Systemic autoinflammatory disease

Zhou Q et al. (2016) Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.

McDermott MF et al. (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

Aganna E et al. (2001) Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.

Wildemann B et al. (2007) The tumor-necrosis-factor-associated periodic syndrome, the brain, and tumor-necrosis-factor-alpha antagonists.

Williamson LM et al. (1982) Familial Hibernian fever.

Mulley J et al. (1998) Gene localization for an autosomal dominant familial periodic fever to 12p13.

McDermott MF et al. (1998) Linkage of familial Hibernian fever to chromosome 12p13.

Karenko L et al. (1992) Autosomal dominant 'Mediterranean fever' in a Finnish family.

Drenth JP et al. (1994) Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.

Prietsch V et al. (2003) Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

Mandey SH et al. (2006) Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Hoffmann GF et al. (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

Wang J et al. (1999) Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.

Zhu S et al. (2006) Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.

Miceli-Richard C et al. (2001) CARD15 mutations in Blau syndrome.

Kanazawa N et al. (2004) Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation.

Kanazawa N et al. (2005) Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.

Goyal M et al. (2007) Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations.

Dhondt V et al. () Leg ulcers: a new symptom of Blau syndrome?

Yeon HB et al. (2000) Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q.

Wise CA et al. (2002) Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.

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.

Aksentijevich I et al. (2002) 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.

Zhou Q et. al. (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2.

Navon Elkan P et. al. (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Van Montfrans JM et. al. (2016) Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

None (2018) Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.

Aksentijevich I et al. (1999) Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

Mansfield E et al. (2001) The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.

El-Shanti H et al. (2006) Familial mediterranean fever in Arabs.

Bonyadi M et al. (2009) MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.

Yuval Y et al. (1995) Dominant inheritance in two families with familial Mediterranean fever (FMF).

None (1997) A candidate gene for familial Mediterranean fever.

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.

Babior BM et al. (1997) The familial Mediterranean fever gene--cloned at last.

Touitou I et al. (2004) Infevers: an evolving mutation database for auto-inflammatory syndromes.

van Montfrans J et. al. (2014) Mutant ADA2 in vasculopathies.

Van Eyck L et. al. (2014) Mutant ADA2 in vasculopathies.

Van Eyck L et. al. (2014) Mutant ADA2 in vasculopathies.

Pastores GM et al. (1990) Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts.

Jabs DA et al. (1985) Familial granulomatous synovitis, uveitis, and cranial neuropathies.

None (1985) Familial granulomatous arthritis, iritis, and rash.

Rotenstein D et al. (1982) Familial granulomatous arteritis with polyarthritis of juvenile onset.

Ukae S et al. (1994) Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases.

Raphael SA et al. (1993) Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis.

Saini SK et al. (1996) Liver involvement in familial granulomatous arthritis (Blau syndrome).

Tromp G et al. (1996) Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.

Sakurai Y et al. (1997) Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the differential diagnosis.

Manouvrier-Hanu S et al. (1998) Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.

Shetty AK et al. (1998) Sarcoidosis: a pediatric perspective.

Latkany PA et al. (2002) Multifocal choroiditis in patients with familial juvenile systemic granulomatosis.

Alonso D et al. (2003) Blau syndrome: a new kindred.

Borzutzky A et al. (2010) NOD2-associated diseases: Bridging innate immunity and autoinflammation.

Shinar Y et al. (2020) ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

Toplak N et al. (2012) An international registry on autoinflammatory diseases: the Eurofever experience.

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.

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.

Torbiak RP et al. (1989) NOMID--a neonatal syndrome of multisystem inflammation.

Hassink SG et al. (1983) Neonatal onset multisystem inflammatory disease.

Prieur AM et al. (1981) Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation.

Cattan D et al. (2000) Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever.

Tamir N et al. (1999) Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics.

Brik R et al. (2001) Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain.

Milledge J et al. (2002) Allogeneic bone marrow transplantation: cure for familial Mediterranean fever.

None (2003) Should patients with FMF undergo BMT?

Touitou I et al. (2003) Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever.

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.

HELLER H et al. (1961) Amyloidosis in familial Mediterranean fever. An independent genetically determined character.

DORMER AE et al. (1962) Familial Mediterranean fever: a cause of periodic fever.

None (1964) FAMILIAL PAROXYSMAL POLYSEROSITIS. ANALYSIS OF FIFTY CASES.

Shohat M et al. (1992) Twin studies in familial Mediterranean fever.

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.

Pras E et al. (1992) Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.

Sack GH et al. (1991) Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster.

Touitou I et al. (2007) Transmission of familial Mediterranean fever mutations following bone marrow transplantation.

Papadopoulos VP et al. (2008) The population genetics of familial mediterranean fever: a meta-analysis study.

Shohat M et al. (1990) Serum amyloid A and P protein genes in familial Mediterranean fever.

Shohat T et al. (1990) Familial Mediterranean fever--linkage studies with genetic markers on chromosome 6.

Shohat T et al. (1990) Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians.

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.

Ayesh SK et al. (1990) Partial characterization of a C5a-inhibitor in peritoneal fluid.

Shohat M et al. (1989) Hypothesis: familial Mediterranean fever--a genetic disorder of the lipocortin family?

Majeed HA et al. (1989) Familial Mediterranean fever (recurrent hereditary polyserositis) in children: analysis of 88 cases.

Rogers DB et al. (1989) Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency.

None (1988) Serum amyloid A (SAA) gene variations in familial Mediterranean fever.

