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2 raisons identifiées
Auteur de référence en rhumatologie
50 articles scientifiques publiés — un praticien à la pointe de la recherche
Délais de RDV courts dans la région
336.2 rhumatos / 100 000 hab. — département bien doté
✨ Génération du profil synthétique IA en cours…
Articles déposés en accès libre sur l'archive ouverte des universités françaises (HAL) — gage d'activité de recherche en France.
Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.
Source : HAL — archive ouverte CCSD/CNRS (couvre articles, chapitres EMC, communications congrès, thèses).
GHU CUP SITE NECKER ENFANTS MALADES
149 R DE SEVRES, 75743 PARIS CEDEX 15
Secteur de conventionnement non disponible (médecin hospitalier ou non présent dans l'Annuaire santé CNAM des libéraux conventionnés).
Lien Doctolib = recherche Google site:doctolib.fr (le 1er résultat est presque toujours le profil correct s'il existe).
Genes · 2022
To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. For this purpose, we searched the databases PubMed and OMIM for the term “ectodermal dysplasia”, referring mainly to changes in the last 5 years. We also tried to obtain information about those diseases on which the last scientific report appeared more than 15 years ago by contacting the authors of the most recent publication. A group of experts, composed of researchers who attended the 8th International Conference on Ectodermal Dysplasias and additional members of the previous classification panel, reviewed the proposed amendments and agreed on a final table listing all 49 currently known ectodermal dysplasias for which the molecular genetic basis has been clarified, including 15 new entities. A newly reported ectodermal dysplasia, linked to the gene LRP6, is described here in more detail. These ectodermal dysplasias, in the strict sense, should be distinguished from syndromes with features of ectodermal dysplasia that are related to genes extraneous to the currently known pathways involved in ectodermal development. The latter group consists of 34 syndromes which had been placed on the previous list of ectodermal dysplasias, but most if not all of them could actually be classified elsewhere. This update should streamline the classification of ectodermal dysplasias, provide guidance to the correct diagnosis of rare disease entities, and facilitate the identification of individuals who could benefit from novel treatment options.
International journal of molecular sciences · 2023
X-linked hypohidrotic ectodermal dysplasia (XLHED), caused by a genetic deficiency of ectodysplasin A1 (EDA1), is a rare developmental disorder of ectodermal derivatives such as hair, sweat glands, and teeth. The absence of sweat glands and perspiration can evoke life-threatening hyperthermia. As molecular genetic findings are not always conclusive, the concentrations of circulating EDA1 may help to distinguish between total and partial EDA1 deficiencies. We previously treated nine male patients with obvious signs of XLHED with a recombinant EDA1 replacement protein, Fc-EDA, either shortly after birth (n = 3) or by prenatal administration in gestational week 26 and beyond (n = 6). Here, we present the long-term follow-up for up to six years. In patients who had received Fc-EDA after birth, neither sweat glands nor sweating ability were detected at the age of 12–60 months. In contrast, prenatal EDA1 replacement resulted in ample sweat gland development and pilocarpine-inducible sweating in all treated subjects, who also attained more permanent teeth than their untreated affected relatives. Normal perspiration has persisted for six years in the two oldest boys treated repeatedly with Fc-EDA in utero. When they had a sauna, adequate thermoregulation was evidenced. Lower sweat production after single prenatal dosing may indicate a dose–response relationship. The absence of circulating EDA1 in five prenatally treated subjects proved that these children would have been unable to perspire if they had been left untreated. The sixth infant was shown to produce an EDA1 molecule that, albeit interacting with its cognate receptor, cannot activate EDA1 signaling. In conclusion, a causal treatment of XLHED before birth is feasible.
The Journal of experimental medicine · 2024
Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pigmenti (IP), heterozygous for loss-of-function (LOF) NEMO variants, from 99 kindreds in 10 countries. Forty-seven of these patients (36%) have auto-Abs neutralizing IFN-α and/or IFN-ω, a proportion 23 times higher than that for age-matched female controls. This proportion remains stable from the age of 6 years onward. On imaging, female patients with IP have a small, abnormally structured thymus. Auto-Abs against type I IFNs confer a predisposition to life-threatening viral diseases. By contrast, patients with IP lacking auto-Abs against type I IFNs are at no particular risk of viral disease. These results suggest that IP accelerates thymic involution, thereby underlying the production of auto-Abs neutralizing type I IFNs in at least a third of female patients with IP, predisposing them to life-threatening viral diseases.
Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).
Molecular therapy : the journal of the American Society of Gene Therapy · 2026 · Journal Article
Di Girolamo D, Urciuoli G, Sol S, Ferniani M, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV · 2026 · Letter
Descos M, Kuentz P, Hadj-Rabia S, Mallet S, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV · 2026 · Letter
Miquel J, Deblock C, Ventejou S, Espagnon C, et al.
The Journal of clinical endocrinology and metabolism · 2026 · Journal Article
Improda N, Katugampola H, Cerbone M, Shah P, et al.
Presse medicale (Paris, France : 1983) · 2026 · Journal Article
Moreno-Artero E, Mashiah J, Morice-Picard F, Hadj-Rabia S
Presse medicale (Paris, France : 1983) · 2026 · Editorial
Hadj-Rabia S, Lorette G
JAMA dermatology · 2026 · Journal Article
Crespi O, Bellon N, Bonigen J, Hadj-Rabia S, et al.
Orphanet journal of rare diseases · 2025 · Journal Article
Schneider H, Schneider M, Lia M, Grange DK, et al.
Nature medicine · 2025 · Published Erratum
Bal E, Park HS, Belaid-Choucair Z, Kayserili H, et al.
Social science & medicine (1982) · 2025 · Journal Article
Fournier H, Pillaud N, Morice-Picard F, Hadj-Rabia S, et al.
Investigative ophthalmology & visual science · 2025 · Journal Article
Rateaux M, Hadj-Rabia S, Barrois R, Zambrowski O, et al.
The British journal of dermatology · 2025 · Journal Article
Gendrot B, Falabrègue M, Huet C, Matar S, et al.
Biology of the cell · 2025 · Journal Article
Salavessa L, Rouabah M, Pernea P, Hadj-Rabia S, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV · 2025 · Letter
Nicolle R, Russell L, Abadie V, Nitschke P, et al.
EBioMedicine · 2025 · Journal Article
Vignard V, Maillasson M, Bigot A, Küry S, et al.
Science translational medicine · 2025 · Journal Article
Jamet A, Fu X, Dietrich C, Bellon N, et al.
The Journal of investigative dermatology · 2024 · Journal Article
Berthy C, Gagnoux-Palacios L, Madrange M, Bodemer C, et al.
The Journal of experimental medicine · 2024 · Journal Article
Rosain J, Le Voyer T, Liu X, Gervais A, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV · 2024 · Journal Article
Bessis D, Bursztejn AC, Morice-Picard F, Capri Y, et al.
Pigment cell & melanoma research · 2024 · Journal Article
Michaud V, Sequeira A, Mercier E, Lasseaux E, et al.
International journal of molecular sciences · 2024 · Journal Article
Diallo M, Courdier C, Mercier E, Sequeira A, et al.
European journal of dermatology : EJD · 2024 · Journal Article
Schieber H, Hadj-Rabia S, Giuseppi A, Iacobelli S, et al.
Journal of the American Academy of Dermatology · 2024 · Letter
Bellon N, Bataille P, Bonigen J, Charbit-Henrion F, et al.
American journal of medical genetics. Part A · 2024 · Case Reports
Steffann J, De Oliveira Santos J, Zelbin AL, Hadj-Rabia S, et al.
Science translational medicine · 2024 · Journal Article
Perrin S, Protic S, Bretegnier V, Laurendeau I, et al.
BMC medicine · 2024 · Journal Article
Fournier H, Hasdenteufel M, Garrouteigt C, Perie M, et al.
International journal of molecular sciences · 2023 · Journal Article
Schneider H, Schweikl C, Faschingbauer F, Hadj-Rabia S, et al.
The British journal of dermatology · 2023 · Journal Article
Bozonnat A, Polivka L, Leclerc-Mercier S, Luscan R, et al.
Clinical genetics · 2023 · Journal Article
Faivre L, Crépin JC, Réda M, Nambot S, et al.
Journal of the American Academy of Dermatology · 2022 · Journal Article
Boccara O, Mazereeuw J, Martin L, Bessis D, et al.
International journal of molecular sciences · 2022 · Journal Article
Haftek M, Oji V, Feldmeyer L, Hohl D, et al.
Genes · 2022 · Journal Article
Fertitta L, Charbit-Henrion F, Leclerc-Mercier S, Nguyen-Khoa T, et al.
Genes · 2022 · Journal Article
Peschel N, Wright JT, Koster MI, Clarke AJ, et al.
Journal of the American Academy of Dermatology · 2022 · Journal Article
Dill PE, Bessis D, Guidi B, Hadj-Rabia S, et al.
Genes · 2022 · Journal Article
Moreno-Artero E, Morice-Picard F, Lasseaux E, Robert MP, et al.
Annals of the New York Academy of Sciences · 2022 · Journal Article
Obtel N, Le Cabec A, Nguyen TN, Giabicani E, et al.
The Journal of investigative dermatology · 2022 · Journal Article
Coutier J, Bonnette M, Martineau S, Mercadier A, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV · 2026 · Letter
Seyler M, Bodemer C, Hadj-Rabia S
Annales de dermatologie et de venereologie · 2025 · Journal Article
Mahé E, di Lernia V, Bursztejn AC, Hadj-Rabia S, et al.
Orphanet journal of rare diseases · 2025 · Journal Article
Cavadias I, Viaud M, Falampin M, Cheikhelard A, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV · 2024 · Journal Article
Orphanet journal of rare diseases · 2025 · Journal Article
Cavadias I, Viaud M, Falampin M, Cheikhelard A, et al.
The British journal of dermatology · 2025 · Journal Article
Boudhabhay I, Bellon N, Avramescu M, Bataille P, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV · 2025 · Letter
Bonigen J, Charbit-Henrion F, Leclerc-Mercier S, Rosenthal JM, et al.
Acta dermato-venereologica · 2023 · Journal Article
Dufresne H, Maincent O, Taieb C, Bodemer C, et al.
Genes · 2023 · Clinical Trial Protocol
Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, et al.
Pediatric dermatology · 2023 · Journal Article
Hanafi B, Beauchet A, Di Lernia V, Lasek A, et al.
The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism
Abstract Background To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better underst
The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism
Abstract Background To date, almost no research on the psychosocial implications of albinism has been conducted in France and an exploration of albinism-related experiences could be beneficial, in order to better underst
Source : DataCite — DOIs pour datasets, logiciels, protocoles, registres patient. Hors articles (déjà couverts).
Bataille P, Lebrun-Vignes B, Bettuzzi T, Ingen-Housz-Oro S, et al.
The British journal of dermatology · 2023 · Journal Article
Welfringer-Morin A, Bataille P, Drummond D, Bellon N, et al.
Pediatric dermatology · 2023 · Journal Article
Hanafi B, Beauchet A, Di Lernia V, Lasek A, et al.
Pediatric dermatology · 2022 · Case Reports
Salik D, Hadj-Rabia S, Hohl D, Vahidnezhad H, et al.
European journal of pediatrics · 2022 · Journal Article
Grodner C, Miquel J, Hadj-Rabia S, Mallet S, et al.
Dermatologic therapy · 2022 · Journal Article
Mahé E, Beauchet A, Hadj-Rabia S, Mazereeuw-Hautier J, et al.
✨ Profil synthétique
IA · 21/05/2026Le Dr M SMAIL HADJ-RABIA est un rhumatologue exerçant à Paris. Ses publications sur PubMed couvrent divers domaines tels que la pédiatrie, l'épidémiologie, l'économie de la santé, la pharmacovigilance et les données du monde réel. Il semble avoir une approche multidisciplinaire dans son travail.
Expertises présumées
Synthèse automatique à partir des sources publiques (HAL, OpenAlex, theses.fr, ClinicalTrials.gov, FAI²R, ANS). Pas une évaluation clinique. Le médecin peut corriger via son compte.