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11 results on '"Heurtier, Lucie"'

1. Loss of ARHGEF1 causes a human primary antibody deficiency

Author

Bouafia, Amine, Lofek, Sebastien, Bruneau, Julie, Chentou, Loic, Lamrini, Hicham, Trinquand, Amelie, Deau, Marie-Celine, Heurtier, Lucie, Meignin, Veronique, Picard, Capucine, Macintyre, Elizabeth, Alibeu, Olivier, Bras, Marc, Molina, Thierry Jo, Cavazzana, Marina, Andre-Schmutz, Isabelle, Durandy, Anne, Fischer, Alain, Oksenhendler, Eric, and Kracker, Sven

Subjects
Nucleotides -- Research, Exome sequencing -- Usage, Respiratory tract infections -- Risk factors, Lymphocytes -- Research, Phosphorylation -- Research, Immunodeficiency -- Genetic aspects -- Causes of, Respiratory tract diseases, Actin, Purines, Guanine, Bronchiectasis, Recurrence (Disease), Infection, B cells, Muscle proteins, Antibodies, Polymerization, Health care industry
Abstract

ARHGEF1 is a RhoA-specific guanine nucleotide exchange factor expressed in hematopoietic cells. We used whole-exome sequencing to identify compound heterozygous mutations in ARHGEF1, resulting in the loss of ARHGEF1 protein expression in 2 primary antibody-deficient siblings presenting with recurrent severe respiratory tract infections and bronchiectasis. Both ARHGEF1-deficient patients showed an abnormal B cell immunophenotype, with a deficiency in marginal zone and memory B cells and an increased frequency of transitional B cells. Furthermore, the patients' blood contained immature myeloid cells. Analysis of a mediastinal lymph node from one patient highlighted the small size of the germinal centers and an abnormally high plasma cell content. On the molecular level, T and B lymphocytes from both patients displayed low RhoA activity and low steady-state actin polymerization (even after stimulation of lysophospholipid receptors). As a consequence of disturbed regulation of the RhoA downstream target Rho-associated kinase I/II (ROCK), the patients' lymphocytes failed to efficiently restrain AKT phosphorylation. Enforced ARHGEF1 expression or drug-induced activation of RhoA in the patients' cells corrected the impaired actin polymerization and AKT regulation. Our results indicate that ARHGEF1 activity in human lymphocytes is involved in controlling actin cytoskeleton dynamics, restraining PI3K/AKT signaling, and confining B lymphocytes and myelocytes within their dedicated functional environment., Introduction ARHGEF1 (also known as GEF1, P115-RHOGEF, and LSC) belongs to the dbl-homology guanine nucleotide exchange factor family (1-3) of proteins that activate monomeric GTPases by stimulating the release of [...]

Published
2019
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2. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

Author

Elkaim, Elodie, Neven, Benedicte, Bruneau, Julie, Mitsui-Sekinaka, Kanako, Stanislas, Aurelie, Heurtier, Lucie, Lucas, Carrie L., Matthews, Helen, Deau, Marie-Céline, Sharapova, Svetlana, Curtis, James, Reichenbach, Janine, Glastre, Catherine, Parry, David A., Arumugakani, Gururaj, McDermott, Elizabeth, Kilic, Sara Sebnem, Yamashita, Motoi, Moshous, Despina, Lamrini, Hicham, Otremba, Burkhard, Gennery, Andrew, Coulter, Tanya, Quinti, Isabella, Stephan, Jean-Louis, Lougaris, Vassilios, Brodszki, Nicholas, Barlogis, Vincent, Asano, Takaki, Galicier, Lionel, Boutboul, David, Nonoyama, Shigeaki, Cant, Andrew, Imai, Kohsuke, Picard, Capucine, Nejentsev, Sergey, Molina, Thierry Jo, Lenardo, Michael, Savic, Sinisa, Cavazzana, Marina, Fischer, Alain, Durandy, Anne, and Kracker, Sven

Published
2016
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3. A human immunodeficiency caused by mutations in the PIK3R1 gene

Author

Deau, Marie-Celine, Heurtier, Lucie, Frange, Pierre, Suarez, Felipe, Bole-Feysot, Christine, Nitschke, Patrick, Cavazzana, Marina, Picard, Capucine, Durandy, Anne, Fischer, Alain, and Kracker, Sven

Subjects
Gene mutations -- Research, T cells -- Physiological aspects -- Research, Immunodeficiency -- Genetic aspects -- Health aspects -- Research -- Patient outcomes -- Development and progression, Health care industry
Abstract

