Genomes and Genes
- Amyloidosis and auto-inflammatory syndromesGilles Grateau
Service de Medecine Interne, L Hôtel Dieu, Assistance Publique Hopitaux de Paris, Paris, France
Curr Drug Targets Inflamm Allergy 4:57-65. 2005..Three other types have been recently clinically as well as genetically characterised. A thorough diagnosis is warranted, as clinical and therapeutic management is specific for each of these diseases...
- [Auto-inflammatory syndromes]Gilles Grateau
Service de Medecine Interne, Hopital Tenon, 75970 Paris Cedex 20
Rev Prat 55:353-9. 2005..This new group of diseases has already opened new avenues in our understanding of the inflammatory response...
- [Amyloidosis: a model of misfolded protein disorder]Gilles Grateau
Service de Medecine Interne, Hopital Tenon, Paris, France
Med Sci (Paris) 21:627-33. 2005....
- The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approachIsabelle Jeru
UMR_S933, Institut National de la Sante et de la Recherche Medicale, Paris, France
PLoS ONE 8:e68431. 2013..However, heterozygosity might be coincidental in many patients due to the very high rate of mutations in Mediterranean populations...
- [Hereditary intermittant fever]Gilles Grateau
Service de Medecine Interne, Hotel Dieu, Assistance Publique Hopitaux de Paris
Presse Med 33:1195-206. 2004....
- The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndromeCatherine Dode
Hopital Cochin, Institut Cochin, and Institut fédéritif de recherche, de l INSERM, Universite Paris V, Paris, France
Arthritis Rheum 46:2181-8. 2002..To characterize the frequency, clinical signs, and genotypic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a series of 394 patients of various ethnic origins who have recurrent inflammatory syndromes...
- Involvement of the modifier gene of a human Mendelian disorder in a negative selection processIsabelle Jeru
INSERM, U933, Paris, France
PLoS ONE 4:e7676. 2009..Indeed, the SAA1 alpha homozygous genotype and the p.Met694Val homozygous genotype at the MEFV locus are two main risk factors for RA...
- Lysozyme amyloidosis: report of 4 cases and a review of the literatureBrigitte Granel
Service de Medecine Interne, Hopital Nord, Assistance Publique Hopitaux de Marseille, Marseille, France
Medicine (Baltimore) 85:66-73. 2006....
- Prevalence and correlates of metabolic acidosis among patients with homozygous sickle cell diseaseStéphane Maurel
Service d Explorations Fonctionnelles, Sickle Cell Centre, and, Internal Medicine Service, Assistance Publique Hopitaux de Paris, Hopital Tenon, Paris, France, Institut National de la Sante et de la Recherche Medicale, UMR_S 1155, Paris, France, Sorbonne Universités, UPMC Univ Paris 06, DHUI2B, Paris, France
Clin J Am Soc Nephrol 9:648-53. 2014..This study aimed to assess the prevalence of metabolic acidosis and to identify its risk factors and mechanisms...
- High lactate dehydrogenase levels at admission for painful vaso-occlusive crisis is associated with severe outcome in adult SCD patientsKatia Stankovic Stojanovic
Assistance Publique Hopitaux de Paris, Hopital Tenon, Service de Medecine Interne, Centre de Référence de la Drépanocytose Adulte, Paris, France
Clin Biochem 45:1578-82. 2012..The aim of this study is to assess biological prognostic factors at the onset of vaso-occlusive crisis (VOC) in adults with sickle cell disease (SCD)...
- Autoinflammatory conditions: when to suspect? How to treat?Gilles Grateau
Service de Medecine Interne, Centre de référence des amyloses d origine inflammatoire et de la fièvre méditerranéenne familiale, Hopital Tenon, Assistance Publique Hopitaux de Paris, Universite Paris 6 Pierre et Marie Curie, 4 rue de la Chine, 75970 Paris Cedex 20, France
Best Pract Res Clin Rheumatol 24:401-11. 2010....
- How should we approach classification of autoinflammatory diseases?Gilles Grateau
French Reference Centre for Amyloidosis of Inflammatory Origin and Familial Mediterranean Fever, Hopital Tenon, Assistance Publique Hopitaux de Paris AP HP, 4 rue de la Chine, Paris, F 75020 France
Nat Rev Rheumatol 9:624-9. 2013..For this purpose, we appeal to the philosophical concepts of family resemblance and signature...
- Hemoglobin sickle cell disease complications: a clinical study of 179 casesFrançois Lionnet
Service de Medecine Interne, Hopital Tenon, AP HP, Paris
Haematologica 97:1136-41. 2012..Surprisingly, few studies have been dedicated to this disease, currently considered to be a mild variant of homozygous sickle cell disease. The aim of this study was to update our knowledge about hemoglobin sickle cell disease...
