The systemic autoinflammatory diseases: inborn errors of the innate immune system.

[1]  F. Martinon,et al.  Gout-associated uric acid crystals activate the NALP3 inflammasome , 2006, Nature.

[2]  S. Akira,et al.  Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3 , 2006, Nature.

[3]  V. Dixit,et al.  Cryopyrin activates the inflammasome in response to toxins and ATP , 2006, Nature.

[4]  E. Alnemri,et al.  Cryopyrin and pyrin activate caspase-1, but not NF-κB, via ASC oligomerization , 2006, Cell Death and Differentiation.

[5]  D. Kastner,et al.  Familial autoinflammatory diseases: genetics, pathogenesis and treatment , 2005, Current opinion in rheumatology.

[6]  G. Hitman,et al.  Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor–associated periodic syndrome interacts with wild‐type tumor necrosis factor receptor I and induces ligand‐independent NF‐κB activation , 2005 .

[7]  F. Martinon,et al.  NLRs join TLRs as innate sensors of pathogens. , 2005, Trends in immunology.

[8]  J. Camonis,et al.  Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus. , 2005, Arthritis and rheumatism.

[9]  M. Karin,et al.  NOD2 and Crohn's disease: loss or gain of function? , 2005, Immunity.

[10]  C. Fielding,et al.  Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant. , 2005, Arthritis and rheumatism.

[11]  J. Sodroski,et al.  Retrovirus Restriction by TRIM5α Variants from Old World and New World Primates , 2005, Journal of Virology.

[12]  Richard A. Flavell,et al.  Nod2-Dependent Regulation of Innate and Adaptive Immunity in the Intestinal Tract , 2005, Science.

[13]  Michael Karin,et al.  Nod2 Mutation in Crohn's Disease Potentiates NF-κB Activity and IL-1ß Processing , 2005, Science.

[14]  L. Cantley,et al.  The Crohn's Disease Protein, NOD2, Requires RIP2 in Order to Induce Ubiquitinylation of a Novel Site on NEMO , 2004, Current Biology.

[15]  G. Firestein,et al.  Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist , 2004, The Lancet.

[16]  F. Martinon,et al.  Identification of Bacterial Muramyl Dipeptide as Activator of the NALP3/Cryopyrin Inflammasome , 2004, Current Biology.

[17]  D. Kastner,et al.  Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. , 2004, Arthritis and rheumatism.

[18]  N. Wulffraat,et al.  Anakinra in mutation-negative NOMID/CINCA syndrome: comment on the articles by Hawkins et al and Hoffman and Patel. , 2004, Arthritis and rheumatism.

[19]  A. Utani,et al.  Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. , 2004, Blood.

[20]  P. Tighe,et al.  Mutant forms of tumour necrosis factor receptor I that occur in TNF‐receptor‐associated periodic syndrome retain signalling functions but show abnormal behaviour , 2004, Immunology.

[21]  J. Hugot,et al.  Infevers: An evolving mutation database for auto‐inflammatory syndromes , 2004, Human mutation.

[22]  G. Merlini,et al.  First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. , 2004, Arthritis and rheumatism.

[23]  Judy H. Cho,et al.  Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations. , 2004, Human molecular genetics.

[24]  J. Sodroski,et al.  TRIM5alpha mediates the postentry block to N-tropic murine leukemia viruses in human cells. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[25]  P. Tighe,et al.  Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types. , 2004, Arthritis and rheumatism.

[26]  Tomohiro Watanabe,et al.  NOD2 is a negative regulator of Toll-like receptor 2–mediated T helper type 1 responses , 2004, Nature Immunology.

[27]  P. Hawkins,et al.  Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease. , 2004, Arthritis and rheumatism.

[28]  V. Dixit,et al.  Differential activation of the inflammasome by caspase-1 adaptors ASC and Ipaf , 2004, Nature.

[29]  F. Martinon,et al.  Inflammatory Caspases Linking an Intracellular Innate Immune System to Autoinflammatory Diseases , 2004, Cell.

