Genomes and Genes
- [Possible long-term effect of in utero antiretroviral exposure?]S Blanche
Unité d Immunologie Hématologie Pédiatrique, Assistance Publique Hopitaux de Paris, Hopital Necker, 149, rue de Sevres, 75743 Paris Cedex 15, France
Arch Pediatr 14:610-1. 2007
- Pharmacokinetics, safety and efficacy of darunavir/ritonavir in treatment-experienced children and adolescentsStephane Blanche
Unité d Immunologie Hématologie Pédiatrique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, 149 rue de Sevres, Paris Cedex 15, France
AIDS 23:2005-13. 2009..To assess pharmacokinetics, safety and efficacy of darunavir/ritonavir (DRV/r) and optimized background regimen in treatment-experienced patients (6-17 years)...
- Mitochondrial dysfunction following perinatal exposure to nucleoside analoguesStephane Blanche
Unité d Immunologie Hématologie Pédiatrique, Hopital Necker Enfants Malades, Assistance Subligne Hopitaux de Paris et EA 3620 Université Paris 5, 149 rue de Sevres, 75015 Paris, France
AIDS 20:1685-90. 2006
- Poor recognition of HIV-1 Nef protein by CD8 T cells from HIV-1-infected children: impact of ageFlorence Buseyne
Unite Postulante d Immunopathologie Virale, URA CNRS 1930, Institut Pasteur, Bat Lwoff, 28 rue du Dr Roux, 75015 Paris, France
Virology 354:271-9. 2006..The poor Nef-specific CD8 T cell response in HIV-infected children contrasts with dominance of Nef-specific responses in infected adults...
- [Chronic granulomatous disease: pathogenesis and therapy of associated fungal infections]ANNE DESJARDINS
Service de Maladies Infectieuses et Tropicales, Hopital Necker Enfants Malades, Paris, France
Med Sci (Paris) 28:963-9. 2012..Here we review the genetic basis, pathogenesis and clinical presentation associated with fungal infections in chronic granulomatous disease as well as the current prophylaxis and newly available therapies...
- Prevalence and clinical impact of norovirus fecal shedding in children with inherited immune deficienciesPierre Frange
Unite d immunologie, Hématologie et Rhumatologie pédiatriques, AP HP, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
J Infect Dis 206:1269-74. 2012..1% of fecal samples were still positive after a median of 9.5-months follow-up. Further large longitudinal studies are needed to evaluate the clinical consequences of norovirus shedding in patients with primary immunodeficiencies...
- Invasive mold infections in chronic granulomatous disease: a 25-year retrospective surveySophie Blumental
Immunology and Haematology Unit, Hopital Necker Enfants Malades, Paris, France
Clin Infect Dis 53:e159-69. 2011..This study offers a descriptive review of invasive mold infection (mIFI) in children with CGD over an extended period of time...
- Lopinavir/ritonavir-based antiretroviral therapy in human immunodeficiency virus type 1-infected naive children: rare protease inhibitor resistance mutations but high lamivudine/emtricitabine resistance at the time of virologic failurePierre Frange
Unite d immunologie, Hématologie et Rhumatologie pédiatriques, Assistance Publique Hopitaux de Paris, Hopital Necker, Paris, France
Pediatr Infect Dis J 30:684-8. 2011..Lopinavir/ritonavir (LPV/r) is now the protease inhibitor regimen of choice in the first-line antiretroviral therapy for children <6 years of age...
- A vaccinia-based elispot assay for detection of CD8+ T cells from HIV-1 infected childrenFlorence Buseyne
Unite Postulante d Immunopathologie Virale, URA CNRS 1930, Institut Pasteur, Bat Lwoff, 28 rue du Dr Roux, 75015 Paris, France
J Immunol Methods 298:105-18. 2005....
- In HIV type 1-infected children cytotoxic T lymphocyte responses are associated with greater reduction of viremia under antiretroviral therapyFlorence Buseyne
Unite Postulante d Immunopathologie Virale, URA CNRS 1930, Institut Pasteur, Bat Lwoff, 75015 Paris, France
AIDS Res Hum Retroviruses 21:719-27. 2005..This result adds further support to the hypothesis that cooperation between the antiviral immune response and antiviral drugs could be helpful for therapeutic management of HIV-infected patients...
- LTR real-time PCR for HIV-1 DNA quantitation in blood cells for early diagnosis in infants born to seropositive mothers treated in HAART area (ANRS CO 01)Véronique Avettand-Fenoel
Assistance Publique Hopitaux de Paris, CHU Necker Enfants Malades, Service de Virologie, Paris, France
J Med Virol 81:217-23. 2009..The results were equivalent to those of HIV-RNA assay. HIV-DNA may be used even in masked primary infection in newborns whose mothers have received HAART...
- 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...
- Therapeutic drug monitoring of voriconazole after intravenous administration in infants and children with primary immunodeficiencyMagdalena Gerin
Universite Paris Descartes, Assistance Publique Hopitaux de Paris, Paris, France
Ther Drug Monit 33:464-6. 2011..The aim of this work was to describe the probability of not achieving this target concentration in infants and children receiving intravenous voriconazole...
- Association of prenatal and postnatal exposure to lopinavir-ritonavir and adrenal dysfunction among uninfected infants of HIV-infected mothersAlbane Simon
Unité d Endocrinologie Pédiatrique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France
JAMA 306:70-8. 2011..A warning about its tolerance in premature newborns was recently released, and transient elevation of 17-hydroxyprogesterone (17OHP) was noted in 2 newborns treated with lopinavir-ritonavir in France...
- Late postnatal HIV infection in children born to HIV-1-infected mothers in a high-income countryPierre Frange
Unite d immunologie, Hématologie et Rhumatologie pédiatriques, Hopital Necker, Paris, France
AIDS 24:1771-6. 2010..To evaluate the risk of late postnatal HIV-1 infection in nonbreastfed children enrolled in the French ANRS Cohort CO01 (EPF)...
- CCR5 antagonists: a therapeutic option in HIV-1 perinatally infected children experiencing virologic failure?Pierre Frange
Université Paris Descartes EA 3620, Sorbonne Paris Cité, Paris, France
AIDS 26:1673-7. 2012..HIV-1 coreceptor usage was determined in HAART-failing children followed in Necker Hospital (Paris, France) in order to estimate the proportion of these patients who may benefit from CCR5-antagonists therapy...
- Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemiaRomain Micol
CEREDIH network French National Reference Center for Primary Immunodeficiencies, Hopital Necker Enfants Malades, AP HP, Paris, France
J Allergy Clin Immunol 129:770-7. 2012..It is not known whether patients able to secrete IgM (eg, those with hyper-IgM [HIgM] syndrome) are as susceptible to these infections as patients who lack IgM production (eg, those with panhypogammaglobulinemia [PHG])...
- Performance of HIV-1 DNA or HIV-1 RNA tests for early diagnosis of perinatal HIV-1 infection during anti-retroviral prophylaxisMarianne Burgard
Laboratoire de Virologie, Hopital Necker, AP HP, Paris, France
J Pediatr 160:60-6.e1. 2012..To compare performance of testing for human immunodeficiency virus (HIV)-1 DNA and HIV-1 RNA for diagnosis of HIV-1 infection in infants receiving preventive antiretroviral therapy...
- Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiencyFabian Hauck
Inserm 768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Hopital Necker Enfants Malades, Paris, France
J Allergy Clin Immunol 130:1144-1152.e11. 2012..The T lymphocyte-specific protein tyrosine kinase (Lck) is a key component of the TCR signaling machinery. On the basis of its function, we considered LCK a candidate gene in patients with combined immunodeficiency...
- 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...
- Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosisJerome Feldmann
Unité de Recherche sur le Développement Normal et Pathologique du Système Immunitaire, INSERM U429, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
Br J Haematol 117:965-72. 2002..Altogether, these data enabled a better characterization of perforin deficiency and its consequences, and defined reliable diagnostic tools...
- 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....
- Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in FranceJulien Beauté
Centre de Référence Déficits Immunitaires Héréditaires, Hopital Necker Enfants Malades, AP HP, Paris, France
Pediatr Infect Dis J 30:57-62. 2011..This study is aimed at assessing the incidence, prevalence, and outcome of IFDs among CGD patients followed in France...
- 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...
- Predictive factors of virologic success in HIV-1-infected children treated with lopinavir/ritonavirConstance Delaugerre
Service de Virologie EA 3620, Hopital Necker Enfants Malades, Paris, France
J Acquir Immune Defic Syndr 37:1269-75. 2004..In pretreated children, LPV plasma levels should be optimized in an attempt to achieve sufficient drug concentrations to overcome the resistance level...
- 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...
