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Genomes and GenesSpecies | Capucine PicardSummaryCountry: France Publications
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Publications
Human primary immunodeficiencies of type I interferonsEmmanuelle Jouanguy
Laboratory of Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale, U550, 75015 Paris, France
Biochimie 89:878-83. 2007..These novel inherited disorders strongly suggest that type I IFN-mediated immunity is essential for protection against natural infections caused by several viruses in humans...
Hematopoietic stem cell transplantation and other management strategies for MHC class II deficiencyCapucine Picard
Study Center of Primary Immunodeficiencies, Necker Hospital, Assistance Publique Hopitaux de Paris, 149 rue de Sevres, Paris 75015, France
Immunol Allergy Clin North Am 30:173-8. 2010..Hematopoietic stem cell transplantation is the only known treatment available to cure MHC class II expression deficiency...
Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiencyCapucine Picard
Study Center of Primary Immunodeficiencies, Assistance Publique Hoˆpitaux de Paris, Necker Hospital, France
Clin Microbiol Rev 24:490-7. 2011..These disorders were initially thought to be rare but have now been diagnosed in over 170 patients worldwide. We review here the infectious diseases affecting patients with inborn errors of NF-κB-dependent TLR and IL-1R immunity...- 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 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... - Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national surveyMarie Olivia Chandesris
Hematology Department, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, Paris, France
Medicine (Baltimore) 91:e1-19. 2012..Overall, the prognosis of STAT3 deficiency may be considered good, provided that multiple prophylactic measures, including IgG infusions, are implemented... - Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseasesJacinta Bustamante
Laboratory of Human Genetics of Infectious Diseases, Institut National de la Sante et de la Recherche Medicale, INSERM U550, Paris 75015, France, EU
Curr Opin Immunol 20:39-48. 2008.... - Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patientsMonia Ouederni
Pediatric Hematology Immunology Unit, Assistance Publique Hopitaux de Paris, Necker Hospital, France
Blood 118:5108-18. 2011..RFXANK deficiency is a severe, often fatal CID for which HSCT is the only curative treatment. However, some patients may survive for relatively long periods if multiple prophylactic measures are implemented... - Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-α mAbsDespina Moshous
Department of Pediatric Immunology and Hematology, Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, Paris, France
J Allergy Clin Immunol 128:847-53. 2011..Some patients also have defects in cell-mediated immunity and antibody production. Granulomatous inflammation has been described in patients with various forms of primary immunodeficiencies but has not been reported in patients with CHH... - Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunityAnne Puel
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale, U980, and University Paris Descartes, Necker Medical School, 75015 Paris, France
Science 332:65-8. 2011..These experiments of nature indicate that human IL-17A and IL-17F are essential for mucocutaneous immunity against C. albicans, but otherwise largely redundant... - Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?Anne Puel
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U980, University Paris Descartes, Necker Medical School, Paris, France, EU
Curr Opin Immunol 22:467-74. 2010..albicans. They also suggest that the distinct syndrome of isolated CMC, without auto-immunity or other infections, may be caused by inborn errors of IL-17 immunity... - Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type IAnne Puel
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Sante et de la Recherche Medicale INSERM, U550, 75015 Paris, France
J Exp Med 207:291-7. 2010..These findings suggest that auto-Abs against IL-17A, IL-17F, and IL-22 may cause CMC in patients with APS-I... - 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... - Inherited human IRAK-4 deficiency: an updateCapucine Picard
Centre d Etude des Déficits Immunitaires, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris, 75015, France, EU
Immunol Res 38:347-52. 2007..We briefly review inherited human IRAK-4 deficiency, a recently described primary immunodeficiency leading to recurrent, invasive, pyogenic bacteria infection, and invasive pneumococcal disease in particular... - Isolated congenital asplenia: a French nationwide retrospective survey of 20 casesNizar Mahlaoui
Pediatric Immunology Hematology Unit, Necker Enfants Malades Hospital, Assistance Publique Hopitaux de Paris, University Paris Descartes, Paris, France
J Pediatr 158:142-8, 148.e1. 2011..To better describe the natural history, mode of inheritance, and the epidemiological and clinical features of isolated congenital asplenia, a rare and poorly understood primary immunodeficiency... - Clinical features and outcome of patients with IRAK-4 and MyD88 deficiencyCapucine Picard
Study Center of Primary Immunodeficiencies, Assistance Publique Hopitaux de Paris, Paris, France
Medicine (Baltimore) 89:403-25. 2010..Prophylactic measures in childhood are beneficial, until spontaneous improvement occurs in adolescence... - Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiencyFabienne Mazerolles
Inserm U768, Paris, France University Sorbonne Paris Cité, and Pediatric Hematology and Immunology Unit, Necker Hospital, Paris, France
J Allergy Clin Immunol 131:1146-56, 1156.e1-5. 2013..Small numbers of nonactivated CD4+CD45RO+CXCR5+ T cells are also found in the blood... - Multicentric Castleman disease in an HHV8-infected child born to consanguineous parents with systematic reviewSandrine Leroy
Department of Pediatric Immunology and Hematology, Necker Hospital, AP HP, Paris, France
