Genomes and Genes
- Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndromeF Rieux-Laucat
Unité INSERM 429, Hopital Necker Enfants Malades, 75743 Paris, Cedex 15, France
J Clin Invest 102:312-21. 1998..These results suggest that the oligoclonal expansion of T cells observed in Omenn's syndrome could be the consequence of autoimmune proliferation generated by a profound defect in lymphocyte development...
- Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestationsF Rieux-Laucat
Department of Pediatric Immunology, Unit INSERM U429, Hopital Necker Enfants Malades, Paris, France
Blood 94:2575-82. 1999..This observation suggests that Fas-mediated apoptosis plays a more important role in lymphocyte homeostasis in early childhood than later on in life...
- Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathwaysF Rieux-Laucat
Hôpital Necker INSERM U429, Paris, France
Cell Death Differ 10:124-33. 2003..This review will discuss the main findings provided by the study of mouse models and human conditions...
- Cell-death signaling and human diseaseFrederic Rieux-Laucat
Institut National de la Santé et de la Recherche Médicale U429, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
Curr Opin Immunol 15:325-31. 2003....
- [Autoimmune lymphoproliferative syndrome: an inherited or a somatic defect of apoptosis]Frederic Rieux-Laucat
Inserm U768, Universite Paris V, Hopital Necker, 149, rue de Sevres, 75015 Paris, France
Med Sci (Paris) 22:645-50. 2006..These findings might have important implications in deciphering the pathophysiological bases of other autoimmune diseases...
- Inherited and acquired death receptor defects in human Autoimmune Lymphoproliferative SyndromeFrederic Rieux-Laucat
Unité INSERM 429, Universite Paris V, Hopital Necker Enfants Malades, Paris, France
Curr Dir Autoimmun 9:18-36. 2006..Consequences of this finding will be discussed in terms of functional and molecular diagnosis as well as in the understanding of the pathophysiological basis of ALPS...
- Inherited and somatic CD3zeta mutations in a patient with T-cell deficiencyFrederic Rieux-Laucat
INSERM Unité 768, Hopital Necker, Paris, France
N Engl J Med 354:1913-21. 2006....
- Autoimmune lymphoproliferative syndrome with somatic Fas mutationsEliska Holzelova
INSERM Unité 429, Hopital Necker Enfants Malades, Paris
N Engl J Med 351:1409-18. 2004..We studied six children with ALPS whose lymphocytes had normal sensitivity to Fas-induced apoptosis in vitro...
- Human TCR alpha/beta+ CD4-CD8- double-negative T cells in patients with autoimmune lymphoproliferative syndrome express restricted Vbeta TCR diversity and are clonally related to CD8+ T cellsAnne Bristeau-Leprince
Antiviral Immunity, Biotherapy and Vaccine Unit, Infection and Epidemiology Department, Institut Pasteur, Paris, France
J Immunol 181:440-8. 2008..CDR3 sequencing of matching clonotypes revealed a significant sharing of CDR3 sequences from selected Vbeta-Jbeta transcripts between DN and CD8+ T cells. Altogether, these data strongly argue for a CD8 origin of DN T cells in ALPS...
- Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytesVéronique Mateo
INSERM, U768, Paris, France
Blood 110:4285-92. 2007..Furthermore, they identified a novel AICD pathway as a unique alternative to Fas apoptosis in human peripheral T lymphocytes...
- Differential sensitivity of Jurkat and primary T cells to caspase-independent cell death triggered upon Fas stimulationCedric Vonarbourg
INSERM U429, Developpement Normal et Pathologique du Systeme Immunitaire, Hopital Necker Enfants Malades, Paris, France
Eur J Immunol 32:2376-84. 2002..Indeed, in this setting, Fas-induced cell death was always substantially inhibited by Z-VAD-fmk, suggesting that caspase activation is an absolute requirement in the Fas-induced death of primary human T lymphocytes...
- Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutationFabian Hauck
Inserm U768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Hopital Necker Enfants Malades, Paris, France
Clin Immunol 147:61-8. 2013..FAS surface expression on DN T cells should be assessed routinely and FAS haploinsufficient patients should be followed as its potential for lymphomagenesis is not well defined and a second hit might occur later on...
- 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...
- Efficacy of gene therapy for X-linked severe combined immunodeficiencySalima Hacein-Bey-Abina
Department of Biotherapy, Necker Enfants Malades Hospital, Paris, France
N Engl J Med 363:355-64. 2010..We reviewed long-term outcomes after gene therapy in nine patients with X-linked severe combined immunodeficiency (SCID-X1), which is characterized by the absence of the cytokine receptor common gamma chain...
- Defective IL10 signaling defining a subgroup of patients with inflammatory bowel diseaseBernadette Begue
INSERM U989, Paris, France
Am J Gastroenterol 106:1544-55. 2011..Thus, we aimed to further elaborate the hypothesis of defective anti-inflammatory responses in patients with IBD...
- STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunityCapucine Picard
Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, Paris
N Engl J Med 360:1971-80. 2009..Two of these patients have a homozygous nonsense mutation in STIM1 that abrogates expression of STIM1 and Ca(2+) influx...
- 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...
- 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...
- 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...
- 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...
- 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...
- Digestive histopathological presentation of IPEX syndromeNatacha Patey-Mariaud de Serre
Department of Pathology, Necker Enfants Malades, Universite Rene Descartes Paris V, tumorothèque, Paris, France
Mod Pathol 22:95-102. 2009....
- 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...
- MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survivalNadine T Nehme
Inserm U768, Paris, France
Blood 119:3458-68. 2012..Our results characterize a new mechanism in primary T-cell immunodeficiencies and highlight a role of the MST1/FOXO1 pathway in controlling the death of human naive T cells...
- XIAP deficiency in humans causes an X-linked lymphoproliferative syndromeStéphanie Rigaud
Inserm 768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Univ René Descartes, Paris, F 75015, France
Nature 444:110-4. 2006..Furthermore, by identifying an XLP immunodeficiency that is caused by mutations in XIAP, we show that XIAP is a potent regulator of lymphocyte homeostasis in vivo...
- Accessory spleen: differential diagnosis for lymphoma in autoimmune lymphoproliferative syndromeSophie Georgin-Lavialle
Department of Adult Hematology, Hopital Necker, Universite Paris Descartes, Faculte de Medecine, Assistance Publique Hopitaux de Paris, Paris, France
Pediatr Blood Cancer 54:1020-2. 2010..This observation highlights the lymphoma's differential diagnosis in this context...
- Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndromeFrank M Ruemmele
AP HP, Hopital Necker Enfants Malades, Department of Pediatrics, Pediatric Gastroenterology Unit, France
Curr Opin Gastroenterol 24:742-8. 2008..Recent research data allowed us to gain a first insight in the pathogenesis of AIE. On the basis of this data, we will discuss new aspects of AIE emphasizing new diagnostic and therapeutic possibilities...
- Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicityChantal Lagresle-Peyrou
Universite Paris Descartes, Faculte de Medecine, INSERM Unit 429, Site Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex15, France
Blood 107:63-72. 2006....
- Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafnessChantal Lagresle-Peyrou
Research Laboratory on Normal and Pathologic Development of the Immune System, U768, Institut National de la Sante et de la Recherche Medicale, 75015 Paris, France
Nat Genet 41:106-11. 2009..These results identify a previously unknown mechanism involved in regulation of hematopoietic cell differentiation and in one of the most severe human immunodeficiency syndromes...