- Influence of development, HIV infection, and antiretroviral therapies on the gene expression profiles of ABC transporters in human lymphocytesCarole Giraud
Centre de Recherche Clinique Paris Descartes, Groupe Hospitalier Cochin Saint Vincent De Paul, Assistance Publique Hopitaux de Paris, Site Hôpital Tarnier, 75006 Paris, France
J Clin Pharmacol 50:226-30. 2010..Neither HIV infection nor antiretroviral therapies modulated the gene expression profiles of ABC transporters. In conclusion, drugs that are substrates of BCRP and MRP4, like zidovudine, may have an altered efficacy in newborns...
- Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)Jana Pachlopnik Schmid
INSERM Unité 768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Hopital Necker Enfants Malades, Paris, France
Blood 117:1522-9. 2011..This first phenotypic comparison of XLP subtypes should help to improve the diagnosis and the care of patients with XLP conditions...
- Cutaneous hematologic disorders in childrenOlivia Boccara
Department of Pathology, Hopital Necker Enfants Malades, AP HP, Universite Rene Descartes, Paris V, France
Pediatr Blood Cancer 58:226-32. 2012..To determine and list the clinical and pathological features of cutaneous hematologic diseases in childhood...
- 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...
- Primary cutaneous Epstein-Barr virus-related lymphoproliferative disorders in 4 immunosuppressed childrenNadège Wallet-Faber
Department of Pathology, Groupe Hospitalier Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Universite Paris Descartes, Paris, France
J Am Acad Dermatol 58:74-80. 2008..The two T-cell types were also Epstein-Barr virus positive, which is extremely rare. Three of the patients developed extracutaneous disease with poor outcome, resulting in death...
- Adenoviral infection presenting as an isolated central nervous system disease without detectable viremia in two children after stem cell transplantationPierre Frange
Unite d immunologie, Hématologie et Rhumatologie pédiatriques, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
J Clin Microbiol 49:2361-4. 2011....
- Frequencies of ex vivo-activated human immunodeficiency virus type 1-specific gamma-interferon-producing CD8+ T cells in infected children correlate positively with plasma viral loadFlorence Buseyne
Laboratoire d Immunopathologie Virale, Département de Médecine Moléculaire, URA CNRS 1930, Institut Pasteur, 28 rue du Dr Roux, 75015 Paris, France
J Virol 76:12414-22. 2002..In conclusion, our results show that the ex vivo-activated IFN-gamma-producing HIV-specific CD8+ T-cell subset is dependent upon continuous antigenic stimulation...
- Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndromeMarc Tardieu
Service de Neurologie, Département de Pédiatrie et Laboratoire de Neuropathologie, Hopital Bicetre, Assistance Publique Hopitaux de Paris, Paris, France
Blood 106:40-2. 2005..We also reviewed the very long-term outcome of the other 11 patients with Chediak-Higashi syndrome who had received bone marrow transplants at our center since 1981. All displayed neurologic deficits or low cognitive abilities...
- Children's views on their involvement in clinical researchHelene Chappuy
Département d Urgences Pédiatriques, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris et Laboratoire d Ethique Médicale Université René Descartes Paris, France
Pediatr Blood Cancer 50:1043-6. 2008..To examine the level of children's understanding of informed consent in clinical trials and factors that may influence these processes...
- 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...
- Monitoring cytomegalovirus infection in adult and pediatric bone marrow transplant recipients by a real-time PCR assay performed with blood plasmaMarianne Leruez-Ville
Laboratoire de Virologie, CHU Necker Enfants Malades, 75015 Paris, France
J Clin Microbiol 41:2040-6. 2003....
- Kaposi's sarcoma in a child with Wiskott-Aldrich syndromeCapucine Picard
Unité d Immunologie et d Hématologie Pédiatriques AP HP, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015, Paris, EU, France
Eur J Pediatr 165:453-7. 2006..Kaposi's sarcoma (KS) is rare in childhood. It may be favored by acquired immune deficiencies, but the predisposing factors to KS in other children are unclear...
- Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)David Genevieve
Département de génétique, Unité INSERM U781, Universite Paris Descartes, Assistance Publique Hopitaux de Paris AP HP, Hopital Necker Enfants Malades, 149, rue de Sevres, 75015 Paris, France
Nat Genet 40:284-6. 2008..We also found that TXAS and TXA(2) modulated expression of TNFSF11 and TNFRSF11B (encoding RANKL and osteoprotegerin (OPG), respectively) in primary cultured osteoblasts...