Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome
Identifieur interne : 005D94 ( Main/Exploration ); précédent : 005D93; suivant : 005D95Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome
Auteurs : Simon T. Cliffe [Australie] ; Donald B. Bloch [États-Unis] ; Santi Suryani [Australie] ; Erik-Jan Kamsteeg [Pays-Bas] ; Danielle T. Avery [Australie] ; Umaimainthan Palendira [Australie] ; Joseph A. Church [États-Unis] ; Brynn K. Wainstein [Australie] ; Antonino Trizzino [Italie] ; Gerard Lefranc [France] ; Carlo Akatcherian [Liban] ; Andre Megarbane [Liban] ; Christian Gilissen [Pays-Bas] ; Despina Moshous [France] ; Janine Reichenbach [Suisse] ; Siraj Misbah [Royaume-Uni] ; Uli Salzer [Allemagne] ; Mario Abinun [Australie] ; Peck Y. Ong [États-Unis] ; Polina Stepensky [Jordanie] ; Ezia Ruga [Italie] ; John B. Ziegler [Australie] ; Melanie Wong [Australie] ; Stuart G. Tangye [Australie] ; Robert Lindeman [Australie] ; Michael F. Buckley [Australie] ; Tony Roscioli [Australie]Source :
- Journal of allergy and clinical immunology [ 0091-6749 ] ; 2012.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme, Association, Immunologie.
English descriptors
- KwdEn :
Abstract
Background: Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic venoocclusive disease. Objectives: We sought to further characterize the clinical features, B-lineage cellular immunologic findings, and molecular pathogenesis of this disorder in 9 patients with new diagnoses, including 4 novel mutations from families of Italian, Hispanic, and Arabic ethnic origin. Methods: Methods used include clinical review; Sanger DNA sequencing of the SP110 gene; determination of transfected mutant protein function by using immunofluorescent studies in Hep-2 cells; quantitation of B-cell subsets by means of flow cytometry; assessments of B-cell function after stimulation with CD40 ligand, IL-21, or both; and differential gene expression array studies of EBV-transformed B cells. Results: We confirm the major diagnostic criteria and the clinical utility of SP110 mutation testing for the diagnosis of VODI. Analysis of 4 new alleles confirms that VODI is caused by reduced functional SP110 protein levels, Detailed B-cell immunophenotyping demonstrated that Sp110 deficiency compromises the ability of human B cells to respond to T cell- dependent stimuli and differentiate into immunoglobulin-secreting cells in vitro. Expression microarray studies have identified pathways involved in B-lymphocyte differentiation and macrophage function. Conclusion: These studies show that a range of mutations in SP110 that cause decreased SP110 protein levels and impaired late B-cell differentiation cause VODI and that the condition is not restricted to the Lebanese population.
Affiliations:
- Allemagne, Australie, France, Italie, Jordanie, Liban, Pays-Bas, Royaume-Uni, Suisse, États-Unis
- Angleterre, Canton de Zurich, Gueldre, Languedoc-Roussillon, Massachusetts, Nouvelle-Galles du Sud, Occitanie (région administrative), Oxfordshire, Île-de-France
- Boston, Montpellier, Nimègue, Oxford, Paris, Sydney, Zurich
- Université Montpellier 2, Université Paris-Descartes, Université de Zurich
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 000F80
- to stream PascalFrancis, to step Curation: 004F37
- to stream PascalFrancis, to step Checkpoint: 001277
- to stream Main, to step Merge: 006112
- to stream Main, to step Curation: 005D94
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome</title><author><name sortKey="Cliffe, Simon T" sort="Cliffe, Simon T" uniqKey="Cliffe S" first="Simon T." last="Cliffe">Simon T. Cliffe</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Haematology and Genetics, Prince of Wales Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Bloch, Donald B" sort="Bloch, Donald B" uniqKey="Bloch D" first="Donald B." last="Bloch">Donald B. Bloch</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Boston and Harvard Medical School</s1><s2>Boston</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Suryani, Santi" sort="Suryani, Santi" uniqKey="Suryani S" first="Santi" last="Suryani">Santi Suryani</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Immunology Program, Garvan Institute of Medical Research and St Vincent's Clinical School, University of New South Wales</s1><s2>Sydney</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Kamsteeg, Erik Jan" sort="Kamsteeg, Erik Jan" uniqKey="Kamsteeg E" first="Erik-Jan" last="Kamsteeg">Erik-Jan Kamsteeg</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>4 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Avery, Danielle T" sort="Avery, Danielle T" uniqKey="Avery D" first="Danielle T." last="Avery">Danielle T. Avery</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Immunology Program, Garvan Institute of Medical Research and St Vincent's Clinical School, University of New South Wales</s1><s2>Sydney</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Palendira, Umaimainthan" sort="Palendira, Umaimainthan" uniqKey="Palendira U" first="Umaimainthan" last="Palendira">Umaimainthan Palendira</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Immunology Program, Garvan Institute of Medical Research and St Vincent's Clinical School, University of New South Wales</s1><s2>Sydney</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Church, Joseph A" sort="Church, Joseph A" uniqKey="Church J" first="Joseph A." last="Church">Joseph A. Church</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Clinical Immunology and Allergy, Childrens Hospital Los Angeles</s1><s3>USA</s3><sZ>7 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Division of Clinical Immunology and Allergy, Childrens Hospital Los Angeles</wicri:noRegion></affiliation></author><author><name sortKey="Wainstein, Brynn K" sort="Wainstein, Brynn K" uniqKey="Wainstein B" first="Brynn K." last="Wainstein">Brynn K. Wainstein</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Immunology & Infectious Diseases. Sydney Children's Hospital</s1><s3>AUS</s3><sZ>8 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Department of Immunology & Infectious Diseases. Sydney Children's Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Trizzino, Antonino" sort="Trizzino, Antonino" uniqKey="Trizzino A" first="Antonino" last="Trizzino">Antonino Trizzino</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Pediatric Hematology Oncology, Ospedale dei Bambini "G. Di Cristina," ARNAS Civico</s1><s2>Palermo</s2><s3>ITA</s3><sZ>9 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Palermo</wicri:noRegion></affiliation></author><author><name sortKey="Lefranc, Gerard" sort="Lefranc, Gerard" uniqKey="Lefranc G" first="Gerard" last="Lefranc">Gerard Lefranc</name><affiliation wicri:level="4"><inist:fA14 i1="08"><s1>Institute of Human Genetics, CNRS, UPR 1142, and Université Montpellier 2</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement><settlement type="city">Montpellier</settlement></placeName><orgName type="university">Université Montpellier 2</orgName></affiliation></author><author><name sortKey="Akatcherian, Carlo" sort="Akatcherian, Carlo" uniqKey="Akatcherian C" first="Carlo" last="Akatcherian">Carlo Akatcherian</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Pediatrics, Hospital Hôtel-Dieu de France, Saint Joseph University</s1><s2>Beirut</s2><s3>LBN</s3><sZ>11 aut.</sZ></inist:fA14><country>Liban</country><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="Andre" last="Megarbane">Andre Megarbane</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Medical Genetics Unit, Faculty of Medicine, Saint Joseph University</s1><s2>Beirut</s2><s3>LBN</s3><sZ>12 aut.</sZ></inist:fA14><country>Liban</country><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author><author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>4 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Moshous, Despina" sort="Moshous, Despina" uniqKey="Moshous D" first="Despina" last="Moshous">Despina Moshous</name><affiliation wicri:level="4"><inist:fA14 i1="11"><s1>Faculté de Médecine René Descartes, Université Paris Descartes, Site Necker, IFR94, Paris, and Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Unité d'Immunologie et d'Hématologie Pédiatriques</s1><s2>Paris</s2><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Reichenbach, Janine" sort="Reichenbach, Janine" uniqKey="Reichenbach J" first="Janine" last="Reichenbach">Janine Reichenbach</name><affiliation wicri:level="4"><inist:fA14 i1="12"><s1>Division of Immunology/Haematology/BMT and the Children's Research Centre, University Children's Hospital Zurich, and the Zurich Centre for Integrative Human Physiology (ZIHP), University of Zurich</s1><s3>CHE</s3><sZ>15 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName><orgName type="university">Université de Zurich</orgName></affiliation></author><author><name sortKey="Misbah, Siraj" sort="Misbah, Siraj" uniqKey="Misbah S" first="Siraj" last="Misbah">Siraj