Pediatrics 129:e199-203. 2012..Moreover, as previously suggested for Kaposi sarcoma, MCD in childhood may result from inborn errors of immunity to HHV-8 infection... - Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunityYiqi Guo
1St Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA Laboratory of Human Genetics of Infectious Diseases, National Institute of Health and Medical Research, Paris, France Necker Medical School, Paris Descartes University, Paris 75015, France
J Exp Med 208:2083-98. 2011.... - Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunityCapucine Picard
Centre d Etude des Déficits Immunitaires, Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, EU, Paris, France
Eur J Immunol 39:1966-76. 2009..This report extends the phenotype spectrum of ZAP70 deficiency with a residual function of ZAP70... - 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.... - Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiencyMagda Dziembowska
INSERM U429, Institut National de la Santé et le Recherche Médicale, Hopital Necker, 119 rue de Serres, 75015 Paris, France
Immunogenetics 53:821-9. 2002..However, promoters III and IV were not affected. This last case represents the first described CIITA dysfunction due to putative mutation(s) in cis regulatory sequences of CIITA... - Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cellsLudovic de Beaucoudrey
Laboratory of Human Genetics of Infectious Diseases, U550, Institut National de la Sante et de la Recherche Medicale, 75015 Paris, France
J Exp Med 205:1543-50. 2008..These data suggest that IL-12Rbeta1- and STAT-3--dependent signals play a key role in the differentiation and/or expansion of human IL-17-producing T cell populations in vivo... - Rituximab therapy for childhood Evans syndromeBrigitte Bader-Meunier
Assistance Publique Hopitaux de Paris, Service d hématologie oncologie pédiatrique, Hopital Robert Debre, Paris, France
Haematologica 92:1691-4. 2007..4 years (range 0.5-7 years). Steroid therapy was stopped or tapered at 50-100% of the baseline dosage in all long-term responders. Moderate side effects and infection occurred only in 4 and 1 children respectively... - Somatic diversification in the absence of antigen-driven responses is the hallmark of the IgM+ IgD+ CD27+ B cell repertoire in infantsSandra Weller
Institut National de la Santé et de la Recherche Médicale U783, Développement du Système Immunitaire, Universite Paris Descartes, Faculte de Medecine, Site Necker Enfants Malades, Paris 75015, France
J Exp Med 205:1331-42. 2008..These data provide evidence for the developmental diversification of IgM(+)IgD(+)CD27(+) B cells, at least in very young children, outside of T cell-dependent and -independent immune responses... - Human monogenic disorders that confer predisposition to specific infectionsCapucine Picard
Laboratoire de Genetique Humaine des Maladies Infectieuses, Université de Paris René Descartes INSERM U550, Faculte de Medecine Necker, 156 rue de Vaugirard, 75015 Paris, France
Novartis Found Symp 281:65-73; discussion 73-8, 208-9. 2007..These 'experiments of nature' have important immunological and clinical implications... - IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal diseaseCheng Lung Ku
Laboratory of Human Genetics of Infectious Diseases, Necker Medical School, University of Paris Rene Descartes, Paris, France
J Med Genet 44:16-23. 2007..About 2% of childhood episodes of invasive pneumococcal disease (IPD) are recurrent, and most remain unexplained... - Inherited disorders of NF-kappaB-mediated immunity in manAnne Puel
, , , 75015 Paris, France
Curr Opin Immunol 16:34-41. 2004..The description of the infectious phenotypes associated with these genetic defects has initiated the forward genetic dissection of NF-kappaB-mediated immunity in man... - Pyogenic bacterial infections in humans with IRAK-4 deficiencyCapucine Picard
Laboratoire de Genetique Humaine des Maladies Infectieuses, Université René Descartes INSERM U550, Faculte Necker, 156 rue de Vaugirard, 75015 Paris, France
Science 299:2076-9. 2003..These findings suggest that, in humans, the TIR-IRAK signaling pathway is crucial for protective immunity against specific bacteria but is redundant against most other microorganisms... - Inherited disorders of human Toll-like receptor signaling: immunological implicationsCheng-Lung Ku
Laboratory of Human Genetics of Infectious Diseases, , INSERM U550, Necker Medical School, Paris, France
Immunol Rev 203:10-20. 2005..Paradoxically, these experiments of nature raise the possibility that the entire set of human TLRs is largely redundant in protective immunity in vivo... - NEMO mutations in 2 unrelated boys with severe infections and conical teethCheng-Lung Ku
Laboratory of Human Genetics of Infectious Diseases, , Necker Medical School, Paris, France
Pediatrics 115:e615-9. 2005..One child had isolated recurrent pneumococcal disease, whereas the other had multiple infections. Our observations indicate that conical incisors should prompt the search for NEMO mutations in boys with unusual infectious diseases... - Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical featuresOrchidée Filipe-Santos
Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes INSERM U 550, Necker Medical School, 75015 Paris, France, EU
Semin Immunol 18:347-61. 2006..We review here the molecular, cellular, and clinical features of patients with inborn errors of the IL-12/23-IFN-gamma circuit... - A fast procedure for the detection of defects in Toll-like receptor signalingHorst von Bernuth
Laboratory of Human Genetics of Infectious Diseases, University of Paris Rene Descartes, Institut National de la Santé et de la Recherche Médicale U550, Necker Medical School, Paris, France
Pediatrics 118:2498-503. 2006..We, therefore, aimed to develop a cheap and fast test for the detection of defects in Toll-like receptor signaling... - Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defenseShen Ying Zhang
Laboratory of Human Genetics of Infectious Diseases, Institut National de Santé et de Recherche Médicale, U550, Paris, France, EU
Immunol Rev 226:29-40. 2008..Future studies in humans aim to define the specific roles of IFN-alpha/beta and IFN-lambda types and individual molecules in host defense in natura...