Recently, patient mutations that activate PI3K signaling have been linked to a primary antibody deficiency. Here, we used whole-exome sequencing and characterized the molecular defects in 4 patients from 3 unrelated families diagnosed with hypogammaglobulinemia and recurrent infections. We identified 2 different heterozygous splice site mutations that affect the same splice site in PIK3R1, which encodes the p85α subunit of PI3K. The resulting deletion of exon 10 produced a shortened p85a protein that lacks part of the PI3K p110-binding domain. The hypothetical loss of p85α-mediated inhibition of p110 activity was supported by elevated phosphorylation of the known downstream signaling kinase AKT in patient T cell blasts. Analysis of patient blood revealed that naive T and memory B cell counts were low, and T cell blasts displayed enhanced activation-induced cell death, which was corrected by addition of the PI3Kδ inhibitor IC87114. Furthermore, B lymphocytes proliferated weakly in response to activation via the B cell receptor and TLR9, indicating a B cell defect. The phenotype exhibited by patients carrying the PIK3R1 splice site mutation is similar to that of patients carrying gain-of-function mutations in PIK3CD. Our results suggest that PI3K activity is tightly regulated in T and B lymphocytes and that various defects in the PI3K-triggered pathway can cause primary immunodeficiencies., Introduction It was shown recently that some primary antibody deficiencies are caused by hyperactivation of the PI3K signaling pathway, as gain-of-function mutations in PIK3CD encoding for the p110δ subunit result [...]

Published
2014
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5. Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1)

Author

Heurtier, Lucie, Lamrini, Hicham, Chentout, Loïc, Deau, Marie-Céline, Bouafia, Amine, Rosain, Jeremie, Plaza, Jean-Marc, Parisot, Mélanie, Dumont, Benoit, Turpin, Delphine, Merlin, Etienne, Moshous, Despina, Aladjidi, Nathalie, Neven, Bénédicte, Picard, Capucine, Cavazzana, Marina, Fischer, Alain, Durandy, Anne, Stephan, Jean-Louis, Kracker, Sven, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Center for the Study of Primary Immunodeficiencies [Paris], Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Nord (Saint Etienne), CHU Bordeaux [Bordeaux], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), Kracker, Sven, and Collège de France - Chaire Médecine expérimentale (A. Fischer)

Subjects
[SDV] Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.IMM] Life Sciences [q-bio]/Immunology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV]Life Sciences [q-bio], [SDV.IMM]Life Sciences [q-bio]/Immunology, [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Online Only Articles, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2017
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6. Clinical and immunologic phenotype associated with activated ă phosphoinositide 3-kinase delta syndrome 2: A cohort study

Author

Elkaim, Elodie, Neven, Bénédicte, Bruneau, Julie, Mitsui-Sekinaka, Kanako, Stanislas, Aurelie, Heurtier, Lucie, Lucas, Carrie L., Matthews, Helen, Deau, Marie-Celine, Sharapova, Svetlana, Curtis, James, Reichenbach, Janine, Glastre, Catherine, Parry, David A., Arumugakani, Gururaj, McDermott, Elizabeth, Kilic, Sara Sebnem, Yamashita, Motoi, Moshous, Despina, Lamrini, Hicham, Otremba, Burkhard, Gennery, Andrew, Coulter, Tanya, Quinti, Isabella, Stephan, Jean-Louis, Lougaris, Vassilios, Brodszki, Nicholas, Barlogis, Vincent, Asano, Takaki, Galicier, Lionel, Boutboul, David, Nonoyama, Shigeaki, Cant, Andrew, Imai, Kohsuke, Picard, Capucine, Nejentsev, Sergey, Molina, Thierry Jo, Lenardo, Michael, Savic, Sinisa, Cavazzana, Marina, Fischer, Alain, Durandy, Anne, Kracker, Sven, Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'immuno-hématologie pédiatrique [CHU Necker], Département de Pathologie [CHU Necker], Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-CHU Necker - Enfants Malades [AP-HP], Depat of Gastroenterology, St George's Hospital, Génétique Humaine des Maladies Infectieuses (Inserm U980), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Department of Pediatrics, Newcastle General Hospital, CHU Saint-Etienne, Pédiatrie et oncologie pédiatrique [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'immunologie clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), CHU Saint-Antoine [APHP], Université Paris Diderot - Paris 7 (UPD7), Service d'Immunopathologie [Hôpital Saint-Louis, Paris], Université Paris Diderot - Paris 7 (UPD7)-CHU Saint Louis [APHP], AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Laboratory of Immunology, National Institutes of Health (NIH)-National Institutes of Allergy and Infectious Diseases, Collège de France (CdF), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris Diderot - Paris 7 (UPD7)-Hopital Saint-Louis [AP-HP] (AP-HP), Collège de France - Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), Chaire Médecine expérimentale (A. Fischer), Centre de Référence Déficits Immunitaires Héréditaires ( CEREDIH ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Université Sorbonne Paris Cité ( USPC ) -CHU Necker - Enfants Malades [AP-HP], Génétique Humaine des Maladies Infectieuses ( Inserm U980 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Centre de Référence des microangiopathies thrombotiques ( CNR-MAT ), service d'hématologie-CHU Saint-Antoine [APHP], Université Paris Diderot - Paris 7 ( UPD7 ), Université Paris Diderot - Paris 7 ( UPD7 ) -CHU Saint Louis [APHP], and Collège de France ( CdF )