Misbah</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Department of Clinical Immunology, Oxford Centre for Clinical Immunology, John Radcliffe Hospital</s1><s2>Oxford</s2><s3>GBR</s3><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Salzer, Uli" sort="Salzer, Uli" uniqKey="Salzer U" first="Uli" last="Salzer">Uli Salzer</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Centre of Chronic Immunodeficiency (CCI), University Medical Center Freiburg and University of Freiburg</s1><s3>DEU</s3><sZ>17 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University Medical Center Freiburg and University of Freiburg</wicri:noRegion><wicri:noRegion>Centre of Chronic Immunodeficiency (CCI), University Medical Center Freiburg and University of Freiburg</wicri:noRegion></affiliation></author><author><name sortKey="Abinun, Mario" sort="Abinun, Mario" uniqKey="Abinun M" first="Mario" last="Abinun">Mario Abinun</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Paediatric Immunology, Newcastle General Hospital</s1><s3>AUS</s3><sZ>18 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Department of Paediatric Immunology, Newcastle General Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Ong, Peck Y" sort="Ong, Peck Y" uniqKey="Ong P" first="Peck Y." last="Ong">Peck Y. Ong</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Clinical Immunology and Allergy, Childrens Hospital Los Angeles</s1><s3>USA</s3><sZ>7 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Division of Clinical Immunology and Allergy, Childrens Hospital Los Angeles</wicri:noRegion></affiliation></author><author><name sortKey="Stepensky, Polina" sort="Stepensky, Polina" uniqKey="Stepensky P" first="Polina" last="Stepensky">Polina Stepensky</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Pediatric Hematology-Oncology and BMT, Hadassah University Hospital.</s1><s2>Jerusalem</s2><s3>JOR</s3><sZ>20 aut.</sZ></inist:fA14><country>Jordanie</country><wicri:noRegion>Jerusalem</wicri:noRegion></affiliation></author><author><name sortKey="Ruga, Ezia" sort="Ruga, Ezia" uniqKey="Ruga E" first="Ezia" last="Ruga">Ezia Ruga</name><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Department of Pediatrics, University of Padova</s1><s2>Padua</s2><s3>ITA</s3><sZ>21 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Padua</wicri:noRegion></affiliation></author><author><name sortKey="Ziegler, John B" sort="Ziegler, John B" uniqKey="Ziegler J" first="John B." last="Ziegler">John B. Ziegler</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Immunology & Infectious Diseases. Sydney Children's Hospital</s1><s3>AUS</s3><sZ>8 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Department of Immunology & Infectious Diseases. Sydney Children's Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Wong, Melanie" sort="Wong, Melanie" uniqKey="Wong M" first="Melanie" last="Wong">Melanie Wong</name><affiliation wicri:level="3"><inist:fA14 i1="18"><s1>Department of Allergy, Immunology and Infectious Diseases, the Children's Hospital, Westmead</s1><s2>Sydney</s2><s3>AUS</s3><sZ>23 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Immunology Program, Garvan Institute of Medical Research and St Vincent's Clinical School, University of New South Wales</s1><s2>Sydney</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Lindeman, Robert" sort="Lindeman, Robert" uniqKey="Lindeman R" first="Robert" last="Lindeman">Robert Lindeman</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Haematology and Genetics, Prince of Wales Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Buckley, Michael F" sort="Buckley, Michael F" uniqKey="Buckley M" first="Michael F." last="Buckley">Michael F. Buckley</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Haematology and Genetics, Prince of Wales Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Roscioli, Tony" sort="Roscioli, Tony" uniqKey="Roscioli T" first="Tony" last="Roscioli">Tony Roscioli</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Haematology and Genetics, Prince of Wales Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="19"><s1>School of Women and Children's Health, Sydney Children's Hospital and the University of New South Wales</s1><s2>Sydney</s2><s3>AUS</s3><sZ>27 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0379589</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0379589 INIST</idno><idno type="RBID">Pascal:12-0379589</idno><idno type="wicri:Area/PascalFrancis/Corpus">000F80</idno><idno