnosis of pediatric CNO/CRMO. Rheumatology (Oxford). 2020;59(10):2671–80.

    PubMed  Google Scholar 

  • Arostegui JI, Solis P, Aldea A, et al. Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response. Eur J Pediatr. 2005;164(1):13–6.

    CAS  PubMed  Google Scholar 

  • Arostegui JI, Anton J, Calvo I, et al. Open-Label, Phase II Study to assess the efficacy and safety of canakinumab treatment in active hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheumatol. 2017;69(8):1679–88.

    CAS  PubMed  Google Scholar 

  • Atoyan S, Hayrapetyan H, Sarkisian T, et al. MEFV and SAA1 genotype associations with clinical features of familial Mediterranean fever and amyloidosis in Armenia. Clin Exp Rheumatol. 2016;34(6):72–6.

    PubMed  Google Scholar 

  • Audu GK, Nikaki K, Crespi D, et al. Chronic recurrent multifocal osteomyelitis and inflammatory bowel diseases. J Pediatr Gastroenterol Nutr. 2015;60:586–91.

    CAS  PubMed  Google Scholar 

  • Badran YR, Dedeoglu F, Leyva Castillo JM, et al. Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. J Exp Med. 2017;214(7):1937–47.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Balci B, Tinaztepe K, Yilmaz E, et al. MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. Nephrol Dialys Transpl. 2002;17(11):1921–3.

    CAS  Google Scholar 

  • Balcı-Peynircioğlu B, Kaya-Akça U, Serap-Arıcı Z, et al. Comorbidities in familial Mediterranean fever: analysis of 2000 genetically confirmed patients. Rheumatology (Oxford). 2020;59(6):1372–80.

    PubMed  Google Scholar 

  • Beck DB, Ferrada MA, Sikora KA, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628–38.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Ben-Chetrit E. Familial Mediterranean fever (FMF) and renal AA amyloidosis--phenotype-genotype correlation, treatment, and prognosis. J Nephrol. 2003;16(3):431–4.

    CAS  PubMed  Google Scholar 

  • Ben-Chetrit E, Peleg H, Aamar S, Heyman S. The spectrum of MEFV clinical presentations – is it FMF only? Rheumatology. 2009;48:1455–9.

    Google Scholar 

  • Ben-Chetrit E, Ben-Chetrit A, Berkun Y, Ben-Chetrit E. Pregnancy outcomes in women with familial Mediterranean fever receiving colchicine: is amniocentesis justified? Arthritis Care Res. 2010;62:143–8.

    Google Scholar 

  • Ben-Chetrit E, Ben-Chetrit A, Berkun Y, Ben-Chetrit E. Pregnancy outcomes in Ben-Chetrit E, Yazici H familial Mediterranean fever: different faces around the world. Clin Exp Rheumatol. 2019;37(Suppl. 121):S18–22.

    Google Scholar 

  • Ben-Zvi I, Krichely-Vachdi T, Feld O, Lidar M, Kivity S, Livneh A. Colchicine-free remission in familial Mediterranean fever: featuring a unique subset of the disease-a case control. Orphanet J Rare Dis. 2014;9:3.

    PubMed  PubMed Central  Google Scholar 

  • Booshehri LM, Hoffman HM. CAPS and NLRP3. J Clin Immunol. 2019;39:277–86.

    PubMed  PubMed Central  Google Scholar 

  • Bourbon E, Heiblig M, Gerfaud Valentin M, et al. Therapeutic options in VEXAS syndrome: insights from a retrospective series. Blood. 2021;137(26):3682–4.

    CAS  PubMed  Google Scholar 

  • Boursier G, Rittore C, Milhavet F, et al. Mevalonate kinase-associated diseases: hunting for phenotype-genotype correlation. J Clin Med. 2021a;10(8):1552.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Boursier G, Piram M, Rittore C, et al. Phenotypic associations of PSTPIP1 sequence variants in PSTPIP1-associated autoinflammatory diseases. J Invest Dermatol. 2021b;141(5):1141–7.

    CAS  PubMed  Google Scholar 

  • Brik R, Litmanovitz D, Berkowitz D, et al. Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain. J Pediatr. 2001;138:759–62.

    CAS  PubMed  Google Scholar 

  • Cantarini L, Rigante D, Merlini G, Vitale A, Caso F, Lucherini OM, Sfriso P, Frediani B, Punzi L, Galeazzi M, Cimaz R, Obici L. The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up. Semin Arthritis Rheum. 2014;43(6):818–2. PMID: 24393624.

    Google Scholar 

  • Celkan T, Celik M, Kasapçopur O, et al. The anemia of familial Mediterranean fever disease. Pediatr Hematol Oncol. 2005;22(8):657–65.

    PubMed  Google Scholar 

  • Chavan P, Aksentijevich I, Daftary A, et al. Majeed syndrome-five cases with novel mutations from unrelated families in India with a review of literature. J Rheumatol. 2021;48(12):1850–5.

    CAS  PubMed  Google Scholar 

  • Chen Y, Ye Z, Chen L, et al. Association of clinical phenotypes in haploinsufficiency A20 (HA20) with disrupted domains of A20. Front Immunol. 2020;11:574992.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Chrcanovic BR, Guimaraes LM, Gomes CC, et al. Cherubism: a systemic literature review of clinical and molecular aspects. Int J Oral Maxillofac Surg. 2021;50(1):43–50.

    CAS  PubMed  Google Scholar 

  • Cox AJ, Ferguson PJ. Update on the genetics of nonbacterial osteomyelitis in humans. Curr Opin Rheumatol. 2018;30:521–5.

    CAS  PubMed  Google Scholar 

  • Cox AJ, Darbro BW, Laxer RM, et al. Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). PLoS One. 2017;12(3):e0169687.

    PubMed  PubMed Central  Google Scholar 

  • Cudrici C, Deuitch N, Aksentijevich I. Revisiting TNF receptor-associated periodic syndrome (TRAPS): current perspectives. Int J Mol Sci. 2020;21(9):3263.

    CAS  PubMed  PubMed Central  Google Scholar 

  • D’Osualdo A, Ferlito F, Prigione I, et al. Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis - pathogenetic and clinical implications. Arthritis Rheum. 2006;54(3):998–1008.

    Google Scholar 

  • De Benedetti F, Gattorno M, Anton J, et al. Canakinumab for the treatment of autoinflammatory recurrent fever syndromes. N Engl J Med. 2018a;378:1908–19.

    PubMed  Google Scholar 

  • De Benedetti F, Gattorno M, Anton J, Ben-Chetrit E, et al. Canakinumab for the treatment of autoinflammatory recurrent fever syndromes “cluster study” N. Engl J Med. 2018b;378:1908–19.

    Google Scholar 

  • Delaleu J, Deshayes S, Rodrigues F, et al. Tumor necrosis factor receptor-1 associated periodic syndrome (TRAPS) related AA amyloidosis: a national case series and systematic review. Rheumatol (Oxford). 2021;60(12):5775–84.

    CAS  Google Scholar 

  • Deshayes S, Georgine-Lavialle S, Hot A, et al. Efficacy of continuous interleukin 1 blockade in mevalonate kinase deficiency: a multicenter retrospective study in 13 adult patients and literature review. J Rheumatol. 2018;45(3):425–9.

    CAS  PubMed  Google Scholar 

  • Diav-Citrin O, Shechtman S, Schwartz V, Avgil-Tsadok M, Finkel-Pekarsky V, El-Shanti H, Majeed HA, El-Khateeb M. Familial mediterranean fever in Arabs. Lancet. 2006;367:1016–24.

    Google Scholar 

  • Duncan CJA, Dinnigan E, Theobald R, et al. Early onset autoimmune diseases due to a heterozygous loss-of -function mutation in TNFAIP3 (A20). Ann Rheum Dis. 2017;77(5):783–6.

    PubMed  Google Scholar 

  • El-Shanti H, Majeed HA, El-Khateeb M. Familial Mediterranean fever in Arabs. Lancet. 2006;367:1016–24.

    PubMed  Google Scholar 

  • Fradkin A, Yahav J, Zemer D, et al. Colchicine-induced lactose malabsorption in patients with familial Mediterranean fever. Isr J Med Sci. 1995;31(10):616–20.

    CAS  PubMed  Google Scholar 

  • Galon J, Aksentijevich I, McDermott MF, et al. TNFRSF1 mutations and autoinflammatory syndromes. Curr Opin Immunol. 2000;12(4):479–86.

    CAS  PubMed  Google Scholar 

  • Gattorno M, Pelagatti MA, Meini A, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008a;58(5):1516–20.