- Auto inflammatory syndromes: Diagnosis and treatmentKatia Stankovic
Internal Medicine Department, Reference Center for Inflammatory Amyloidosis and Familial Mediterranean Fever, Tenon Teaching Hospital, Assistance Publique Hopitaux de Paris, Paris 6 University, France
Joint Bone Spine 74:544-50. 2007..New pathophysiological insights have led to the development of promising maintenance treatments designed to reduce the number and severity of the inflammatory attacks and to diminish the risk of secondary amyloidosis...
- Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapyIsabelle Jeru
Universite Pierre et Marie Curie Paris 6, UMR S933, Paris, France
Arthritis Rheum 63:2142-8. 2011....
- Glomerular hyperfiltration in adult sickle cell anemia: a frequent hemolysis associated featureJean Philippe Haymann
Universite Pierre et Marie Curie, Universite Paris 6, Institut National de la Santé et de la Recherche Médicale Unit 702, Physiology, Paris, France
Clin J Am Soc Nephrol 5:756-61. 2010..Glomerular damage is a common feature revealed by a microalbuminuria or a macroalbuminuria. Although glomerular hyperfiltration has been described for decades in this population, its prevalence in young adults is unknown...
- Concordance between CRP and SAA in familial Mediterranean fever during attack-free period: A study of 218 patientsKatia Stankovic Stojanovic
Assistance Publique Hopitaux de Paris, Hopital Tenon, Centre de référence adulte de la fièvre méditerranéenne familiale, Service de Medecine Interne, F 75020 Paris, France Sorbonne Universités, UPMC Universite Paris 06, Département Hospitalo Universitaire I2B, F 75013 Paris, France Electronic address
Clin Biochem . 2016..In countries where this test is not available, C-reactive protein (CRP), another acute phase reactant, is used instead. However, CRP is low and SAA is increased in some patients and vice versa...
- A family with gastrointestinal amyloidosis associated with variant lysozymeBrigitte Granel
Service de Medecine Interne, Centre Hospitalier et Universitaire Timone, Marseille, France
Gastroenterology 123:1346-9. 2002..When gastrointestinal amyloidosis is diagnosed, it is important to determine with precision the nature of the amyloid fibril proteins, because various types of amyloidosis can involve the gastrointestinal tract...
- Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacksCatherine Dode
Laboratoire de Biochimie et Genetique Moleculaire, Hopital Cochin, Assistance Publique Hopitaux de Paris AP HP, Paris, France
Nephrol Dial Transplant 17:1212-7. 2002..In this study we have characterized FMF and TRAPS genotypes in 38 unrelated patients suffering from amyloidosis AA and recurrent inflammatory attacks...
- Osteo-articular manifestations of amyloidosisPauline M'bappe
Service de Medecine Interne, Hopital Tenon, Paris, France
Best Pract Res Clin Rheumatol 26:459-75. 2012..2-Microglobulin amyloidosis occurs in patients under chronic haemodialysis. It is responsible for CTS, arthralgia and above all a specific destructive spondyloarthropathy. The transthyretin amyloidosis also causes CTS...
- Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patientsSalam Abbara
Service de Medecine Interne, Centre de référence des amyloses d origine inflammatoire et de la fièvre méditerranéenne familiale, Hopital Tenon, Assistance Publique Hopitaux de Paris AP HP, Universite Paris 6, Pierre et Marie Curie UPMC, 20, rue de la Chine, 75020 Paris, France
Joint Bone Spine . 2016..Hidradenitis suppurativa (HS) is an inflammatory cutaneous disease. Those diseases can occur simultaneously among the same individual. Our objective was to describe the features of patients displaying both FMF and HS...
- Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's diseaseZahir Amoura
Hopital Pitie Salpetriere, Paris, France
Arthritis Rheum 52:608-11. 2005..One of the 2 TNFalpha receptors is TNF receptor superfamily 1A (TNFRSF1A). We searched for R92Q TNFRSF1A mutations in patients with Behçet's disease...
- [Hereditary recurrent fever syndromes]Gilles Grateau
Medecine Interne, Hopital Tenon, 4, rue de la Chine, 75970 Paris Cedex 20
Bull Acad Natl Med 189:1235-46; discussion 1246-8. 2005..Proper diagnosis of these entities is needed to begin specific clinical and therapeutic management...