type="wicri:Area/PascalFrancis/Curation">004F37</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001277</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">001277</idno><idno type="wicri:doubleKey">0091-6749:2012:Cliffe S:clinical:molecular:and</idno><idno type="wicri:Area/Main/Merge">006112</idno><idno type="wicri:Area/Main/Curation">005D94</idno><idno type="wicri:Area/Main/Exploration">005D94</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome</title><author><name sortKey="Cliffe, Simon T" sort="Cliffe, Simon T" uniqKey="Cliffe S" first="Simon T." last="Cliffe">Simon T. Cliffe</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Haematology and Genetics, Prince of Wales Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Bloch, Donald B" sort="Bloch, Donald B" uniqKey="Bloch D" first="Donald B." last="Bloch">Donald B. Bloch</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Boston and Harvard Medical School</s1><s2>Boston</s2><s3>USA</s3><sZ>2 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Suryani, Santi" sort="Suryani, Santi" uniqKey="Suryani S" first="Santi" last="Suryani">Santi Suryani</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Immunology Program, Garvan Institute of Medical Research and St Vincent's Clinical School, University of New South Wales</s1><s2>Sydney</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Kamsteeg, Erik Jan" sort="Kamsteeg, Erik Jan" uniqKey="Kamsteeg E" first="Erik-Jan" last="Kamsteeg">Erik-Jan Kamsteeg</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>4 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Avery, Danielle T" sort="Avery, Danielle T" uniqKey="Avery D" first="Danielle T." last="Avery">Danielle T. Avery</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Immunology Program, Garvan Institute of Medical Research and St Vincent's Clinical School, University of New South Wales</s1><s2>Sydney</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Palendira, Umaimainthan" sort="Palendira, Umaimainthan" uniqKey="Palendira U" first="Umaimainthan" last="Palendira">Umaimainthan Palendira</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Immunology Program, Garvan Institute of Medical Research and St Vincent's Clinical School, University of New South Wales</s1><s2>Sydney</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Church, Joseph A" sort="Church, Joseph A" uniqKey="Church J" first="Joseph A." last="Church">Joseph A. Church</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Clinical Immunology and Allergy, Childrens Hospital Los Angeles</s1><s3>USA</s3><sZ>7 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Division of Clinical Immunology and Allergy, Childrens Hospital Los Angeles</wicri:noRegion></affiliation></author><author><name sortKey="Wainstein, Brynn K" sort="Wainstein, Brynn K" uniqKey="Wainstein B" first="Brynn K." last="Wainstein">Brynn K. Wainstein</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Immunology & Infectious Diseases. Sydney Children's Hospital</s1><s3>AUS</s3><sZ>8 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Department of Immunology & Infectious Diseases. Sydney Children's Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Trizzino, Antonino" sort="Trizzino, Antonino" uniqKey="Trizzino A" first="Antonino" last="Trizzino">Antonino Trizzino</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Pediatric Hematology Oncology, Ospedale dei Bambini "G. Di Cristina," ARNAS Civico</s1><s2>Palermo</s2><s3>ITA</s3><sZ>9 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Palermo</wicri:noRegion></affiliation></author><author><name sortKey="Lefranc, Gerard" sort="Lefranc, Gerard" uniqKey="Lefranc G" first="Gerard" last="Lefranc">Gerard Lefranc</name><affiliation wicri:level="4"><inist:fA14 i1="08"><s1>Institute of Human Genetics, CNRS, UPR 1142, and Université Montpellier 2</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement><settlement type="city">Montpellier</settlement></placeName><orgName type="university">Université Montpellier 2</orgName></affiliation></author><author><name sortKey="Akatcherian, Carlo" sort="Akatcherian, Carlo" uniqKey="Akatcherian C" first="Carlo" last="Akatcherian">Carlo Akatcherian</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Pediatrics, Hospital Hôtel-Dieu de France, Saint Joseph University</s1><s2>Beirut</s2><s3>LBN</s3><sZ>11 aut.</sZ></inist:fA14><country>Liban</country><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="Andre" last="Megarbane">Andre Megarbane</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Medical Genetics Unit, Faculty of Medicine, Saint Joseph University</s1><s2>Beirut</s2><s3>LBN</s3><sZ>12 aut.