    CAS  PubMed  Google Scholar 

  • Gattorno M, Sormani MP, D’Osualdo A, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008b;58(6):1823–32.

    CAS  PubMed  Google Scholar 

  • Gattorno M, Obici L, Cattalini M, et al. Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): an open-label, phase II study. Ann Rheum Dis. 2017;76(1):173–8.

    CAS  PubMed  Google Scholar 

  • Gattorno M, Hofer M, Federici S, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019;78(8):1025–32. https://doi.org/10.1136/annrheumdis-2019-215048.

    Article  CAS  PubMed  Google Scholar 

  • Gemici AI, Sevindik OG, Akar S, Tunca M. Vitamin B12 levels in familial Mediterranean fever patients treated with colchicine. Clin Exp Rheumatol. 2013;31(3 Suppl 77):57–9.

    PubMed  Google Scholar 

  • Giardino S, Lanino E, Morreale G, et al. Long-term outcome of a successful cord blood stem cell transplant in mevalonate kinase deficiency. Pediatrics. 2015;135(1):e211–5.

    PubMed  Google Scholar 

  • Goldbach-Mansky R, Dailey NJ, Canna SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355(6):581–92.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Govindaraj GM, Jain A, Peethambaran G, et al. Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome. PLoS One. 2020;15(8):e0237999.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Grossman C, Kassel Y, Livneh A, et al. Familial Mediterranean fever phenotype in patients homozygous to the MEFV M694V mutation. Eur J Med Genet. 2019;62(6):103532.

    PubMed  Google Scholar 

  • Gusdorf L, Lipsker D. Neutrophilic urticarial dermatosis: an entity bridging monogenic and polygenic autoinflammatory disorders, and beyond. J Eur Acad Dermatol Venereol. 2020;34(4):685–90.

    CAS  PubMed  Google Scholar 

  • Haimov-Kochman R, Ben-Chetrit E. The effect of colchicine treatment on sperm production and function - a review. Hum Reprod. 1998;13:360–2.

    CAS  PubMed  Google Scholar 

  • Hentgen V, Grateau G, Stankovic-Stojanovic K, Amselem S, Jéru I. Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children? Arthritis Rheum. 2013;65(6):1654–62.

    PubMed  Google Scholar 

  • Hochstadter EF, Ben-Shoshan M. Cold-induced urticaria: challenges in diagnosis and management. BMJ Case Rep. 2013;2013:bcr2103010441.

    Google Scholar 

  • Holzinger D, et al. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Imunol. 2015;1(36):337–1345.

    Google Scholar 

  • Honda Y, Maeda Y, Izawa K, et al. Rapid flow cytometry-based assay for the functional classification of MEFV variants. J Clin Immunol. 2021;41(6):1187–97.

    CAS  PubMed  Google Scholar 

  • Houx L, Hachulla E, Kone-Paut I, et al. Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study. Arthritis Rheumatol. 2015;67(11):3027–36.

    CAS  PubMed  Google Scholar 

  • Indraratna PL, Virk S, Gurram D, et al. Use of colchicine in pregnancy: a systematic review and meta-analysis. Rheumatology (Oxford). 2018;57(2):382–7.

    CAS  PubMed  Google Scholar 

  • Jacobelli S, Andre M, Alexandra JF, et al. Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology (Oxford). 2007;46(7):1211–2.

    CAS  PubMed  Google Scholar 

  • Jéru I, Hentgen V, Cochet E, et al. The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach. PLoS One. 2013;8(7):e68431.

    PubMed  PubMed Central  Google Scholar 

  • Jeyaratnam J, Frenkel J. Management of mevalonate kinase deficiency: a pediatric perspective. Front Immunol. 2020;11:1150.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Kadowaki T, Ohnishi H, Kawamato N, et al. Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. J Allergy Clin Immunol. 2018;141:1485–8.

    CAS  PubMed  Google Scholar 

  • Kallinich T, Haffner D, Rudolph B, et al. “Periodic fever” without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis. Ann Rheum Dis. 2006;65(7):958–60.

    CAS  PubMed  Google Scholar 

  • Kallinich T, Haffner D, Niehues T, et al. Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics. 2007;119(2):e474–83.

    PubMed  Google Scholar 

  • Karacan İ, Uğurlu S, Tolun A, Tahir Turanlı E, Ozdogan H. Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF. Clin Exp Rheumatol. 2017;35 Suppl 108(6):75–81.