[30]  G. Núñez,et al.  Cryopyrin-induced interleukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC. , 2004, The Journal of biological chemistry.

[31]  M. Chamaillard,et al.  Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition , 2004, The EMBO journal.

[32]  A. Fischer,et al.  Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. , 2004, Blood.

[33]  F. Martinon,et al.  NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. , 2004, Immunity.

[34]  P. Hawkins,et al.  Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. , 2004, Arthritis and rheumatism.

[35]  K. Siminovitch,et al.  Fyn and PTP-PEST–mediated Regulation of Wiskott-Aldrich Syndrome Protein (WASp) Tyrosine Phosphorylation Is Required for Coupling T Cell Antigen Receptor Engagement to WASp Effector Function and T Cell Activation , 2004, The Journal of experimental medicine.

[36]  J. Ting,et al.  Cutting Edge: CIAS1/Cryopyrin/PYPAF1/NALP3/ CATERPILLER 1.1 Is an Inducible Inflammatory Mediator with NF-κB Suppressive Properties , 2003, The Journal of Immunology.

[37]  John Calvin Reed,et al.  Apoptosis-Associated Speck-Like Protein Containing a Caspase Recruitment Domain Is a Regulator of Procaspase-1 Activation 1 , 2003, The Journal of Immunology.

[38]  Thomas Lengauer,et al.  Structural localization of disease‐associated sequence variations in the NACHT and LRR domains of PYPAF1 and NOD2 , 2003, FEBS letters.

[39]  D. Kastner,et al.  Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[40]  E. Dahl,et al.  The death-domain fold of the ASC PYRIN domain, presenting a basis for PYRIN/PYRIN recognition. , 2003, Journal of molecular biology.

[41]  D. Eliezer Folding pyrin into the family. , 2003, Structure.

[42]  M. Tayeh,et al.  Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population. , 2003, Saudi medical journal.

[43]  G. Wider,et al.  NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain. , 2003, Structure.

[44]  A. Godzik,et al.  Homology modeling provides insights into the binding mode of the PAAD/DAPIN/pyrin domain, a fourth member of the CARD/DD/DED domain family , 2003, Protein science : a publication of the Protein Society.

[45]  D. Gladman,et al.  CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis. , 2003, American journal of human genetics.

[46]  M. Chamaillard,et al.  Nods, Nalps and Naip: intracellular regulators of bacterial‐induced inflammation , 2003, Cellular microbiology.

[47]  G. Hitman,et al.  Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. , 2003, Arthritis and rheumatism.

[48]  H. Lorenz,et al.  Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis. , 2003, Arthritis and rheumatism.

[49]  F. Saulsbury Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration. , 2003, The Journal of pediatrics.

[50]  A. Bakkaloğlu,et al.  Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. , 2003, Clinical and experimental rheumatology.

[51]  K. Siminovitch,et al.  The Wiskott–Aldrich syndrome protein: forging the link between actin and cell activation , 2003, Immunological reviews.

[52]  Y. Ogura,et al.  ASC is an activating adaptor for NF-κB and caspase-8-dependent apoptosis , 2003 .

[53]  Y. Ogura,et al.  Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. , 2003, Biochemical and biophysical research communications.

[54]  M. Chamaillard,et al.  Nod2 Is a General Sensor of Peptidoglycan through Muramyl Dipeptide (MDP) Detection* , 2003, The Journal of Biological Chemistry.

[55]  J. Hugot,et al.  Gene–environment interaction modulated by allelic heterogeneity in inflammatory diseases , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[56]  D. Kastner,et al.  Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. , 2003, Molecular cell.

[57]  S. Foster,et al.  Host Recognition of Bacterial Muramyl Dipeptide Mediated through NOD2 , 2003, The Journal of Biological Chemistry.

[58]  E. Mariman,et al.  A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome. , 2003, The American journal of medicine.

[59]  F. Martinon,et al.  NALPs: a novel protein family involved in inflammation , 2003, Nature Reviews Molecular Cell Biology.