</sZ></inist:fA14><country>Liban</country><wicri:noRegion>Beirut</wicri:noRegion></affiliation></author><author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>4 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Moshous, Despina" sort="Moshous, Despina" uniqKey="Moshous D" first="Despina" last="Moshous">Despina Moshous</name><affiliation wicri:level="4"><inist:fA14 i1="11"><s1>Faculté de Médecine René Descartes, Université Paris Descartes, Site Necker, IFR94, Paris, and Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Unité d'Immunologie et d'Hématologie Pédiatriques</s1><s2>Paris</s2><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Reichenbach, Janine" sort="Reichenbach, Janine" uniqKey="Reichenbach J" first="Janine" last="Reichenbach">Janine Reichenbach</name><affiliation wicri:level="4"><inist:fA14 i1="12"><s1>Division of Immunology/Haematology/BMT and the Children's Research Centre, University Children's Hospital Zurich, and the Zurich Centre for Integrative Human Physiology (ZIHP), University of Zurich</s1><s3>CHE</s3><sZ>15 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName><orgName type="university">Université de Zurich</orgName></affiliation></author><author><name sortKey="Misbah, Siraj" sort="Misbah, Siraj" uniqKey="Misbah S" first="Siraj" last="Misbah">Siraj Misbah</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Department of Clinical Immunology, Oxford Centre for Clinical Immunology, John Radcliffe Hospital</s1><s2>Oxford</s2><s3>GBR</s3><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Salzer, Uli" sort="Salzer, Uli" uniqKey="Salzer U" first="Uli" last="Salzer">Uli Salzer</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Centre of Chronic Immunodeficiency (CCI), University Medical Center Freiburg and University of Freiburg</s1><s3>DEU</s3><sZ>17 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University Medical Center Freiburg and University of Freiburg</wicri:noRegion><wicri:noRegion>Centre of Chronic Immunodeficiency (CCI), University Medical Center Freiburg and University of Freiburg</wicri:noRegion></affiliation></author><author><name sortKey="Abinun, Mario" sort="Abinun, Mario" uniqKey="Abinun M" first="Mario" last="Abinun">Mario Abinun</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Paediatric Immunology, Newcastle General Hospital</s1><s3>AUS</s3><sZ>18 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Department of Paediatric Immunology, Newcastle General Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Ong, Peck Y" sort="Ong, Peck Y" uniqKey="Ong P" first="Peck Y." last="Ong">Peck Y. Ong</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Division of Clinical Immunology and Allergy, Childrens Hospital Los Angeles</s1><s3>USA</s3><sZ>7 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Division of Clinical Immunology and Allergy, Childrens Hospital Los Angeles</wicri:noRegion></affiliation></author><author><name sortKey="Stepensky, Polina" sort="Stepensky, Polina" uniqKey="Stepensky P" first="Polina" last="Stepensky">Polina Stepensky</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Pediatric Hematology-Oncology and BMT, Hadassah University Hospital.</s1><s2>Jerusalem</s2><s3>JOR</s3><sZ>20 aut.</sZ></inist:fA14><country>Jordanie</country><wicri:noRegion>Jerusalem</wicri:noRegion></affiliation></author><author><name sortKey="Ruga, Ezia" sort="Ruga, Ezia" uniqKey="Ruga E" first="Ezia" last="Ruga">Ezia Ruga</name><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Department of Pediatrics, University of Padova</s1><s2>Padua</s2><s3>ITA</s3><sZ>21 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Padua</wicri:noRegion></affiliation></author><author><name sortKey="Ziegler, John B" sort="Ziegler, John B" uniqKey="Ziegler J" first="John B." last="Ziegler">John B. Ziegler</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Immunology & Infectious Diseases. Sydney Children's Hospital</s1><s3>AUS</s3><sZ>8 aut.