    Google Scholar 

  • Korkmaz C, Özdogan H, Kasapçopur Ö, Yazici H. Acute phase response in familial Mediterranean fever. Ann Rheum Dis. 2002;61:79–8.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Kuemmerle-Deschner JB, Ramos E, Blank N, et al. Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS). Arthritis Res Ther. 2011;13(1):R34.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Kuemmerle-Deschner JB, Hofer F, Endres T, et al. Real-lifer effectiveness of canakinumab in cryopyrin-associated periodic syndromes. Rheumatology (Oxford). 2016;55(4):689–96.

    CAS  PubMed  Google Scholar 

  • Kuemmerle-Deschner JB, Ozen S, Tyrrell PN. Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). Ann Rheum Dis. 2017;76(6):942–7.

    PubMed  Google Scholar 

  • Kukuy O, Livneh A, Ben-David A, et al. Familial Mediterranean fever (FMF) with proteinuria: clinical features, histology, predictors, and prognosis in a cohort of 25 patients. J Rheumatol. 2013;40(12):2083–7. https://doi.org/10.3899/jrheum.130520. Epub 2013 Oct 15.

    Article  CAS  PubMed  Google Scholar 

  • Lachmann HJ, Sengul B, Yavuzsen TU, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford). 2006;45:746–50.

    CAS  PubMed  Google Scholar 

  • Lidar M, Kedem R, Mor A, et al. Arthritis as the sole episodic manifestation of familial Mediterranean fever. J Rheumatol. 2005;32(5):859–62.

    PubMed  Google Scholar 

  • Lytle A, Bagg A. VEXAS; a vivid new syndrome associated with vacuoles in various hematopoietic cells. Blood. 2021;137(26):3690.

    CAS  PubMed  Google Scholar 

  • Marchado RA, Pontes HAR, Pires HM, et al. Clinical and genetic analysis of patients with cherubism. Oral Dis. 2017;23(8):1109–15.

    Google Scholar 

  • Marzano AV, Damiani G, Ceccherini I, et al. Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis). Br J Dermatol. 2017;176:1588–98.

    CAS  PubMed  Google Scholar 

  • Masters SL, Lagou V, Jeru I, et al. Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Sci Transl Med. 2016;8:332ra45.

    PubMed  Google Scholar 

  • McDermott MF, Aksentijevich I, Galon J, 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(1):133–44.

    CAS  PubMed  Google Scholar 

  • Medlej-Hashim M, Delague V, Nabiha Salem E, et al. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. BMC Med Genet. 2004;5:4.

    PubMed  PubMed Central  Google Scholar 

  • Migita K, Izumi Y, Jiuchi Y, et al. Familial Mediterranean fever is no longer a rare disease in Japan. Arthritis Res Ther. 2016;30(18):175.

    Google Scholar 

  • Mimouni A, Magal N, Stoffman N, et al. Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis. Pediatrics. 2000;105(5):E70.

    CAS  PubMed  Google Scholar 

  • Mistry P, Carmona-Rivera C, Ombrello AK, et al. Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome. Ann Rheum Dis. 2018;77(12):1825–33.

    CAS  PubMed  Google Scholar 

  • Morbach H, Hedrich CM, Beer M, et al. Autoinflammatory bone disorders. Clin Imunol. 2013;147(3):185–96.

    CAS  Google Scholar 

  • Nakanishi H, Kawashima Y, Kurima K, et al. NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. Proc Natl Acad Sci U S A. 2017;114(37):e7766–75.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Nakanishi H, Prakash P, Ito T, et al. Genetic hearing loss associated with autoinflammation. Front Neurol. 2020;11:41.

    Google Scholar 

  • Neven B, Valayannopoulos V, Quartier P, et al. Allogeneic bone marrow transplantation in mevalonic aciduria. NEJM. 2007;356(26):2700–3.

    CAS  PubMed  Google Scholar 

  • Obici L, Merlini G. Amyloidosis in autoinflammatory syndromes. Autoimmun Rev. 2012;12(1):14–7.

    CAS  PubMed  Google Scholar 

  • Omenetti A, Carta S, Caorsi R, et al. Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome. Rheumatology (Oxford). 2016;55:1325–35.

    CAS  PubMed  Google Scholar 

  • Ozen S, Kone-Paut I, Gul A. Colchicine resistance and intolerance in familial Mediterranean fever: definition, causes, and alternative treatments. Semin Arthritis Rheum. 2017;47(1):115–20.

