nach oben

Journal of Clinical Immunology

Erschienen in:

01.05.2008

Autoinflammatory Diseases: Mimics of Autoimmunity or Part of its Spectrum? Case Presentation

Erschienen in: Journal of Clinical Immunology | Sonderheft 1/2008

Einloggen, um Zugang zu erhalten

Abstract

Introduction:

Autoinflammatory diseases are very rare diseases presenting within a wide clinical spectrum. Recognition of the main clinical features are challenging due to overlapping or mimicking with autoimmune diseases.

Discussion:

A case series is reviewed to illustrate typical and atypical features and the difficulties of these diagnoses in the low prevalence areas—a typical unrecognized case of familial Mediterranean fever (FMF) in a youngster, an atypical adult case with overlapping of FMF with Behçet disease, and an early presentation of FMF in infant presenting with inflammatory colitis, as well as the overlapping features within the cryopirin diseases spectrum in an 8-year-old boy who presented with systemic onset arthritis.

Conclusion:

These cases may represent examples of a very puzzling relationship among disorders of innate and adaptive immune systems and inflammation.

Gattorno M, Federici S, Pelagatti MA et al. Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol Suppl 2008 (in press).

Samuels J, Ozen S. Familial Mediterranean fever and other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheumatol 2006;18:108–17.PubMedCrossRef

Rabinovich E, Shinar Y, Leiba M, Ehrenfeld M, Langevitz P, Livneh A. Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis. Scand J Rheumatol 2007;36:48–52.PubMedCrossRef

Koné-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou I. Autoinflammatory gene mutations in Behçet's disease. Ann Rheum Dis 2007;66:832–4.PubMedCrossRef

Imirzalioglu N, Dursun A, Tastan B, Soysal Y, Yakicier MC. MEFV gene is a probable susceptibility gene for Behçet’s disease. Scand J Rheumatol 2005;34:56–8.PubMedCrossRef

Giaglis S, Mimidis K, Papadopoulos V, Thomopoulos K, Sidiropoulos P, Rafail S, Nikolopoulou V, Fragouli E, Kartalis G, Tzioufas A, Boumpas D, Ritis K. Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect? Dig Dis Sci 2006;51:687–92.PubMedCrossRef

Sari S, Egritas O, Dalgic B. The familial Mediterranean fever (MEFV) gene may be a modifier factor of inflammatory bowel disease in infancy. Eur J Pediatr. 2007 May 23 [Epub ahead of print].

Ansell BM, Bywaters EGL, Elderkin FM. Familial arthropathy with rash, uveitis and mental retardation. Proc Royal Soc Med 1975;68:24–5.

Prieur AM, Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr 1981;99:79–83.PubMedCrossRef

10.

Yarom A, Rennebohm RM, Levinson JE. Infantile multisystem inflammatory disease: a specific syndrome? J Pediatr 1985;106(3):390–6.PubMedCrossRef

11.

Travers R, Allen R. Chronic infantile neurological cutaneous and articular syndrome—an early description. J Rheumatol 2006;33:822–4.PubMed

12.

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. Nov.PubMedCrossRef

13.

Hentgen V, Despert V, Leprêtre AC, Cuisset L, Chevrant-Breton J, Jégo P, Chalès G, Gall EL, Delpech M, Grateau G. Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. J Rheumatol. 2005;32(4):747–51.PubMed

14.

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.PubMedCrossRef

15.

Aróstegui JI, Aldea A, Modesto C, Rua MJ, Argüelles F, González-Enseñat MA, Ramos E, Rius J, Plaza S, Vives J, Yagüe J. Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. Arthritis Rheum 2004;50:4045–50.PubMedCrossRef

16.

Aksentijevich I, D Putnam C, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007;56(4):1273–85.PubMedCrossRef

17.

Lequerré T, Vittecoq O, Saugier-Veber P, Goldenberg A, Patoz P, Frébourg T, Le Loët X. A cryopyrin-associated periodic syndrome with joint destruction. Rheumatology (Oxford) 2007;46(4):709–14.CrossRef

18.

Ferguson PJ, El-Shanti HI. Autoinflammatory bone disorders. Curr Opin Rheumatol 2007;19:492–8.PubMedCrossRef

19.

Bergdahal K, Bjorksten B, Gustavson KH, et al. Pustulosis palmoplantaris and its relation to chronic recurrent multifocal osteomyelitis. Dermatologica 1979;159:37–45.CrossRef

20.

Bognar M, Blake W, Agudelo C. Chronic recurrent multifocal osteomyelitis associated with Crohn’s Disease. Am J Med Sci 1998;315:133–5.PubMedCrossRef

21.

Vitecoq O, Said LA, Michot C, et al. Evolution of chronic recurrent multifocal osteitis toward spondyloarthropathy over the long term. Arthritis Rheum 2006;55:665–9.CrossRef

22.

Rohekar G, Inman RD. Conundrums in nosology: synovitis, acne, pustulosis, hyperostosis and osteitis syndrome and spondylarthritis. Arthritis Rheum 2006;55:665–9.PubMedCrossRef

23.

Trost S, Rosé CD. Myocarditis and sacroileitis: two previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome. J Rheumatol 2005;32:175–7.PubMed

24.

Meiorin SM, Espada G, Costa CE, et al. Granulomatous nephritis associated with R334Q mutation in NOD2. J Rheumatol 2007;34:1945–7.PubMed

25.

Ferrero-Miliani L, Nielsen OH, Andersen PS, Girardin SE. Chronic inflammation: importance of NOD2 and NALP3 in interleukin-1beta generation. Clin Exp Immunol 2007;147(2):227–35.PubMed

Titel: Autoinflammatory Diseases: Mimics of Autoimmunity or Part of its Spectrum? Case Presentation
Publikationsdatum: 01.05.2008
Erschienen in: Journal of Clinical Immunology / Ausgabe Sonderheft 1/2008
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-008-9179-2

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Innere Medizin

25.04.2024 | Hypotonie | Nachrichten

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Autoinflammatory Diseases: Mimics of Autoimmunity or Part of its Spectrum? Case Presentation

Abstract

Introduction:

Discussion:

Conclusion:

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Update Innere Medizin

Springer Medizin

Abstract

Introduction:

Discussion:

Conclusion:

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Sonderheft 1/2008

Autoimmunity in Primary Immunodeficiencies

Autoimmune Manifestations in Common Variable Immunodeficiency

Autoimmunity in Severe Combined Immunodeficiency (SCID): Lessons from Patients and Experimental Models

Diagnosis and Management of Autoinflammatory Diseases in Childhood

Autoimmunity in IgA Deficiency: Revisiting the Role of IgA as a Silent Housekeeper

Primary Immunodeficiencies Unravel Critical Aspects of the Pathophysiology of Autoimmunity and of the Genetics of Autoimmune Disease

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Update Innere Medizin