Systemic autoinflammatory disease is a group of disorders whose common cause is dysregulation or overactivation of the innate immune system. the symptoms include spontaneous fever, serositis, skin leasions, arthralgia/arthritis, acute abdominal pain, and occasionally leasions of the central nervous system.
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Yeon HB et al. (2000) Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. |
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Wise CA et al. (2002) Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. |
22. |
Feldmann J et al. (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. |
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None (2018) Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2. |
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Mansfield E et al. (2001) The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. |
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None (1997) A candidate gene for familial Mediterranean fever. |
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None (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. |
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Babior BM et al. (1997) The familial Mediterranean fever gene--cloned at last. |
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Pastores GM et al. (1990) Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. |
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Jabs DA et al. (1985) Familial granulomatous synovitis, uveitis, and cranial neuropathies. |
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None (1985) Familial granulomatous arthritis, iritis, and rash. |
43. |
Rotenstein D et al. (1982) Familial granulomatous arteritis with polyarthritis of juvenile onset. |
44. |
Ukae S et al. (1994) Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases. |
45. |
Raphael SA et al. (1993) Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. |
46. |
Saini SK et al. (1996) Liver involvement in familial granulomatous arthritis (Blau syndrome). |
47. |
Tromp G et al. (1996) Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. |
48. |
Sakurai Y et al. (1997) Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the differential diagnosis. |
49. |
Manouvrier-Hanu S et al. (1998) Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. |
50. |
Shetty AK et al. (1998) Sarcoidosis: a pediatric perspective. |
51. |
Latkany PA et al. (2002) Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. |
52. |
Alonso D et al. (2003) Blau syndrome: a new kindred. |
53. |
Borzutzky A et al. (2010) NOD2-associated diseases: Bridging innate immunity and autoinflammation. |
54. |
Shinar Y et al. (2020) ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era. |
55. |
Toplak N et al. (2012) An international registry on autoinflammatory diseases: the Eurofever experience. |
56. |
Leone V et al. (2003) Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease. |
57. |
Boschan C et al. (2006) Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment. |
58. |
Torbiak RP et al. (1989) NOMID--a neonatal syndrome of multisystem inflammation. |
59. |
Hassink SG et al. (1983) Neonatal onset multisystem inflammatory disease. |
60. |
Prieur AM et al. (1981) Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. |
61. |
Cattan D et al. (2000) Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever. |
62. |
Tamir N et al. (1999) Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics. |
63. |
Brik R et al. (2001) Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain. |
64. |
Milledge J et al. (2002) Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. |
65. |
None (2003) Should patients with FMF undergo BMT? |
66. |
Touitou I et al. (2003) Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever. |
67. |
Cazeneuve C et al. (2003) Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. |
68. |
HELLER H et al. (1961) Amyloidosis in familial Mediterranean fever. An independent genetically determined character. |
69. |
DORMER AE et al. (1962) Familial Mediterranean fever: a cause of periodic fever. |
70. |
None (1964) FAMILIAL PAROXYSMAL POLYSEROSITIS. ANALYSIS OF FIFTY CASES. |
71. |
Shohat M et al. (1992) Twin studies in familial Mediterranean fever. |
72. |
Shohat M et al. (1992) The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity. |
73. |
Pras E et al. (1992) Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. |
74. |
Sack GH et al. (1991) Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster. |
75. |
Touitou I et al. (2007) Transmission of familial Mediterranean fever mutations following bone marrow transplantation. |
76. |
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77. |
Shohat M et al. (1990) Serum amyloid A and P protein genes in familial Mediterranean fever. |
78. |
Shohat T et al. (1990) Familial Mediterranean fever--linkage studies with genetic markers on chromosome 6. |
79. |
Shohat T et al. (1990) Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians. |
80. |
Lazarin GA et al. (2013) An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. |
81. |
Ayesh SK et al. (1990) Partial characterization of a C5a-inhibitor in peritoneal fluid. |
82. |
Shohat M et al. (1989) Hypothesis: familial Mediterranean fever--a genetic disorder of the lipocortin family? |
83. |
Majeed HA et al. (1989) Familial Mediterranean fever (recurrent hereditary polyserositis) in children: analysis of 88 cases. |
84. |
Rogers DB et al. (1989) Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. |
85. |