    CAS  PubMed  Google Scholar 

  • Özen S, Sag E, Ben-Chetrit E, et al. Defining colchicine resistance/intolerance in patients with familial Mediterranean fever: a Delphi consensus approach. Rheumatology (Oxford). 2020;60(8):3799–808. https://doi.org/10.1093/rheumatology/keaa863.

    Article  CAS  Google Scholar 

  • Ozkan Y, Varol A, Turker N, et al. Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature. Int J Pediatr Otorhinolaryngol. 2003;67(9):1005–12.

    PubMed  Google Scholar 

  • Park YH, Remmers EF, Lee W, et al. Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis. Nat Immunol. 2020;21:857–67.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Pelagatti MA, Meini A, Caorsi R, et al. Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis Rheumatol. 2011;63(4):1151–0.

    Google Scholar 

  • Peleg H, Ben-Chetrit E. The kidney in FMF. J Rheumatol. 2013;40(12):1948–50. https://doi.org/10.1186/1471-2350-5-4.

    Article  CAS  PubMed  Google Scholar 

  • Pham M, Ressler S, Rosenthal A, et al. Classical Hodgkin lymphoma masquerading as chronic recurrent multifocal osteomyelitis: a case report. J Med Case Rep. 2017;11(1):45.

    PubMed  PubMed Central  Google Scholar 

  • Rowczenio DM, Iancu DS, Trojer H, et al. Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration. Rheumatology (Oxford). 2017a;56(2):209–13.

    CAS  PubMed  Google Scholar 

  • Rowczenio DM, Gomes SM, Arostegui JI, et al. Late-onset cryopyrin-associated periodic syndromes caused by somatic NLRP3 mosaicism-UK single center experience. Front Immunol. 2017b;80:1410.

    Google Scholar 

  • Ruiz-Ortiz E, Iglesias E, Soriano A, et al. Disease phenotype and outcome depending on the age at disease onset in patients carrying the R92Q low-penetrance variant in TNFRSF1A gene. Front Immunol. 2017;8:299.

    PubMed  PubMed Central  Google Scholar 

  • Sarı I, Birlik M, Kasifoğlu T. Familial Mediterranean fever: an updated review. Eur J Rheumatol. 2014;1(1):21–33. https://doi.org/10.5152/eurjrheum.2014.006. Epub 2014 Mar 1.

    Article  PubMed  PubMed Central  Google Scholar 

  • Sarkisian T, Ajrapetian H, Beglarian A, Shahsuvarian G, Egiazarian A. Familial Mediterranean fever in Armenian population. Georgian Med News. 2008;156:105–11.

    Google Scholar 

  • Sato TS, Watal P, Ferguson PJ. Imaging mimics of. Chronic recurrent multifocal osteomyelitis; avoiding pitfalls in a diagnosis of exclusion. Pediatr Radiol. 2020;50(1):124–36.

    PubMed  Google Scholar 

  • Schnabel A, Range U, Hahn G, et al. Treatment response and outcomes in children with chronic nonbacterial osteomyelitis. J Rheumatol. 2017;44(7):1058–65.

    CAS  PubMed  Google Scholar 

  • Schnappauf O, Chae JJ, Kastner DL, et al. The pyrin inflammasome in health and diseases. Front Immunol. 2019;10:1745.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Sevoyan MK, Sarkisian TF, Beglaryan AA, Shahsuvaryan GR, Armenian HK. Prevention of amyloidosis in familial Mediterranean fever with colchicine: a case-control study in Armenia. Med Princ Pract. 2009;18(6):441–6. https://doi.org/10.1159/000235892.

    Article  PubMed  Google Scholar 

  • Shimizu M, Tone T, Toga A, et al. Colchicine-responsive chronic recurrent multi focal osteomyelitis with MEFV mutations: a variant of familial Mediterranean fever? Rheumatology. 2010;49:2221–3.

    CAS  PubMed  Google Scholar 

  • Shinar Y, Ceccherini I, Rowczenio D, et al. ISSAID/EMQN best practice guidelines for the genetic diagnosis of monogenic autoinflammatory diseases in the next-generation sequencing era. Clin Chem. 2020;66:525–36.

    PubMed  Google Scholar 

  • Sibley CH, Plass N, Snow J, et al. Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes. Arthritis Rheum. 2012;64(7):2375–86.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Sibley CH, Chioato A, Felix S, et al. A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease. Ann Rheum Dis. 2015;74(9):1714–9.