[60]  D. Kastner,et al.  The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations , 2003, Current opinion in rheumatology.

[61]  John Calvin Reed,et al.  The PAAD/PYRIN-Family Protein ASC Is a Dual Regulator of a Conserved Step in Nuclear Factor κB Activation Pathways , 2002, The Journal of experimental medicine.

[62]  H. Waterham,et al.  Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. , 2002, Human molecular genetics.

[63]  E. Remmers,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. , 2002, Arthritis and rheumatism.

[64]  J. Ting,et al.  Cutting Edge: CATERPILLER: A Large Family of Mammalian Genes Containing CARD, Pyrin, Nucleotide-Binding, and Leucine-Rich Repeat Domains1 , 2002, The Journal of Immunology.

[65]  H. Waterham,et al.  Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. , 2002, Arthritis and rheumatism.

[66]  G. Hitman,et al.  Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. , 2002, Arthritis and rheumatism.

[67]  D. Kastner,et al.  The TNF Receptor-Associated Periodic Syndrome (TRAPS): Emerging Concepts of an Autoinflammatory Disorder , 2002, Medicine.

[68]  Xiaoju Wang,et al.  High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus , 2002, BMC Genomics.

[69]  J. Bertin,et al.  PYPAF7, a Novel PYRIN-containing Apaf1-like Protein That Regulates Activation of NF-κB and Caspase-1-dependent Cytokine Processing* , 2002, The Journal of Biological Chemistry.

[70]  F. Martinon,et al.  The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. , 2002, Molecular cell.

[71]  A. Fischer,et al.  Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. , 2002, American journal of human genetics.

[72]  S. Srinivasula,et al.  The PYRIN-CARD Protein ASC Is an Activating Adaptor for Caspase-1* , 2002, The Journal of Biological Chemistry.

[73]  D. MacEwan TNF receptor subtype signalling: differences and cellular consequences. , 2002, Cellular signalling.

[74]  D. Scott,et al.  New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. , 2002, American journal of human genetics.

[75]  D. Goeddel,et al.  TNF-R1 Signaling: A Beautiful Pathway , 2002, Science.

[76]  M. Lovett,et al.  Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. , 2002, Human molecular genetics.

[77]  P. Peterson,et al.  A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever. , 2002, Arthritis and rheumatism.

[78]  J. Bertin,et al.  PYPAF1, a PYRIN-containing Apaf1-like Protein That Assembles with ASC and Regulates Activation of NF-κB* , 2002, The Journal of Biological Chemistry.

[79]  Xuejun Jiang,et al.  Three-dimensional structure of the apoptosome: implications for assembly, procaspase-9 binding, and activation. , 2002, Molecular cell.

[80]  M. Tremblay,et al.  PSTPIP Is a Substrate of PTP-PEST and Serves as a Scaffold Guiding PTP-PEST Toward a Specific Dephosphorylation of WASP* , 2002, The Journal of Biological Chemistry.

[81]  H. Yazici,et al.  Acute phase response in familial Mediterranean fever , 2002, Annals of the rheumatic diseases.

[82]  R. Kolodner,et al.  Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome , 2001, Nature Genetics.

[83]  J. Stuckey,et al.  Interaction between Pyrin and the Apoptotic Speck Protein (ASC) Modulates ASC-induced Apoptosis* , 2001, The Journal of Biological Chemistry.

[84]  D. Broide,et al.  Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. , 2001, The Journal of allergy and clinical immunology.

[85]  V. Dixit,et al.  The PYRIN domain: A member of the death domain‐fold superfamily , 2001, Protein science : a publication of the Protein Society.

[86]  G. Thomas,et al.  CARD15 mutations in Blau syndrome , 2001, Nature Genetics.

[87]  M. Pras,et al.  Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. , 2001, American journal of medical genetics.

[88]  R. Gershoni-baruch,et al.  Familial Mediterranean fever: prevalence, penetrance and genetic drift , 2001, European Journal of Human Genetics.

[89]  D. Kastner,et al.  The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. , 2001, Blood.

[90]  D. Kastner,et al.  The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. , 2001, American journal of human genetics.

[91]  Isabelle Touitou,et al.  The spectrum of Familial Mediterranean Fever (FMF) mutations , 2001, European Journal of Human Genetics.

[92]  Mourad Sahbatou,et al.  Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease , 2001, Nature.

[93]  H. Waterham,et al.  Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. , 2001, Rheumatology.

[94]  J. Meer,et al.  Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome , 2001, European Journal of Human Genetics.

[95]  H. Waterham,et al.  Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome , 2001, European Journal of Human Genetics.

[96]  P. Tucker,et al.  Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states , 2001, Nature Genetics.

[97]  F. Martinon,et al.  The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation , 2001, Current Biology.

[98]  S. Yamaoka,et al.  Nod2, a Nod1/Apaf-1 Family Member That Is Restricted to Monocytes and Activates NF-κB* , 2001, The Journal of Biological Chemistry.

[99]  J C Reed,et al.  PAAD - a new protein domain associated with apoptosis, cancer and autoimmune diseases. , 2001, Trends in biochemical sciences.

[100]  E. Dahl,et al.  The DAPIN family: a novel domain links apoptotic and interferon response proteins. , 2001, Trends in biochemical sciences.

[101]  J. Bertin,et al.  The PYRIN domain: a novel motif found in apoptosis and inflammation proteins , 2000, Cell Death and Differentiation.

[102]  D. Kastner,et al.  TNFRSF1A mutations and autoinflammatory syndromes. , 2000, Current opinion in immunology.

[103]  P. Stepensky,et al.  Expression of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblast cultures , 2000 .

[104]  R M Siegel,et al.  A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling. , 2000, Science.

[105]  S. Holland,et al.  The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. , 2000, Blood.

[106]  E. Koonin,et al.  The NACHT family - a new group of predicted NTPases implicated in apoptosis and MHC transcription activation. , 2000, Trends in biochemical sciences.

[107]  M. Sinensky,et al.  Recent advances in the study of prenylated proteins. , 2000, Biochimica et biophysica acta.

[108]  T. Shohat,et al.  Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups , 2000, European Journal of Human Genetics.

[109]  D. Booth,et al.  The genetic basis of autosomal dominant familial Mediterranean fever. , 2000, QJM : monthly journal of the Association of Physicians.

[110]  J. Drenth,et al.  Genes associated with periodic fevers highlighted at Dutch workshop , 1999, The Lancet.

[111]  N. Niikawa,et al.  ASC, a Novel 22-kDa Protein, Aggregates during Apoptosis of Human Promyelocytic Leukemia HL-60 Cells* , 1999, The Journal of Biological Chemistry.

[112]  H. Waterham,et al.  Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. , 1999, Human molecular genetics.

[113]  H. Waterham,et al.  Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome , 1999, Nature Genetics.

[114]  D. Valle You give me fever , 1999, Nature Genetics.

[115]  Joost P.H. Drenth,et al.  Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome , 1999, Nature Genetics.

[116]  M. Whitlow,et al.  Protein fold analysis of the B30.2‐like domain , 1999, Proteins.

[117]  M. Pepys,et al.  Acute phase response and evolution of familial Mediter ranean fever , 1999, The Lancet.

[118]  Ian Todd,et al.  Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes , 1999, Cell.

[119]  H. Ostrer,et al.  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. , 1999, American journal of human genetics.

[120]  E. Reinherz,et al.  A cdc15‐like adaptor protein (CD2BP1) interacts with the CD2 cytoplasmic domain and regulates CD2‐triggered adhesion , 1998, The EMBO journal.

[121]  P. Pontarotti,et al.  B30.2-like domain proteins: update and new insights into a rapidly expanding family of proteins. , 1998, Molecular biology and evolution.

[122]  E. Ben-Chetrit,et al.  Does the lack of the P-glycoprotein efflux pump in neutrophils explain the efficacy of colchicine in familial Mediterranean fever and other inflammatory diseases? , 1998, Medical hypotheses.