Subjects
[ SHS.PSY ] Humanities and Social Sciences/Psychology, quality, [ SDV.MHEP.PSM ] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [ SHS.ECO ] Humanities and Social Sciences/Economies and finances, [SHS.PSY]Humanities and Social Sciences/Psychology, [ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SHS.ECO]Humanities and Social Sciences/Economics and Finance
Abstract

International audience; Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) 2 ă (p110 delta-activating mutations causing senescent T cells, ă lymphadenopathy, and immunodeficiency [PASLI]-R1), a recently ă described primary immunodeficiency, results from autosomal dominant ă mutations in PIK3R1, the gene encoding the regulatory subunit (p85 ă alpha, p55 alpha, and p50 alpha) of class IA phosphoinositide 3-kinases. ă Objectives: We sought to review the clinical, immunologic, and ă histopathologic phenotypes of APDS2 in a genetically defined ă international patient cohort. ă Methods: The medical and biological records of 36 patients with ă genetically diagnosed APDS2 were collected and reviewed. ă Results: Mutations within splice acceptor and donor sites of exon 11 of ă the PIK3R1 gene lead to APDS2. Recurrent upper respiratory tract ă infections (100%), pneumonitis (71%), and chronic lymphoproliferation ă (89%, including adenopathy [75%], splenomegaly [43%], and upper ă respiratory tract lymphoid hyperplasia [48%]) were the most common ă features. Growth retardation was frequently noticed (45%). Other ă complications were mild neurodevelopmental delay (31%); malignant ă diseases (28%), most of them being B-cell lymphomas; autoimmunity ă (17%); bronchiectasis (18%); and chronic diarrhea (24%). Decreased ă serum IgA and IgG levels (87%), increased IgM levels (58%), B-cell ă lymphopenia (88%) associated with an increased frequency of ă transitional B cells (93%), and decreased numbers of naive CD4 and ă naive CD8 cells but increased numbers of CD8 effector/memory T cells ă were predominant immunologic features. The majority of patients (89%) ă received immunoglobulin replacement; 3 patients were treated with ă rituximab, and 6 were treated with rapamycin initiated after diagnosis ă of APDS2. Five patients died from APDS2-related complications. ă Conclusion: APDS2 is a combined immunodeficiency with a variable ă clinical phenotype. Complications are frequent, such as severe bacterial ă and viral infections, lymphoproliferation, and lymphoma similar to ă APDS1/PASLI-CD. Immunoglobulin replacement therapy, rapamycin, and, ă likely in the near future, selective phosphoinositide 3-kinase delta ă inhibitors are possible treatment options.

Published
2016
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7. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase delta syndrome 2: A cohort study

Author

Elkaim, Elodie, Neven, Benedicte, Bruneau, Julie, Mitsui-Sekinaka, Kanako, Stanislas, Aurelie, Heurtier, Lucie, Lucas, Carrie L., Matthews, Helen, Deau, Marie-Celine, Sharapova, Svetlana, Curtis, James, Reichenbach, Janine, Glastre, Catherine, Parry, David A., Arumugakani, Gururaj, McDermott, Elizabeth, Yamashita, Motoi, Moshous, Despina, Lamrini, Hicham, Otremba, Burkhard, Gennery, Andrew, Coulter, Tanya, Quinti, Isabella, Stephan, Jean-Louis, Lougaris, Vassilios, Brodszki, Nicholas, Barlogis, Vincent, Asano, Takaki, Galicier, Lionel, Boutboul, David, Nonoyama, Shigeaki, Cant, Andrew, Imai, Kohsuke, Picard, Capucine, Nejentsev, Sergey, Molina, Thierry Jo, Lenardo, Michael, Savic, Sinisa, Cavazzana, Marina, Fischer, Alain, Durandy, Anne, Kracker, Sven, Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk İmmünoloji Bilim Dalı., Kılıç, Sara Şebnem, and AAH-1658-2021