    CAS  PubMed  Google Scholar 

  • Sotskiy PO, Sotskaya OL, Hayrapetyan HS, et al. Infertility causes and pregnancy outcome in patients with familial Mediterranean fever (FMF) and controls. J Rheumatol. 2021;48:608–14.

    PubMed  Google Scholar 

  • Tanaka N, Izawa K, Saito MK, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011;63:3625–32.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Tanaka T, Yoshioka K, Nishikomori R, et al. National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics. Mod Rheumatol. 2019;29(1):181–7.

    CAS  PubMed  Google Scholar 

  • Ter Haar NM, Jeyaratnam J, Lachmann HJ, et al. The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the Eurofever registry. Arthritis Rheum. 2016;68(11):2795–805.

    Google Scholar 

  • Terkeltaub TA, Furst DE, DiGiacinto JL, Kook KA, Davis MW. Novel evidence-based colchicine dose-reduction algorithm to predict and prevent colchicine toxicity in the presence of cytochrome P450 3A4/P-glycoprotein inhibition. Arthritis Rheum. 2011;63:2226–37.

    CAS  PubMed  Google Scholar 

  • Tlougen BE, Podjasek JO, O’Haver J, et al. Chronic recurrent multifocal osteomyelitis (CRMO) and synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome with associated neutrophilic dermatoses: a report of seven cases and review of the literature. Pediatr Dermatol. 2009;26(5):497–505.

    Google Scholar 

  • Touitou I, Sarrabay G. Criteria for CAPS, is it all in the name? Ann Rheum Dis. 2017;76(5):e9.

    PubMed  Google Scholar 

  • Touitou I, Sarkisian T, Medlej-Hashim M, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007;56(5):1706–12.

    PubMed  Google Scholar 

  • Ueki Y, Lin CY, Senoo M, et al. Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 “cherubism” mice. Cell. 2007;128:71–83.

    CAS  PubMed  Google Scholar 

  • van der Meer JW, Vossen JM, Radl J, et al. Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet. 1984;1(8386):1087–90.

    PubMed  Google Scholar 

  • Van Gorp H, et al. Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever. Ann Rheum Dis. 2020;79:960–8.

    PubMed  Google Scholar 

  • Williamson LM, Hull D, Mehta R, et al. Familial Hibernian fever. Q J Med. 1982;51(204):469–80.

    CAS  PubMed  Google Scholar 

  • Zhang S. Natural history of mevalonate kinase deficiency: a literature review. Pediatr Rheumatol Online J. 2016;14(1):30.

    PubMed  PubMed Central  Google Scholar 

  • Zhao DY, McCAnn L, Hahn G, et al. Chronic nonbacterial osteomyelitis (CNO) and chronic recurrent multifocal osteomyelitis (CRMO). J Transl Autoimmun. 2021;4:100095.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Zhou Q, Wang H, Schwartz DM, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016;48:67–73.

    CAS  PubMed  Google Scholar 

  • Znajdek M, Gazda A, Gietka P, et al. Juvenile spondyloarthritis and chronic recurrent multifocal osteomyelitis overlap syndrome in a 16-year-old adolescent. A case report and literature review. J Ultrason. 2019;19(77):152–7.

    PubMed  PubMed Central  Google Scholar 

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Acknowledgments

We would like to thank Dr. Daniel Kastner for sharing his expertise and suggestions for the myths and pearls in the FMF section. We also thank Drs. Marco Gattorno, Alberto Martini, Raphaela Goldbach-Mansky, Pamela Aubert, and Polly J. Ferguson for their contributions to the first edition of this chapter.

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Authors and Affiliations

  1. Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, USA

    Ivona Aksentijevich

  2. Rheumatology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

    Eldad Ben-Chetrit

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  1. Ivona Aksentijevich
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  2. Eldad Ben-Chetrit
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Correspondence to Ivona Aksentijevich .

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Editors and Affiliations

  1. Massachusetts General Hospital, Harvard University Massachusetts General Hospital, Boston, MA, USA

    John H. Stone

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Aksentijevich, I., Ben-Chetrit, E. (2023). Monogenic Autoinflammatory Syndromes. In: Stone, J.H. (eds) A Clinician's Pearls & Myths in Rheumatology. Springer, Cham. https://doi.org/10.1007/978-3-031-23488-0_5

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