[123]  D. Kastner,et al.  The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. , 1998, Human molecular genetics.

[124]  F. Martinon,et al.  Identification of CARDIAK, a RIP-like kinase that associates with caspase-1 , 1998, Current Biology.

[125]  V. Dixit,et al.  RIP2 Is a Novel NF-κB-activating and Cell Death-inducing Kinase* , 1998, The Journal of Biological Chemistry.

[126]  L. del Peso,et al.  RICK, a Novel Protein Kinase Containing a Caspase Recruitment Domain, Interacts with CLARP and Regulates CD95-mediated Apoptosis* , 1998, The Journal of Biological Chemistry.

[127]  C. Janeway,et al.  An ancient system of host defense. , 1998, Current opinion in immunology.

[128]  C. Ware,et al.  TNF receptor-deficient mice reveal divergent roles for p55 and p75 in several models of inflammation. , 1998, Journal of immunology.

[129]  R. Powell,et al.  Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family. , 1997, Mayo Clinic proceedings.

[130]  Jacques Demaille,et al.  A candidate gene for familial Mediterranean fever , 1997, Nature Genetics.

[131]  Jill Cheng,et al.  PSTPIP: A Tyrosine Phosphorylated Cleavage Furrow–associated Protein that Is a Substrate for a PEST Tyrosine Phosphatase , 1997, The Journal of cell biology.

[132]  F. Collins,et al.  Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever , 1997, Cell.

[133]  Xiaodong Wang,et al.  Apaf-1, a Human Protein Homologous to C. elegans CED-4, Participates in Cytochrome c–Dependent Activation of Caspase-3 , 1997, Cell.

[134]  P. Aspenström A Cdc42 target protein with homology to the non-kinase domain of FER has a potential role in regulating the actin cytoskeleton , 1997, Current Biology.

[135]  C. Seidman,et al.  A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. , 1997, Mayo Clinic proceedings.

[136]  J. Goldstein,et al.  The SREBP Pathway: Regulation of Cholesterol Metabolism by Proteolysis of a Membrane-Bound Transcription Factor , 1997, Cell.

[137]  Hashkes Pj,et al.  Recognition of infantile-onset multisystem inflammatory disease as a unique entity. , 1997 .

[138]  P. Marson,et al.  Atypical hypergammaglobulinaemia D syndrome with amyloidosis: An overlap with familial Mediterranean fever? , 1996, Clinical Rheumatology.

[139]  M. Daha,et al.  Immunoglobulin D enhances the release of tumour necrosis factor‐α, and interleukin‐1β as well as interleukin‐1 receptor antagonist from human mononuclear cells , 1996, Immunology.

[140]  R. Black,et al.  A metalloprotease inhibitor blocks shedding of the IL-6 receptor and the p60 TNF receptor. , 1995, Journal of immunology.

[141]  G. Weissmann,et al.  Colchicine alters the quantitative and qualitative display of selectins on endothelial cells and neutrophils. , 1995, The Journal of clinical investigation.

[142]  D. Wallach,et al.  Structural requirements for inducible shedding of the p55 tumor necrosis factor receptor. , 1994, The Journal of biological chemistry.

[143]  J. V. D. van der Meer,et al.  Hyperimmunoglobulinemia D and Periodic Fever Syndrome: The Clinical Spectrum in a Series of 50 Patients , 1994, Medicine.

[144]  Masahide Takahashi,et al.  Evolutionary study of multigenic families mapping close to the human MHC class I region , 1993, Journal of Molecular Evolution.

[145]  S. Hsu,et al.  Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. , 1993, American journal of diseases of children.

[146]  T. Mak,et al.  Mice deficient for the 55 kd tumor necrosis factor receptor are resistant to endotoxic shock, yet succumb to L. monocytogenes infection , 1993, Cell.

[147]  D. Banner,et al.  Crystal structure of the soluble human 55 kd TNF receptor-human TNFβ complex: Implications for TNF receptor activation , 1993, Cell.