Schwabe AD et al. (1988) Meningitis in familial Mediterranean fever.

Benson MD et al. (1977) Amyloid deposition in a renal transplant in familial Mediterranean fever.

Barakat MH et al. (1986) Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs--a study of 175 patients and review of the literature.

Jones MB et al. (1977) Amyloidosis in a renal allograft in familial Mediterranean fever.

Eshel G et al. (1988) Acute orchitis in familial Mediterranean fever.

Barakat MH et al. (1988) Mollaret's meningitis. A variant of recurrent hereditary polyserositis, both provoked by metaraminol.

Zemer D et al. (1986) Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever.

Schwabe AD et al. (1987) Recurrent polyserositis (familial Mediterranean fever) in a Japanese.

Rubinger D et al. (1979) Amelioration of familial Mediterranean fever during hemodialysis.

Knecht A et al. (1985) Serum amyloid A protein in familial Mediterranean fever.

Schwabe AD et al. (1974) Familial Mediterranean Fever in Armenians. Analysis of 100 cases.

Zemer D et al. (1974) A controlled trial of colchicine in preventing attacks of familial mediterranean fever.

Dinarello CA et al. (1974) Colchicine therapy for familial mediterranean fever. A double-blind trial.

None (1972) Colchicine for familial Mediterranean fever.

Sohar E et al. (1967) Familial Mediterranean fever. A survey of 470 cases and review of the literature.

Hurwich BJ et al. (1970) Record survival of siblings with familial Mediterranean fever, phenotypes 1 and 2.

Reich CB et al. (1970) Familial Mediterranean fever in an Italian family.

Ozdemir AI et al. (1969) Familial Mediterranean fever among the Turkish people.

Barakat MH et al. (1984) Metaraminol provocative test: a specific diagnostic test for familial Mediterranean fever.

Cattan D et al. (1984) Metaraminol provocation test for familial Mediterranean fever.

Barakat MH et al. (1984) Diagnosing familial Mediterranean fever.

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.

Matzner Y et al. (1984) Diminished activity of a chemotactic inhibitor in synovial fluids from patients with familial Mediterranean fever.

Agmon D et al. () Isolated adrenal mineralocorticoid deficiency due to amyloidosis associated with familial Mediterranean fever.

Schlesinger M et al. (1984) Familial Mediterranean fever: no linkage with HLA.

Matzner Y et al. (1984) C5a-inhibitor deficiency in peritoneal fluids from patients with familial Mediterranean fever.

Schwabe AD et al. (1984) C5a-inhibitor deficiency--a role in familial Mediterranean fever?

None (1983) Enrollment bias and variation in clinical manifestations: a review of consecutive cases of familial paroxysmal polyserositis.

Pras M et al. (1982) Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups.

Flatau E et al. (1982) Schönlein-Henoch syndrome in patients with familial Mediterranean fever.

Ludomirsky A et al. (1981) Amyloidosis in children with familial Mediterranean fever.

Daniels M et al. (1995) Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel.

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.

Ozyilkan E et al. (1994) Absence of asthma in patients with familial Mediterranean fever.

Aksentijevich I et al. (1993) Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies.

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?

Fischel-Ghodsian N et al. (1993) Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13.

Zemer D et al. (1993) Familial Mediterranean fever in the colchicine era: the fate of one family.

Levy EN et al. (1996) Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.

Ben-Chetrit E et al. (1996) Colchicine in breast milk of patients with familial Mediterranean fever.

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.

None (1977) Familial Mediterranean fever. Recent advances in pathogenesis and management.

Rawashdeh MO et al. (1996) Familial Mediterranean fever in Arab children: the high prevalence and gene frequency.

Dupont M et al. (1997) Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees.

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.

Ravid M et al. (1977) Prolonged colchicine treatment in four patients with amyloidosis.

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.

Saatçi U et al. (1997) Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis.

Pras E et al. (1998) Clinical differences between North African and Iraqi Jews with familial Mediterranean fever.

Yazigi A et al. (1998) Colchicine for recurrent pericarditis in children.

Toro JR et al. (2000) Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations.

Drenth JP et al. (2001) Hereditary periodic fever.

Weyhreter H et al. (2003) A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.

BOURONCLE BA et al. (1957) Periodic fever: occurrence in five generations.

Driesen O et al. (1968) A description of two brothers with permanently raised non-esterified aetiocholanolone blood level.

Gibson KM et al. (1988) Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.

Hoffmann G et al. (1986) Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.

Berger R et al. (1985) Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

Mancini J et al. () Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

Hinson DD et al. (1998) Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.

Masters SL et al. (2016) Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.

Jacobs JC et al. (1975) "Streaking leukocyte factor," arthritis, and pyoderma gangrenosum.

Lindor NM et al. (1997) A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome.

Wise CA et al. (2000) Localization of a gene for familial recurrent arthritis.

Armenian HK et al. (1973) Familial paroxysmal polyserositis. Clinical and laboratory findings in 120 cases.

None (1980) Familial Mediterranean fever: report of a large family, review of the literature, and discussion of the frequency of amyloidosis.

Kees S et al. (1997) Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF).

Tutar HE et al. (1999) Recurrent pericarditis in familial Mediterranean fever.

REIMANN HA et al. (1954) Periodic peritonitis; heredity and pathology: report of seventy-two cases.

Grossman C et al. (2019) Familial Mediterranean fever (FMF) phenotype in patients homozygous to the MEFV M694V mutation.

None () A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy.