Genomes and Genes
- A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutationBenedicte Neven
Inserm U768, Hopital Necker Enfants Malades, Paris, France
Blood 118:4798-807. 2011..We also noted a significantly greater occurrence of disease-related symptoms in male than in female patients...
- Cryopyrinopathies: update on pathogenesis and treatmentBenedicte Neven
Hopital Necker Enfants Malades, Paris, France
Nat Clin Pract Rheumatol 4:481-9. 2008..The development of therapeutic options for these cryopyrinopathies illustrates effective translation of basic science to clinical practice and the convergence of human genetics and targeted therapies...
- Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndromeBenedicte Neven
Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, Inserm U768, Universite Rene Descartes Paris 5, Paris, France
Arthritis Rheum 62:258-67. 2010..This study was undertaken to assess the long-term efficacy and safety of anakinra treatment in patients with NOMID/CINCA syndrome...
- [International classification of primary immunologic deficiencies]Benedicte Neven
Service d Immuno Hématologie Pédiatrique, Hopital Necker Enfants Malades, 75743 Paris 15
Rev Prat 57:1646-51. 2007
- HIV-1 activates Cdc42 and induces membrane extensions in immature dendritic cells to facilitate cell-to-cell virus propagationDamjan S Nikolic
Department of Dermatology and Venereology, Microbiology and Molecular Medicine, University Hospitals and Medical School of Geneva, Geneva, Switzerland
Blood 118:4841-52. 2011..Our results demonstrate that HIV-1 binding on immature dendritic cells enhances the formation of membrane extensions that facilitate HIV-1 transfer to CD4(+) T lymphocytes...
- Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infeRaffaele Renella
Unité d Immunologie et Hématologie Pédiatrique, Faculté de Médecine Université Réné Descartes, Paris, France
Br J Haematol 134:510-6. 2006..We suggest that the reduced survival after HLA-identical HSCT may be caused by the high incidence of pre-existing viral infections and associated with the onset of severe acute GVHD...
- Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patientsMarie Ouachée-Chardin
Department of Pediatric Immuno Hematology, Necker Enfants Malades Hospital, Paris, France
Pediatrics 117:e743-50. 2006..Chemotherapy- or immunotherapy-based treatments can achieve remission. Hematopoietic stem cell transplantation (HSCT), however, is the only curative option, but optimal modalities and long-term outcome are not yet well known...
- Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patientsJana Pachlopnik Schmid
INSERM, Unité U768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Paris, France
Blood 114:211-8. 2009..Additional studies are required to improve treatment...
- Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiencyBenedicte Neven
Unité d Immuno Hématologie et Rhumatologie Pédiatrique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France
Blood 113:4114-24. 2009..In most cases, HSCT enables long-term survival with infrequent sequelae. However, the occurrence of relatively late-onset complications is a concern that requires specific means of prevention and justifies careful patient follow-up...
- FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of functionAude Magerus-Chatinet
Inserm U768, Paris, France
Blood 113:3027-30. 2009..Overall, we showed that determination of the FAS-L represents, together with the IL-10 concentration and the DNT cell percentage, a reliable tool for the diagnosis of ALPS...
- A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiencyBenedicte Neven
Unité d Immuno Hématologie Pédiatrique, Hopital Necker Enfant Malades, Assistance publique des Hôpitaux de Paris APHP, Paris, France
Blood 122:3713-22. 2013..Hence, IL-10R deficiency is associated with a high risk of developing B-cell lymphoma. Our results revealed an unexpected role of the IL-10R pathway in lymphomagenesis. ..
- Severe cutaneous bacillus Calmette-Guérin infection in immunocompromised children: the relevance of skin biopsyAmélie Gantzer
Department of Dermatology, Hopital Necker Enfants Malades, Universite Rene Descartes, APHP, Paris, France
J Cutan Pathol 40:30-7. 2013..Skin biopsy is a useful part of the diagnostic workup for disseminated BCGitis, directing the clinician toward severe immunodeficiency. Moreover, skin biopsy may be a useful means of monitoring immune restoration for prognostic purposes...
- Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndromeNizar Mahlaoui
Unité d immunologie et d hématologie pédiatrique, Hôpital Universitaire Necker Enfants Malades, Assistance Publique des Hopitaux de Paris AP HP, Paris, France
Blood 121:1510-6. 2013..We suggest that HSCT is a curative strategy in this subgroup of patients and should be performed as early in life as possible, even when a fully matched donor is lacking...
- Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patientsBenedicte Neven
Unité d Immuno Hématologie Pédiatrique, Hopital Necker Enfant Malades, Assistance Publique des Hopitaux de Paris, Paris, France Développement normal et pathologique du système immunitaire, Unité INSERM U768, Université Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France
Blood 124:1597-609. 2014..Similar observations were made in spleens of fas-deficient mice. Our data revealed an unexpected mechanism by which ALPS results in anti-polysaccharide IgM antibody production-specific defect. Splenectomy should be avoided. ..
- Immune reconstitution after haematopoietic stem cell transplantation: obstacles and anticipated progressMarina Cavazzana-Calvo
Assistance Publique Hopitaux de Paris AP HP, Department of Biotherapy, Hopital Necker Enfants Malades, Paris, France
Curr Opin Immunol 21:544-8. 2009..If these objectives could be achieved, the haploidentical procedure would become more readily available to patients affected by acquired or inherited disorders of the haematopoietic system...
- Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field dataMarie Caroline Clement
URC Eco Clinical Research Unit in Health Economics, Assistance Publique Hopitaux de Paris, Hotel Dieu Hospital, Paris, France
J Allergy Clin Immunol 135:1589-93. 2015..The inclusion of severe combined immunodeficiency (SCID) in a Europe-wide screening program is currently debated...
- Temporal and spatial compartmentalization of drug-resistant cytomegalovirus (CMV) in a child with CMV meningoencephalitis: implications for sampling in molecular diagnosisPierre Frange
Unite d immunologie, Hématologie et Rhumatologie Pédiatrique, Assistance Publique Hopitaux de Paris AP HP, Hopital Necker Enfants Malades, Paris, France
J Clin Microbiol 51:4266-9. 2013..However, wild-type cytomegalovirus was evidenced in blood when the meningoencephalitis was diagnosed. Treatment of meningoencephalitis should be adapted to all previously identified resistance mutations in any compartment. ..
- Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutationAude Magerus-Chatinet
Unité Inserm 768, Hopital Necker Enfants Malades, Paris, France
J Allergy Clin Immunol 131:486-90. 2013..Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic nonmalignant lymphoproliferation, accumulation of double-negative T cells, hypergammaglobulinemia G and A, and autoimmune cytopenia...
- Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulationAude Magerus-Chatinet
Inserm U768, Universite Paris Descartes, Hopital Necker Enfants Malades, Paris, France
J Clin Invest 121:106-12. 2011..This observation provides the molecular bases of a nonmalignant autoimmune disease development in humans and may shed light on the mechanism underlying the occurrence of other autoimmune diseases...
- Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathyNicolette Moes
Universite Paris Descartes, Paris, France
Gastroenterology 139:770-8. 2010..We analyzed the molecular basis of neonatal or early postnatal AIE using clinical, genetic, and functional immunological studies...
- Ocular modifications in a young girl with cryopyrin-associated periodic syndromes responding to interleukin-1 receptor antagonist anakinraCeline Terrada
Department of Ophthalmology, APHP, Pitie Salpetriere Hospital, 75013, Paris, France
J Ophthalmic Inflamm Infect 1:133-6. 2011..Ophthalmologic signs normalized. This ophthalmologic description (optic nerve and cornea) has never been illustrated, even if ocular affections are classic in the cryopyrin-associated periodic syndromes...
- Stem cell transplantation for primary immunodeficiencies: the European experienceMarina Cavazzana
aBiotherapy Department, Necker Children s Hospital, Assistance Publique Hôpitaux de Paris bBiotherapy Clinical Investigation Center, Groupe Hospitalier Universitaire Ouest, Assistance Publique Hopitaux de Paris, INSERM cParis Descartes Sorbonne Paris Cité University, Imagine Institute dINSERM UMR 1163, Laboratory of Human Lymphohematopoiesis eImmunology and Pediatric Hematology Department, Assistance Publique Hôpitaux de Paris fCollège de France, Paris, France
Curr Opin Allergy Clin Immunol 14:516-20. 2014..This review focuses on the recent advances in hematopoietic stem cell transplantation (HSCT) for PIDs, as it remains the only potentially curative option for many of these diseases...
- CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary studyFabien Touzot
Département de Biothérapie, Centre d Investigation Clinique intégré en Biothérapies, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris AP HP, Paris, France Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France INSERM UMR1163, Paris, France Electronic address
J Allergy Clin Immunol 135:1303-9.e1-3. 2015..The treatment of CIDs with allogeneic hematopoietic stem cell transplantation (HSCT) is complicated by a high incidence of life-threatening infections and an increased risk of graft-versus-host disease (GVHD)...
- Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1Fabien Touzot
Département de Biothérapie, Centre d Investigation Clinique intégré en Biothérapies, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France INSERM UMR1163, Paris, France
Blood 125:3563-9. 2015..If data of safety are confirmed over the long term, gene therapy for SCID-X1 appears to be an equal, if not superior, alternative to haploidentical HSCT. ..
- Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adultsOlivier Lambotte
Service de Medecine Interne, Assistance Publique Hopitaux de Paris, Hôpital du Kremlin Bicêtre, Le Kremlin Bicetre, France
Haematologica 98:389-92. 2013..Autoimmune lymphoproliferative syndrome may well be diagnosed in adulthood. The occurrence of additional genetic events may account for the delayed disease onset...
- Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?Juliana F Fernandes
EUROCORD, Hopital Saint Louis, Paris, France
Blood 119:2949-55. 2012..For children with SCID and no HLA-identical sibling donor, both UCBT and MMRDT represent available HSC sources for transplantation with quite similar outcomes...
- Characteristics of HIV-infected children recently diagnosed in Paris, FranceEugenia Macassa
Unité d Immunologie Hématologie Pédiatriques, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015, Paris, France
Eur J Pediatr 165:684-7. 2006..HIV-1 infection should be taken into consideration in children born in countries with a high prevalence of HIV, even if they have been living in France for several years and present no symptoms...
- Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCUBenedicte Neven
INSERM U429, Hopital Necker Enfants Malades, Paris, France
Blood 103:2809-15. 2004....
- Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory conditionIsabelle Melki
Department of Pediatric Immunology and Rheumatology UIH, Hopital Necker Enfants Malades, 149 rue de Sevres, F 75743 Paris, France
Pediatrics 131:e1308-13. 2013....
- Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working GroupBenedicte Pigneur
Universite Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France Assistance Publique Hôpitaux de Paris, Hopital Necker Enfants Malades, Service de Gastroentérologie pédiatrique, Paris, France Department of Pediatric Gastroenterology, ErasmusMC Sophia Children s Hospital, Rotterdam, The Netherlands Department of Gastroenterology, Great Ormond Street Hospital for Sick Children and Institute of Child Health, London, United Kingdom Pediatric Gastroenterology Unit, Centro Hospitalar do Porto, Porto, Portugal Marienhospital, Bonn, Germany Department of Gastroenterology, Hepatology and Feeding Disorders, The Children s Memorial Health Institute, Warsaw, Poland Gastroenterologia, Endoscopia Digestiva, Epatologia e Cura del Bambino con Trapianto di Fegato, Dipartimento Salute della Donna e del Bambino, Padova, Italy Assistance Publique Hôpitaux de Paris, Hopital Necker Enfants Malades, Service d Anatomopathologie, Paris, France Assistance Publique Hôpitaux de Paris, Hopital Necker Enfants Malades, Service de Radiologie, Paris, France Inserm U989, Paris, Turkey
Inflamm Bowel Dis 19:2820-8. 2013..We set up the GENetically determined ImmUne-mediated enteropathieS (GENIUS) network and collected infants with a proven defect of the IL10 axis for accurate phenotyping of disease presentation and evolution...
- Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriersClaire Aguilar
Laboratory of Lymphocyte Activation and EBV Susceptibility, INSERM UMR 1163, Hospital Necker Enfants Malades, Paris, France University Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France
J Allergy Clin Immunol 134:1131-41.e9. 2014..X-linked inhibitor of apoptosis (XIAP) deficiency causes X-linked lymphoproliferative syndrome type 2. IBD has been reported in some XIAP-deficient patients...
- Allogeneic bone marrow transplantation in mevalonic aciduriaBenedicte Neven
Unité d Immuno Hématologie et Rhumatologie Pédiatrique, Assistance Publique Hopitaux de Paris, Paris, France
N Engl J Med 356:2700-3. 2007..We observed sustained remission of febrile attacks and inflammation during a 15-month follow-up period...
- Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotypeRomain Micol
CEREDIH, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, 75743 Paris Cedex 15, France
J Allergy Clin Immunol 128:382-9.e1. 2011..The course of the disease is characterized by neurologic manifestations, infections, and cancers...
- Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotypeMarina Cavazzana-Calvo
Institut National de la Sante et de la Recherche Medicale, Unité 768, Paris, France
Blood 109:4575-81. 2007....
- Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type IJohan Moreau
Pediatric Noninvasive Ventilation and Sleep Unit, AP HP, Hopital Necker Enfants Malades, Paris, France Physiological Department and INSERM U1046 UMR 9214, University of Montpellier, Montpellier, France Electronic address
Mol Genet Metab 116:275-80. 2015..Hematopoietic stem cell transplantation (HSCT) is the preferred treatment for patients with severe MPS I diagnosed early in life. The protective effect of HSCT on the development of long term OSAS is not known...
- Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patientsNizar Mahlaoui
Unité d Immunologie et Hématologie Pédiatrique, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
Pediatrics 120:e622-8. 2007....