Subjects
Male, Kinase, Lymphoid hyperplasia, And immunodeficiency, Lymphadenopathy, Genomic DNA, Autoimmunity, Azithromycin, Immunoglobulin blood level, Azathioprine, T-lymphocyte subsets, CD8+ T lymphocyte, Child, Phosphatidylinositol 3 kinase inhibitor, Primary immunodeficiency, T lymphocyte subpopulation, CD8 antigen, Immunologic deficiency syndromes, Amino acid, Phosphatidylinositol 3 kinase gamma, Bronchiectasis, Adenopathy, Cohort studies, P110 delta, Cohort analysis, CD4 antigen, Rituximab, Human, Activated PI3K-delta Syndrome, Hyper Igm Syndrome, Immune Deficiency, Genotype, Treosulfan, P85 alpha, Cells, Clinical article, Immunology, Autosomal dominant inheritance, Article, Disease association, Donor site, Genetics, Immunodeficiency, Humans, Antibody deficiency, Autoimmune hemolytic anemia, Steroid, Alleles, RNA splice sites, Infant, Upper respiratory tract infection, Pneumonia, Growth retardation, Gene frequency, Cotrimoxazole, B cell lymphoma, Methotrexate, Mutation, Cytopenia, Splenomegaly, Allergy, Biopsy, Immune deficiency, Phosphoinositide 3-kinase, Fludarabine, Pre B lymphocyte, Lymphocyte proliferation, Activated phosphoinositide 3 kinase gamma syndrome 2, Class I phosphatidylinositol 3-kinases, Human immunodeficiency, P110 delta-activating mutations causing senescent T cells, Middle aged, Memory T lymphocyte, Alemtuzumab, Priority journal, Allele, Mycophenolate mofetil, Gastrointestinal disease, Phenotype, Activated phosphoinositide 3-kinase delta syndrome, CD8-positive T-lymphocytes, Female, Nucleotide, Mutations, Adult, Adolescent, Child, preschool, Developmental disorder, Exon, Histopathology, Phenotypic variation, Immunoglobulin, Rapamycin, Gene mutation, Human tissue, Mortality, Chronic diarrhea, RNA splice site, Phosphatidylinositol 4,5 bisphosphate 3 kinase, Lymphocytopenia, Infectious complication, Infliximab, Immunoglobulin A, Immune dysregulation, Young adult, Malignant neoplastic disease, Metabolism, Immunoglobulin M, Clinical feature, Preschool child, Hyper-IgM, Immunoglobulin G, Genetic association, Controlled study
Abstract

Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) 2 (p110 delta-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI]-R1), a recently described primary immunodeficiency, results from autosomal dominant mutations in PIK3R1, the gene encoding the regulatory subunit (p85 alpha, p55 alpha, and p50 alpha) of class IA phosphoinositide 3-kinases. Objectives: We sought to review the clinical, immunologic, and histopathologic phenotypes of APDS2 in a genetically defined international patient cohort. Methods: The medical and biological records of 36 patients with genetically diagnosed APDS2 were collected and reviewed. Results: Mutations within splice acceptor and donor sites of exon 11 of the PIK3R1 gene lead to APDS2. Recurrent upper respiratory tract infections (100%), pneumonitis (71%), and chronic lymphoproliferation (89%, including adenopathy [75%], splenomegaly [43%], and upper respiratory tract lymphoid hyperplasia [48%]) were the most common features. Growth retardation was frequently noticed (45%). Other complications were mild neurodevelopmental delay (31%); malignant diseases (28%), most of them being B-cell lymphomas; autoimmunity (17%); bronchiectasis (18%); and chronic diarrhea (24%). Decreased serum IgA and IgG levels (87%), increased IgM levels (58%), B-cell lymphopenia (88%) associated with an increased frequency of transitional B cells (93%), and decreased numbers of naive CD4 and naive CD8 cells but increased numbers of CD8 effector/memory T cells were predominant immunologic features. The majority of patients (89%) received immunoglobulin replacement; 3 patients were treated with rituximab, and 6 were treated with rapamycin initiated after diagnosis of APDS2. Five patients died from APDS2-related complications. Conclusion: APDS2 is a combined immunodeficiency with a variable clinical phenotype. Complications are frequent, such as severe bacterial and viral infections, lymphoproliferation, and lymphoma similar to APDS1/PASLI-CD. Immunoglobulin replacement therapy, rapamycin, and, likely in the near future, selective phosphoinositide 3-kinase delta inhibitors are possible treatment options. European Union's 7th RTD Framework Programme (ERC advanced grant PID-IMMUNE) - 249816 French National Research Agency (ANR) - ANR-10-IAHU-01 Centre de Reference Deficits Immunitaires Hereditaires (CEREDIH) French National Research Agency (ANR)-European Commission - ANR-15-CE15-0020 Gebert Ruf Stiftung program "Rare Diseases-New Approaches'' - GRS-046/10 European Commission - CELL-PID HEALTH-261387 Zurich Centre for Integrative Human Physiology (ZIHP) Gottfried und Julia Bangerter-Rhyner-Stiftung Rossi Stiftung European Research Council (ERC)-European Commission - 260477 European Commission - 261441 National Institute for Health Research (NIHR) Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT)-Japan Society for the Promotion of Science Ministry of Health, Labour and Welfare, Japan Ministry of Defense Japan Agency for Medical Research and Development (AMED) National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Unit (and Leeds Teaching Hospitals Charitable Foundation) National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Allergy & Infectious Diseases (NIAID) Postdoctoral Research Associate (PRAT) Fellowship, National Institute of General Medical Sciences(NIGMS)/NIH EU-FP7 NET4CGD UK Research & Innovation (UKRI)/Medical Research Council UK (MRC)/European Commission - MR/M012328 - MR/M012328/2 UK Research & Innovation (UKRI)/Medical Research Council UK (MRC) - MR/M012328/2 - MR/M012328/1 Institut National de la Sante et de la Recherche Medicale (Inserm) Fondation pour la Recherche Medicale - ING20130526624 la Ligue Contre le Cancer (Comite de Paris)

Published
2016

9. A human immunodeficiency caused by mutations in the PIK3R1 gene

Author

Deau, Marie-Céline, primary, Heurtier, Lucie, additional, Frange, Pierre, additional, Suarez, Felipe, additional, Bole-Feysot, Christine, additional, Nitschke, Patrick, additional, Cavazzana, Marina, additional, Picard, Capucine, additional, Durandy, Anne, additional, Fischer, Alain, additional, and Kracker, Sven, additional

Published
2015
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10. Corrigendum.

Author

Deau, Marie-Céline, Heurtier, Lucie, Frange, Pierre, Suarez, Felipe, Bole-Feysot, Christine, Nitschke, Patrick, Cavazzana, Marina, Picard, Capucine, Durandy, Anne, Fischer, Alain, and Kracker, Sven

Subjects
*IMMUNODEFICIENCY, *MEDICAL genetics
Abstract

A correction to the article "A Human Immunodeficiency Caused by Mutations in the PIK3RI Gene," published in a previous issue of "The Journal of Clinical Investigation," is presented.

Published
2015
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11. Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).

Author

Heurtier L, Lamrini H, Chentout L, Deau MC, Bouafia A, Rosain J, Plaza JM, Parisot M, Dumont B, Turpin D, Merlin E, Moshous D, Aladjidi N, Neven B, Picard C, Cavazzana M, Fischer A, Durandy A, Stephan JL, and Kracker S

Subjects
Adolescent, Alleles, Amino Acid Substitution, Biomarkers, Child, Class I Phosphatidylinositol 3-Kinases blood, Class I Phosphatidylinositol 3-Kinases chemistry, DNA Mutational Analysis, Female, Gain of Function Mutation, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes blood, Male, Models, Molecular, Phenotype, Primary Immunodeficiency Diseases, Protein Conformation, T-Lymphocyte Subsets immunology, T-Lymphocyte Subsets metabolism, Class I Phosphatidylinositol 3-Kinases genetics, Genetic Association Studies, Immunologic Deficiency Syndromes diagnosis, Immunologic Deficiency Syndromes genetics, Mutation, Protein Interaction Domains and Motifs genetics
Published
2017
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