[148]  K. Sartor,et al.  Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. , 1993, Pediatrics.

[149]  D. Zemer,et al.  Long-term colchicine treatment in children with familial Mediterranean fever. , 1991, Arthritis and rheumatism.

[150]  H. Holtmann,et al.  Antibodies to a soluble form of a tumor necrosis factor (TNF) receptor have TNF-like activity. , 1990, The Journal of biological chemistry.

[151]  G. Wong,et al.  Molecular cloning and expression of a receptor for human tumor necrosis factor , 1990, Cell.

[152]  J. Goldstein,et al.  Regulation of the mevalonate pathway , 1990, Nature.

[153]  J. Miller Early-onset "sarcoidosis" and "familial granulomatous arthritis (arteritis)": the same disease. , 1986, The Journal of pediatrics.

[154]  K. Gibson,et al.  Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. , 1986, The New England journal of medicine.

[155]  D. Zemer,et al.  Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. , 1986, The New England journal of medicine.

[156]  E. Blau Familial granulomatous arthritis, iritis, and rash. , 1985, The Journal of pediatrics.

[157]  F. Arnett,et al.  Familial granulomatous synovitis, uveitis, and cranial neuropathies. , 1985, The American journal of medicine.

[158]  R. Furth,et al.  HYPERIMMUNOGLOBULINAEMIA D AND PERIODIC FEVER: A NEW SYNDROME , 1984, The Lancet.

[159]  S. Hassink,et al.  Neonatal onset multisystem inflammatory disease. , 1983, Arthritis and rheumatism.

[160]  P. Toghill,et al.  Familial Hibernian fever. , 1982, The Quarterly journal of medicine.

[161]  J. Walker,et al.  Distantly related sequences in the alpha‐ and beta‐subunits of ATP synthase, myosin, kinases and other ATP‐requiring enzymes and a common nucleotide binding fold. , 1982, The EMBO journal.

[162]  C. Griscelli,et al.  Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. , 1981, The Journal of pediatrics.

[163]  A. Fauci,et al.  Effect of prophylactic colchicine therapy on leukocyte function in patients with familial Mediterranean fever. , 1976, Arthritis and rheumatism.

[164]  H. Zarkovsky Letter: Chronic low-level lead exposure and mental retardation. , 1975, Lancet.

[165]  D. Alling,et al.  Colchicine therapy for familial mediterranean fever. A double-blind trial. , 1974, The New England journal of medicine.

[166]  B. Modan,et al.  A controlled trial of colchicine in preventing attacks of familial mediterranean fever. , 1974, The New England journal of medicine.

[167]  Sieckel Vl ["Evaluation of body fat using thoracic radiography" (B. Bugyi: Off. Gesundh.-Wesen 35 (1973) 357)]. , 1973 .

[168]  J. Ting,et al.  CATERPILLER: a novel gene family important in immunity, cell death, and diseases. , 2005, Annual review of immunology.

[169]  R. Kelley,et al.  Inborn errors of cholesterol biosynthesis. , 2003 .

[170]  S. Akira,et al.  Toll-like receptors. , 2003, Annual review of immunology.

[171]  K. Siminovitch,et al.  The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse. , 2003, Immunity.

[172]  Richard Kelley,et al.  Hereditary periodic fever. , 2002, The New England journal of medicine.

[173]  A. Bakkaloğlu,et al.  Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population , 2001, European Journal of Human Genetics.

[174]  A. Prieur A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. , 2001, Clinical and experimental rheumatology.

[175]  H. Holtmann,et al.  Soluble and cell surface receptors for tumor necrosis factor. , 1991, Agents and actions. Supplements.

[176]  C. Griscelli,et al.  A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. , 1987, Scandinavian journal of rheumatology. Supplement.

[177]  H. Waterham,et al.  Regulation of Isoprenoid/Cholesterol Biosynthesis in Cells from Mevalonate Kinase-deficient Patients* , 2003, The Journal of Biological Chemistry.