None (1988) Serum amyloid A (SAA) gene variations in familial Mediterranean fever. |
86. |
Schwabe AD et al. (1988) Meningitis in familial Mediterranean fever. |
87. |
Benson MD et al. (1977) Amyloid deposition in a renal transplant in familial Mediterranean fever. |
88. |
Barakat MH et al. (1986) Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs--a study of 175 patients and review of the literature. |
89. |
Jones MB et al. (1977) Amyloidosis in a renal allograft in familial Mediterranean fever. |
90. |
Eshel G et al. (1988) Acute orchitis in familial Mediterranean fever. |
91. |
Barakat MH et al. (1988) Mollaret's meningitis. A variant of recurrent hereditary polyserositis, both provoked by metaraminol. |
92. |
Zemer D et al. (1986) Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. |
93. |
Schwabe AD et al. (1987) Recurrent polyserositis (familial Mediterranean fever) in a Japanese. |
94. |
Rubinger D et al. (1979) Amelioration of familial Mediterranean fever during hemodialysis. |
95. |
Knecht A et al. (1985) Serum amyloid A protein in familial Mediterranean fever. |
96. |
Schwabe AD et al. (1974) Familial Mediterranean Fever in Armenians. Analysis of 100 cases. |
97. |
Zemer D et al. (1974) A controlled trial of colchicine in preventing attacks of familial mediterranean fever. |
98. |
Dinarello CA et al. (1974) Colchicine therapy for familial mediterranean fever. A double-blind trial. |
99. |
None (1972) Colchicine for familial Mediterranean fever. |
100. |
Sohar E et al. (1967) Familial Mediterranean fever. A survey of 470 cases and review of the literature. |
101. |
Hurwich BJ et al. (1970) Record survival of siblings with familial Mediterranean fever, phenotypes 1 and 2. |
102. |
Reich CB et al. (1970) Familial Mediterranean fever in an Italian family. |
103. |
Ozdemir AI et al. (1969) Familial Mediterranean fever among the Turkish people. |
104. |
Barakat MH et al. (1984) Metaraminol provocative test: a specific diagnostic test for familial Mediterranean fever. |
105. |
Cattan D et al. (1984) Metaraminol provocation test for familial Mediterranean fever. |
106. |
Barakat MH et al. (1984) Diagnosing familial Mediterranean fever. |
107. |
Ilfeld D et al. (1982) Correction of a suppressor cell deficiency in four patients with familial Mediterranean fever by in vitro or in vivo colchicine. |
108. |
Matzner Y et al. (1984) Diminished activity of a chemotactic inhibitor in synovial fluids from patients with familial Mediterranean fever. |
109. |
Agmon D et al. () Isolated adrenal mineralocorticoid deficiency due to amyloidosis associated with familial Mediterranean fever. |
110. |
Schlesinger M et al. (1984) Familial Mediterranean fever: no linkage with HLA. |
111. |
Matzner Y et al. (1984) C5a-inhibitor deficiency in peritoneal fluids from patients with familial Mediterranean fever. |
112. |
Schwabe AD et al. (1984) C5a-inhibitor deficiency--a role in familial Mediterranean fever? |
113. |
None (1983) Enrollment bias and variation in clinical manifestations: a review of consecutive cases of familial paroxysmal polyserositis. |
114. |
Pras M et al. (1982) Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. |
115. |
Flatau E et al. (1982) Schönlein-Henoch syndrome in patients with familial Mediterranean fever. |
116. |
Ludomirsky A et al. (1981) Amyloidosis in children with familial Mediterranean fever. |
117. |
Daniels M et al. (1995) Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. |
118. |
Pras E et al. (1994) The gene causing familial Mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families. |
119. |
Ozyilkan E et al. (1994) Absence of asthma in patients with familial Mediterranean fever. |
120. |
Aksentijevich I et al. (1993) Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies. |
121. |
Aksentijevich I et al. (1993) Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error? |
122. |
Fischel-Ghodsian N et al. (1993) Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13. |
123. |
Zemer D et al. (1993) Familial Mediterranean fever in the colchicine era: the fate of one family. |
124. |
Levy EN et al. (1996) Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246. |
125. |
Ben-Chetrit E et al. (1996) Colchicine in breast milk of patients with familial Mediterranean fever. |
126. |
None (1996) Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. The French FMF Consortium. |
127. |
None (1977) Familial Mediterranean fever. Recent advances in pathogenesis and management. |
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130. |
Sood R et al. (1997) Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3. |
131. |
Ravid M et al. (1977) Prolonged colchicine treatment in four patients with amyloidosis. |
132. |
Akarsu AN et al. (1997) Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. |
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134. |
Pras E et al. (1998) Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. |
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136. |
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139. |
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141. |
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142. |
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None (1980) Familial Mediterranean fever: report of a large family, review of the literature, and discussion of the frequency of amyloidosis. |
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153. |
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155. |
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156. |
None () A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. |