</sZ><sZ>22 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Department of Immunology & Infectious Diseases. Sydney Children's Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Wong, Melanie" sort="Wong, Melanie" uniqKey="Wong M" first="Melanie" last="Wong">Melanie Wong</name><affiliation wicri:level="3"><inist:fA14 i1="18"><s1>Department of Allergy, Immunology and Infectious Diseases, the Children's Hospital, Westmead</s1><s2>Sydney</s2><s3>AUS</s3><sZ>23 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Immunology Program, Garvan Institute of Medical Research and St Vincent's Clinical School, University of New South Wales</s1><s2>Sydney</s2><s3>AUS</s3><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Lindeman, Robert" sort="Lindeman, Robert" uniqKey="Lindeman R" first="Robert" last="Lindeman">Robert Lindeman</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Haematology and Genetics, Prince of Wales Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Buckley, Michael F" sort="Buckley, Michael F" uniqKey="Buckley M" first="Michael F." last="Buckley">Michael F. Buckley</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Haematology and Genetics, Prince of Wales Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Roscioli, Tony" sort="Roscioli, Tony" uniqKey="Roscioli T" first="Tony" last="Roscioli">Tony Roscioli</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Haematology and Genetics, Prince of Wales Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>25 aut.</sZ><sZ>26 aut.</sZ><sZ>27 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="19"><s1>School of Women and Children's Health, Sydney Children's Hospital and the University of New South Wales</s1><s2>Sydney</s2><s3>AUS</s3><sZ>27 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Journal of allergy and clinical immunology</title><title level="j" type="abbreviated">J. allergy clin. immunol.</title><idno type="ISSN">0091-6749</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Journal of allergy and clinical immunology</title><title level="j" type="abbreviated">J. allergy clin. immunol.</title><idno type="ISSN">0091-6749</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Agammaglobulinemia</term><term>Association</term><term>B-Lymphocyte</term><term>Cell</term><term>Cell proliferation</term><term>Human</term><term>Immune deficiency</term><term>Immunology</term><term>Immunopathology</term><term>Symptomatology</term><term>Venoocclusive disease</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie veinoocclusive</term><term>Immunodéficit</term><term>Immunoglobulinopénie</term><term>Symptomatologie</term><term>Cellule</term><term>Homme</term><term>Association</term><term>Lymphocyte B</term><term>Multiplication cellulaire</term><term>Immunologie</term><term>Immunopathologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term><term>Association</term><term>Immunologie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic venoocclusive disease. Objectives: We sought to further characterize the clinical features, B-lineage cellular immunologic findings, and molecular pathogenesis of this disorder in 9 patients with new diagnoses, including 4 novel mutations from families of Italian, Hispanic, and Arabic ethnic origin. Methods: Methods used include clinical review; Sanger DNA sequencing of the SP110 gene; determination of transfected mutant protein function by using immunofluorescent studies in Hep-2 cells; quantitation of B-cell subsets by means of flow cytometry; assessments of B-cell function after stimulation with CD40 ligand, IL-21, or both; and differential gene expression array studies of EBV-transformed B cells. Results: We confirm the major diagnostic criteria and the clinical utility of SP110 mutation testing for the diagnosis of VODI. Analysis of 4 new alleles confirms that VODI is caused by reduced functional SP110 protein levels, Detailed B-cell immunophenotyping demonstrated that Sp110 deficiency compromises the ability of human B cells to respond to T cell- dependent stimuli and differentiate into immunoglobulin-secreting cells in vitro. Expression microarray studies have identified pathways involved in B-lymphocyte differentiation and macrophage function. Conclusion: These studies show that a range of mutations in SP110 that cause decreased SP110 protein levels and impaired late B-cell differentiation cause VODI and that the condition is not restricted to the Lebanese population.