Search Results - "Georgin‐Lavialle, S."

Paediatric mastocytosis: a systematic review of 1747 cases by Méni, C., Bruneau, J., Georgin-Lavialle, S., Le Saché de Peufeilhoux, L., Damaj, G., Hadj-Rabia, S., Fraitag, S., Dubreuil, P., Hermine, O., Bodemer, C.

“…Summary Paediatric mastocytosis was previously considered to be a benign and spontaneously regressing disease. However, this evolution is impossible to…”
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Paediatric mastocytosis: long‐term follow‐up of 53 patients with whole sequencing of KIT. A prospective study by Meni, C., Georgin‐Lavialle, S., Le Saché de Peufeilhoux, L., Jais, J.P., Hadj‐Rabia, S., Bruneau, J., Fraitag, S., Hanssens, K., Dubreuil, P., Hermine, O., Bodemer, C.

“…Summary Background Mastocytosis is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells. The adult and…”
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Tattooing and autoinflammatory diseases: a study among 197 French patients from the JIR cohort by Kluger, N., Bourguiba, R., Delplanque, M., Hentgen, V., Kone‐Paut, I., Savey, L., Grateau, G., Georgin‐Lavialle, S.

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LC‐MS/MS and immuno‐electron subtyping combined with genetics show that OSMR mutations cause amyloid deposition of keratins 5/14 in familial primary localized cutaneous amyloidosis by Bourguiba, R., Bachmeyer, C., Moguelet, P., Kaaki, S., Ory, C., Touchard, G., Cattan, E., Georgin‐Lavialle, S., Colombat, M., Valleix, S.

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Extensive purpuric lesions due to vitamin C deficiency and leucocytoclastic vasculitis as the initial sign of lung adenocarcinoma by Bachmeyer, C., Moguelet, P., Marciano, S., Georgin‐Lavialle, S., Monfort, J. B., Gkalea, V., Mattioni, S.

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Paediatric mastocytosis: a 12‐year follow‐up cohort by Meni, C., Georgin‐Lavialle, S., Le Sachè de Peufeilhoux, L., Jais, J.P., Hadj‐Rabia, S., Bruneau, J., Fraitag, S., Hanssens, K., Dubreuil, P., Hermine, O., Bodemer, C.

“…Summary This study from Paris, France, followed 53 children with mastocytosis as they grew up. In mastocytosis there are increased numbers of mast cells (best…”
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Efficacy of Anakinra for Various Types of Crystal-Induced Arthritis in Complex Hospitalized Patients: A Case Series and Review of the Literature by Georgin-Lavialle, S., Hermine, Olivier, Boue, F., Bienvenu, B., Pressiat, C., Decottignies, A., Frenzel, L., Deshayes, S., Aouba, A., Damaj, G.

“…Background. There are few data on anakinra use after failure of conventional medications for crystal-induced peripheral arthritis and/or crowned dens syndrome…”
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Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation by Vyzhga, Y, Wittkowski, H, Hentgen, V, Georgin-Lavialle, S, Theodoropoulou, A, Fuehner, S, Jesenak, M, Frenkel, J, Papadopoulou-Alataki, E, Anton, Jordi, Olivieri, A Nunzia, Brunner, J, Sanchez, J, Koné-Paut, I, Fingerhutova, S, Pillet, P, Meinzer, U, Khubchandani, R, Jansson, A, Haas, J-P, Berendes, R, Kallinich, T, Horneff, G, Lilienthal, E, Papa, R, Foell, D, Lainka, E, Caorsi, R, Gattorno, M, Hofer, M

“…Systemic autoinflammatory disorders (SAIDs) represent a growing spectrum of diseases characterized by dysregulation of the innate immune system. The most…”
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Decreased tryptophan and increased kynurenine levels in mastocytosis associated with digestive symptoms by Georgin‐Lavialle, S., Launay, J.‐M., Côté, F., Soucié, E., Soria, A., Damaj, G., Moura, D. S., Canioni, D., Hanssens, K., Chandesris, M.‐O., Barète, S., Dubreuil, P., Lortholary, O., Hermine, O., Sokol, H.

“…The main metabolism pathway of tryptophan is protein formation, but it can also be metabolized into serotonin and kynurenine. Indoleamine 2,3‐dioxygenase (IDO)…”
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Absence of circulating mast cell precursors in paediatric mastocytosis: could it reflect a different pathophysiology between adults and children with mastocytosis? by Georgin-Lavialle, S., Le Saché-de Peufeilhoux, L., Martin, L., Soucie, E., Bruneau, J., Barete, S., Dubreuil, P., Bodemer, C., Hermine, O., Lhermitte, L.