- [Auto-inflammatory syndromes and pregnancy]Katia Stankovic
Service de Medecine Interne, Centre de référence des amyloses d origine inflammatoire et de la fièvre méditerranéenne familiale, Hopital Tenon, Assistance Publique Hopitaux de Paris, Universite Paris 6, Paris Cedex 20, France
Presse Med 37:1676-82. 2008..Breast-feeding is allowed under colchicine with no risk for the baby. There is no indication for systematic amniocentesis in FMF patients treated with colchicine...
- [Hereditary intermittent fevers, other than familial Mediterranean fevers]Gilles Grateau
Service de médecine interne L Hôtel Dieu 75181 Paris
Rev Prat 52:155-9. 2002..A thorough diagnosis of these diseases is crucial for appropriate management and treatment...
- Recurrent Escherichia coli meningitis associated with aspergillar sphenoidal sinusitisAmelie Passeron
Départment de Médecine Interne, Hopital Europeen Georges Pompidou, Paris, France
Scand J Infect Dis 36:492-3. 2004..We report on the case of a 43-y-old man with 4 recurrent spontaneous episodes of E. coli meningitis related to aspergillar sphenoidal sinusitis. Surgical treatment of sinusitis cured the patient...
- [What has become of inflammatory amyloidosis?]Gilles Grateau
Service de médecine interne L Hôtel Dieu 75181 Paris
Rev Prat 53:516-9. 2003..When amyloidosis is progressive in the course of one chronic disease, powerful anti-inflammatory and immunosuppressive drugs can be used...
- TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosisCatherine Dode
Department of Biochemical Genetics, Cochin Hospital, Paris
J Nephrol 16:435-7. 2003..Missense mutations found in these genes are probably responsible for an improvement in function. Renal AA amyloidosis can also be observed...
- Is recurrent aseptic meningitis a manifestation of familial Mediterranean fever? A systematic reviewJean Capron
Neurology Department, AP HP, Hopital Saint Antoine, Paris, France
Clin Exp Rheumatol 31:127-32. 2013..Due to the rarity of both diseases, this claim cannot be assessed with epidemiological methods. We therefore decided to perform a systematic review of the literature to assess the number and validity of published case reports...
- Dramatic beneficial effect of interleukin-1 inhibitor treatment in patients with familial Mediterranean fever complicated with amyloidosis and renal failureKatia Stankovic Stojanovic
Service de Medecine Interne, Hopital Tenon, Assistance Publique Hopitaux de Paris AP HP, Université Paris 6 Pierre et Marie Curie UPMC, Paris, France
Nephrol Dial Transplant 27:1898-901. 2012..The aim of this series study was to evaluate anakinra in patients with FMF complicated with amyloidosis and renal failure...
- A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent feverOlivier Steichen
Service de Medecine Interne, Hopital Tenon, 4 rue de la Chine, F 75020 Paris, France
J Rheumatol 36:1677-81. 2009..Our objective was to define a clinical criterion able to exclude HIDS without the need of genetic testing...
- New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromesCatherine Dode
INSERM EMI 00 05, Institut Cochin, Hopital Cochin, Universite Paris V, Paris, France
Am J Hum Genet 70:1498-506. 2002..Identification of this gene (or these genes) is likely to have significant therapeutic implications for these severe diseases...
- [Amyloidosis AA]Katia Stankovic
Service de Medecine Interne, Hopital Tenon, Assistance Publique Hopitaux de Paris AP HP, Paris Cedex 20, France
Nephrol Ther 4:281-7. 2008..Current treatment aim at decreasing the inflammatory response; drugs targeting other steps of amyloid deposition are currently developed...
- Cystic fibrosis and AA amyloidosis: a survey in the French cystic fibrosis networkKatia Stankovic Stojanovic
Centre de Reference pour les Amyloses d Origine Inflammatoire et de la Fièvre Mediterraneenne Familiale, Service de Medecine Interne, Assistance Publique Hopitaux de Paris, Hopital Tenon, Paris France
Amyloid 21:231-7. 2014..To define the characteristics of CF patients developing AA amyloidosis...
- Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French familySophie Valleix
Laboratoire de Biochimie et Biologie Moleculaire, Hopital Cochin, Assistance Publique Hôpitaux de Paris AP HP et INSERM EMI 00 05, Paris, France
Kidney Int 61:907-12. 2002..Five proteins--transthyretin, fibrinogen alpha-A chain, apolipoprotein AI, lysozyme, apolipoprotein AII, cystatin C and gelsolin--can be associated with hereditary amyloidosis involving the kidney...