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Italie</li><li>Jordanie</li><li>Liban</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suisse</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Canton de Zurich</li><li>Gueldre</li><li>Languedoc-Roussillon</li><li>Massachusetts</li><li>Nouvelle-Galles du Sud</li><li>Occitanie (région administrative)</li><li>Oxfordshire</li><li>Île-de-France</li></region><settlement><li>Boston</li><li>Montpellier</li><li>Nimègue</li><li>Oxford</li><li>Paris</li><li>Sydney</li><li>Zurich</li></settlement><orgName><li>Université Montpellier 2</li><li>Université Paris-Descartes</li><li>Université de Zurich</li></orgName></list><tree><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Cliffe, Simon T" sort="Cliffe, Simon T" uniqKey="Cliffe S" first="Simon T." last="Cliffe">Simon T. Cliffe</name></region><name sortKey="Abinun, Mario" sort="Abinun, Mario" uniqKey="Abinun M" first="Mario" last="Abinun">Mario Abinun</name><name sortKey="Avery, Danielle T" sort="Avery, Danielle T" uniqKey="Avery D" first="Danielle T." last="Avery">Danielle T. Avery</name><name sortKey="Buckley, Michael F" sort="Buckley, Michael F" uniqKey="Buckley M" first="Michael F." last="Buckley">Michael F. Buckley</name><name sortKey="Lindeman, Robert" sort="Lindeman, Robert" uniqKey="Lindeman R" first="Robert" last="Lindeman">Robert Lindeman</name><name sortKey="Palendira, Umaimainthan" sort="Palendira, Umaimainthan" uniqKey="Palendira U" first="Umaimainthan" last="Palendira">Umaimainthan Palendira</name><name sortKey="Roscioli, Tony" sort="Roscioli, Tony" uniqKey="Roscioli T" first="Tony" last="Roscioli">Tony Roscioli</name><name sortKey="Roscioli, Tony" sort="Roscioli, Tony" uniqKey="Roscioli T" first="Tony" last="Roscioli">Tony Roscioli</name><name sortKey="Suryani, Santi" sort="Suryani, Santi" uniqKey="Suryani S" first="Santi" last="Suryani">Santi Suryani</name><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><name sortKey="Wainstein, Brynn K" sort="Wainstein, Brynn K" uniqKey="Wainstein B" first="Brynn K." last="Wainstein">Brynn K. Wainstein</name><name sortKey="Wong, Melanie" sort="Wong, Melanie" uniqKey="Wong M" first="Melanie" last="Wong">Melanie Wong</name><name sortKey="Ziegler, John B" sort="Ziegler, John B" uniqKey="Ziegler J" first="John B." last="Ziegler">John B. Ziegler</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Bloch, Donald B" sort="Bloch, Donald B" uniqKey="Bloch D" first="Donald B." last="Bloch">Donald B. Bloch</name></region><name sortKey="Church, Joseph A" sort="Church, Joseph A" uniqKey="Church J" first="Joseph A." last="Church">Joseph A. Church</name><name sortKey="Ong, Peck Y" sort="Ong, Peck Y" uniqKey="Ong P" first="Peck Y." last="Ong">Peck Y. Ong</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Kamsteeg, Erik Jan" sort="Kamsteeg, Erik Jan" uniqKey="Kamsteeg E" first="Erik-Jan" last="Kamsteeg">Erik-Jan Kamsteeg</name></region><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name></country><country name="Italie"><noRegion><name sortKey="Trizzino, Antonino" sort="Trizzino, Antonino" uniqKey="Trizzino A" first="Antonino" last="Trizzino">Antonino Trizzino</name></noRegion><name sortKey="Ruga, Ezia" sort="Ruga, Ezia" uniqKey="Ruga E" first="Ezia" last="Ruga">Ezia Ruga</name></country><country name="France"><region name="Occitanie (région administrative)"><name sortKey="Lefranc, Gerard" sort="Lefranc, Gerard" uniqKey="Lefranc G" first="Gerard" last="Lefranc">Gerard Lefranc</name></region><name sortKey="Moshous, Despina" sort="Moshous, Despina" uniqKey="Moshous D" first="Despina" last="Moshous">Despina Moshous</name></country><country name="Liban"><noRegion><name sortKey="Akatcherian, Carlo" sort="Akatcherian, Carlo" uniqKey="Akatcherian C" first="Carlo" last="Akatcherian">Carlo Akatcherian</name></noRegion><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="Andre" last="Megarbane">Andre Megarbane</name></country><country name="Suisse"><region name="Canton de Zurich"><name sortKey="Reichenbach, Janine" sort="Reichenbach, Janine" uniqKey="Reichenbach J" first="Janine" last="Reichenbach">Janine Reichenbach</name></region></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Misbah, Siraj" sort="Misbah, Siraj" uniqKey="Misbah S" first="Siraj" last="Misbah">Siraj Misbah</name></region></country><country name="Allemagne"><noRegion><name sortKey="Salzer, Uli" sort="Salzer, Uli" uniqKey="Salzer U" first="Uli" last="Salzer">Uli Salzer</name></noRegion></country><country name="Jordanie"><noRegion><name sortKey="Stepensky, Polina" sort="Stepensky, Polina" uniqKey="Stepensky P" first="Polina" last="Stepensky">Polina Stepensky</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 005D94 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 005D94 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= Pascal:12-0379589
|texte= Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome
}}
| This area was generated with Dilib version V0.6.33. |  |