“…Background Mastocytosis is a heterogeneous disease whose different subtypes also vary in aggressivity. Children typically present with cutaneous mastocytosis…”
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Genetic mosaicism in Systemic Auto-Inflammatory Diseases: A review of the literature by Parentelli, A-S, Boursier, G, Cuisset, L, Georgin-Lavialle, S

“…Systemic auto-inflammatory diseases (SAIDs) are disorders associated with deregulation of innate immunity in which patients present classically with systemic…”
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Anti-SSA/Ro and anti-SSB/La antibody-mediated congenital heart block by Costedoat-Chalumeau, N, Georgin-Lavialle, S, Amoura, Z, Piette, J-C

“…When anti-SSA/Ro antibodies are present in sera of mothers with connective tissue diseases, the incidence of congenital heart block (CHB) has been reported to…”
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Monogenic auto-inflammatory diseases associated with actinopathies: A review of the literature by Mertz, P, Hentgen, V, Boursier, G, Delon, J, Georgin-Lavialle, S

“…Auto-inflammatory diseases (AIDs) are diseases resulting from an inappropriate activation of innate immunity in the absence of any infection. The field of…”
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A bifid albumin peak of recent onset by Bachmeyer, C, Georgin-Lavialle, S

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A20 haploinsufficiency: what do clinicians need to know? by Elhani, I, Aouba, A, Riller, Q, Vergneault, H, Boursier, G, Rieux-Laucat, F, Hentgen, V, Georgin-Lavialle, S

“…A20 Haploinsufficiency (HA20) is a monogenic autoinflammatory disease associated with an autosomal dominant mutation in the TNFAIP3 gene. It induces a defect…”
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Cryopyrin-associated periodic syndromes by Quartier, P, Rodrigues, F, Georgin-Lavialle, S

“…Cryopyrin-associated periodic syndromes (CAPS) are linked to one single gene mutations, however they are associated with 3 syndromes, which are, from the…”
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Is neutrophilic dermatosis a manifestation of familial Mediterranean fever? by Delplanque, M, Ducharme-Bénard, S, Moguelet, P, Chasset, F, Grateau, G, Georgin-Lavialle, S, Bachmeyer, C

“…Objectives: Familial Mediterranean fever (FMF) is the most frequent monogenic autoinflammatory disease. It is associated with MEFV mutations. Its main features…”
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French protocol for the diagnosis and management of familial Mediterranean fever by Georgin-Lavialle, S., Savey, L., Cuisset, L., Boursier, G., Boffa, J.-J., Delplanque, M., Bourguiba, R., Monfort, J.-B., Touitou, I., Grateau, G., Kone-Paut, I., Hentgen, V.

“…Familial Mediterranean fever is the most common monogenic auto-inflammatory disease in the world. It mainly affects people originating from the Mediterranean…”
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Cutaneous manifestations of monogenic auto-inflammatory diseases: An international cohort study from the Juvenile Inflammatory Rheumatism cohort by Monfort, J.B., Deshayes, S., Dusser, P., Bourguiba, R., Savey, L., Vinit, C., Koné-Paut, I., Amaryan, G., Theodoropoulou, K., Guedri, R., Pachlopnik, J., Belot, A., Melki, I., Perveen Maldar, N., Wouters, C., Woerner, A., Kaiser, D., Berthet, G., Merlin, E., Pillet, P., Richer, O., Barbier, C., Ballot, C., Bolt, I., Wittkowski, H., Rotornaz, K., Jurquet, A.L., Poignant, S., Meinzer, U., Vanoni, F., Dan, D., Lega, J.C., Brunner, J., Aouba, A., Uettwiller, F., Kaplanski, G., Ardois, S., Schleinitz, N., Dehoorne, J., Hentgen, V., Georgin-Lavialle, S.

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Collapsing glomerulopathy in systemic autoimmune disorders: a case occurring in the course of full blown systemic lupus erythematosus by Amoura, Z, Georgin-Lavialle, S, Haroche, J, Merrien, D, Brocheriou, I, Beaufils, H, Piette, J-C

“…The following serologies were negative: HIV, cytomegalovirus (CMV), hepatitis C virus, hepatitis B virus, Treponema pallidum haemagglutination-Venereal Disease…”
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