- Tuberculosis in adult patients with sickle cell diseaseFrançois Lionnet
centre de la drépanocytose, Hopital Tenon, 4, rue de la Chine, 75020 Paris, France
J Infect 55:439-44. 2007..We conducted a study to assess the epidemiological and clinical pattern of tuberculosis in adult patients with SCD...
- Musculoskeletal disorders in secondary amyloidosis and hereditary feversGilles Grateau
Service de Medecine Interne, L Hôtel Dieu, I, Place du Parvis Notre Dame, 75181 Paris Cedex 04, France
Best Pract Res Clin Rheumatol 17:929-44. 2003..Three other types have been recently characterized clinically as well as genetically. A thorough diagnosis is warranted, as clinical and therapeutic management is specific for each of these diseases...
- Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean feverFawaz Awad
Sorbonne Universités, UPMC University Paris 06, INSERM UMR_S933, Hopital Armand Trousseau, Paris, F 75012, France
Orphanet J Rare Dis 10:76. 2015..Early chemotherapy with interleukin inhibitors could be proposed in such unusual situations. ..
- Thoracic spinal cord compression indicating Wegener's granulomatosis in a patient with a previous presumptive diagnosis of microscopic polyangiitisClaude Bachmeyer
Service de Medecine Interne, CHU Tenon AP HP, 4 rue de la Chine, 75020 Paris, France
Joint Bone Spine 74:382-4. 2007..No other site of involvement was found. Slight clinical improvement was observed under immunosuppressive treatment probably because of spinal cord vessels lesions...
- Clinical and histological characteristics of renal AA amyloidosis: a retrospective study of 68 cases with a special interest to amyloid-associated inflammatory responseJérôme Verine
AP HP, Hopital Saint Louis, Service d Anatomie Pathologique, F 75010 Paris, France
Hum Pathol 38:1798-809. 2007..AA amyloidosis-related inflammation could partly result from an immune response directed against AA fibrils and could induce amyloid resolution and crescents...
- Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndromeVéronique Hentgen
Departement de medecine de l Enfant et de l Adolescent, Service de Dermatologie, Centre Hospitalier Regional et Universitaire de Rennes, Rennes, France
J Rheumatol 32:747-51. 2005..Clinical and genetic observations suggest that Muckle-Wells syndrome, CINCA, and familial cold urticaria are various phenotypic expressions of the same disease...
- Diagnostic tools for amyloidosisEric Hachulla
Internal Medicine Department, Centre Hospitalier Regional et Universitaire, Hopital Claude Huriez, 59037, Lille Cedex, France
Joint Bone Spine 69:538-45. 2002..Deposits are usually seen in the liver and spleen. SAP component scintigraphy can provide support for the diagnosis of amyloidosis in patients with negative histological studies. Tissue retention of radioactivity predicts survival...
- [Familial Mediterranean fever and other hereditary recurrent inflammatory diseases]Gilles Grateau
Presse Med 34:907. 2005
- Localized amyloidosis: a survey of 35 French casesMarc Paccalin
Department of Internal Medicine, Hopital Jean Bernard, BP 577, 86021, Poitiers Cedex, France
Amyloid 12:239-45. 2005..Such patients should be referred to specialist centers for further evaluation. Management requires close follow-up to exclude recurrence and to determine the appropriate symptomatic treatment...
- Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean feverLatifa Belmahi
Laboratoire de Genetique, Institut National D Hygiene, 11400 Rabat, Morocco
C R Biol 329:71-4. 2006..We estimated the frequency of MEFV mutation carriers among the Arab Maghrebian population at around 1%, which is significantly lower than in non-Ashkenazi Jews, Armenians or Turks...
- Analysis of the NOD2/CARD15 gene in patients affected with the aseptic abscesses syndrome with or without inflammatory bowel diseaseMarc François Jean André
INSERM, U384, Clermont Ferrand, 63001, France
Dig Dis Sci 53:490-9. 2008..It is associated in two cases out of three with inflammatory bowel disease (IBD), and in particular with CD. We wanted to assess if changes on gene NOD2/CARD15 could contribute to the development of AA in patients with and without IBD...
- Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French familyNadine Magy
Service de médecine interne et immunologie clinique, Centre Hospitalo Universitaire Jean Minjoz, Besancon, France
Amyloid 9:272-5. 2002..This mutation (G47A) was previously identified in two different families of Italian origin both of which had FAP and cardiomyopathy. Here we report the first identification of this mutation in a non-Italian family...
- Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean feverIsabelle Touitou
Blood 102:409. 2003
- Underdiagnosed amyloidosis: amyloidosis of lysozyme variantBrigitte Granel
Am J Med 118:321-2. 2005