Dedicator of cytokinesis 8-deficient CD4(+) T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.
Identifieur interne : 000E68 ( Main/Exploration ); précédent : 000E67; suivant : 000E69Dedicator of cytokinesis 8-deficient CD4(+) T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells.
Auteurs : Stuart G. Tangye [Australie] ; Bethany Pillay [Australie] ; Katrina L. Randall [Australie] ; Danielle T. Avery [Australie] ; Tri Giang Phan [Australie] ; Paul Gray [Australie] ; John B. Ziegler [Australie] ; Joanne M. Smart [Australie] ; Jane Peake [Australie] ; Peter D. Arkwright [Royaume-Uni] ; Sophie Hambleton [Royaume-Uni] ; Jordan Orange ; Christopher C. Goodnow [Australie] ; Gulbu Uzel ; Jean-Laurent Casanova [États-Unis] ; Saul Oswaldo Lugo Reyes [Mexique] ; Alexandra F. Freeman ; Helen C. Su ; Cindy S. Ma [Australie]Source :
- The Journal of allergy and clinical immunology [ 1097-6825 ] ; 2017.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Agranulocytes (immunologie), Allergènes (immunologie), Cytokines (immunologie), Déficits immunitaires (immunologie), Enfant, Enfant d'âge préscolaire, Facteurs d'échange de nucléotides guanyliques (déficit), Facteurs d'échange de nucléotides guanyliques (immunologie), Femelle, Humains, Immunoglobuline E (sang), Jeune adulte, Lymphocytes T (immunologie), Mâle.
- MESH :
- déficit : Facteurs d'échange de nucléotides guanyliques.
- immunologie : Agranulocytes, Allergènes, Cytokines, Déficits immunitaires, Facteurs d'échange de nucléotides guanyliques, Lymphocytes T.
- sang : Immunoglobuline E.
- Adolescent, Adulte, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Jeune adulte, Mâle.
English descriptors
- KwdEn :
- Adolescent, Adult, Allergens (immunology), Child, Child, Preschool, Cytokines (immunology), Female, Guanine Nucleotide Exchange Factors (deficiency), Guanine Nucleotide Exchange Factors (immunology), Humans, Immunoglobulin E (blood), Immunologic Deficiency Syndromes (immunology), Leukocytes, Mononuclear (immunology), Male, T-Lymphocytes (immunology), Young Adult.
- MESH :
- chemical , blood : Immunoglobulin E.
- chemical , deficiency : Guanine Nucleotide Exchange Factors.
- chemical , immunology : Allergens, Cytokines, Guanine Nucleotide Exchange Factors.
- immunology : Immunologic Deficiency Syndromes, Leukocytes, Mononuclear, T-Lymphocytes.
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Male, Young Adult.
Abstract
Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8. This disorder is characterized by recurrent cutaneous infections, increased serum IgE levels, and severe atopic disease, including food-induced anaphylaxis. However, the contribution of defects in CD4(+) T cells to disease pathogenesis in these patients has not been thoroughly investigated.
DOI: 10.1016/j.jaci.2016.07.016
PubMed: 27554822
Affiliations:
- Australie, Mexique, Royaume-Uni, États-Unis
- Angleterre, Grand Manchester, Victoria (État), État de New York
- Manchester, Melbourne
- Université de Manchester
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Le document en format XML
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Smart</name><affiliation wicri:level="3"><nlm:affiliation>Department of Allergy and Immunology, Royal Children's Hospital, Melbourne, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Allergy and Immunology, Royal Children's Hospital, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Peake, Jane" sort="Peake, Jane" uniqKey="Peake J" first="Jane" last="Peake">Jane Peake</name><affiliation wicri:level="1"><nlm:affiliation>University of Queensland and Lady Cilento Children's Hospital, Brisbane, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of Queensland and Lady Cilento Children's Hospital, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Arkwright, Peter D" sort="Arkwright, Peter D" uniqKey="Arkwright P" first="Peter D" last="Arkwright">Peter D. Arkwright</name><affiliation wicri:level="4"><nlm:affiliation>University of Manchester, Royal Manchester Children's Hospital, Manchester, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Manchester, Royal Manchester Children's Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Cellular Medicine, Newcastle University and Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cellular Medicine, Newcastle University and Great North Children's Hospital, Newcastle upon Tyne</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></affiliation></author><author><name sortKey="Orange, Jordan" sort="Orange, Jordan" uniqKey="Orange J" first="Jordan" last="Orange">Jordan Orange</name><affiliation><nlm:affiliation>Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine; the Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, and the Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.</nlm:affiliation><wicri:noCountry code="subField">Tex</wicri:noCountry></affiliation></author><author><name sortKey="Goodnow, Christopher C" sort="Goodnow, Christopher C" uniqKey="Goodnow C" first="Christopher C" last="Goodnow">Christopher C. Goodnow</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name><affiliation><nlm:affiliation>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.</nlm:affiliation><wicri:noCountry code="subField">Md</wicri:noCountry></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes, Paris, France; Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Howard Hughes Medical Institute, New York, NY.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes, Paris, France; Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Howard Hughes Medical Institute, New York</wicri:cityArea></affiliation></author><author><name sortKey="Lugo Reyes, Saul Oswaldo" sort="Lugo Reyes, Saul Oswaldo" uniqKey="Lugo Reyes S" first="Saul Oswaldo" last="Lugo Reyes">Saul Oswaldo Lugo Reyes</name><affiliation wicri:level="1"><nlm:affiliation>Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico.</nlm:affiliation><country xml:lang="fr">Mexique</country><wicri:regionArea>Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City</wicri:regionArea><wicri:noRegion>Mexico City</wicri:noRegion></affiliation></author><author><name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F" last="Freeman">Alexandra F. Freeman</name><affiliation><nlm:affiliation>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.</nlm:affiliation><wicri:noCountry code="subField">Md</wicri:noCountry></affiliation></author><author><name sortKey="Su, Helen C" sort="Su, Helen C" uniqKey="Su H" first="Helen C" last="Su">Helen C. Su</name><affiliation><nlm:affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.</nlm:affiliation><wicri:noCountry code="subField">Md</wicri:noCountry></affiliation></author><author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S" last="Ma">Cindy S. Ma</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia. 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Tangye</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia. Electronic address: s.tangye@garvan.org.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Pillay, Bethany" sort="Pillay, Bethany" uniqKey="Pillay B" first="Bethany" last="Pillay">Bethany Pillay</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Randall, Katrina L" sort="Randall, Katrina L" uniqKey="Randall K" first="Katrina L" last="Randall">Katrina L. Randall</name><affiliation wicri:level="1"><nlm:affiliation>Department of Immunology, John Curtin School of Medical Research, Acton, Australia; Australian National University Medical School, Australian National University, Acton, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Immunology, John Curtin School of Medical Research, Acton, Australia; Australian National University Medical School, Australian National University, Acton</wicri:regionArea><wicri:noRegion>Acton</wicri:noRegion></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="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Phan, Tri Giang" sort="Phan, Tri Giang" uniqKey="Phan T" first="Tri Giang" last="Phan">Tri Giang Phan</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Gray, Paul" sort="Gray, Paul" uniqKey="Gray P" first="Paul" last="Gray">Paul Gray</name><affiliation wicri:level="1"><nlm:affiliation>University of New South Wales School of Women's and Children's Health, Randwick, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales School of Women's and Children's Health, Randwick</wicri:regionArea><wicri:noRegion>Randwick</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"><nlm:affiliation>University of New South Wales School of Women's and Children's Health, Randwick, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of New South Wales School of Women's and Children's Health, Randwick</wicri:regionArea><wicri:noRegion>Randwick</wicri:noRegion></affiliation></author><author><name sortKey="Smart, Joanne M" sort="Smart, Joanne M" uniqKey="Smart J" first="Joanne M" last="Smart">Joanne M. Smart</name><affiliation wicri:level="3"><nlm:affiliation>Department of Allergy and Immunology, Royal Children's Hospital, Melbourne, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Allergy and Immunology, Royal Children's Hospital, Melbourne</wicri:regionArea><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Peake, Jane" sort="Peake, Jane" uniqKey="Peake J" first="Jane" last="Peake">Jane Peake</name><affiliation wicri:level="1"><nlm:affiliation>University of Queensland and Lady Cilento Children's Hospital, Brisbane, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>University of Queensland and Lady Cilento Children's Hospital, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Arkwright, Peter D" sort="Arkwright, Peter D" uniqKey="Arkwright P" first="Peter D" last="Arkwright">Peter D. Arkwright</name><affiliation wicri:level="4"><nlm:affiliation>University of Manchester, Royal Manchester Children's Hospital, Manchester, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University of Manchester, Royal Manchester Children's Hospital, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Cellular Medicine, Newcastle University and Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cellular Medicine, Newcastle University and Great North Children's Hospital, Newcastle upon Tyne</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></affiliation></author><author><name sortKey="Orange, Jordan" sort="Orange, Jordan" uniqKey="Orange J" first="Jordan" last="Orange">Jordan Orange</name><affiliation><nlm:affiliation>Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine; the Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, and the Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex.</nlm:affiliation><wicri:noCountry code="subField">Tex</wicri:noCountry></affiliation></author><author><name sortKey="Goodnow, Christopher C" sort="Goodnow, Christopher C" uniqKey="Goodnow C" first="Christopher C" last="Goodnow">Christopher C. Goodnow</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author><author><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name><affiliation><nlm:affiliation>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.</nlm:affiliation><wicri:noCountry code="subField">Md</wicri:noCountry></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation wicri:level="2"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes, Paris, France; Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Howard Hughes Medical Institute, New York, NY.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Institut IMAGINE, Necker Medical School, University Paris Descartes, Paris, France; Pediatric Hematology and Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Howard Hughes Medical Institute, New York</wicri:cityArea></affiliation></author><author><name sortKey="Lugo Reyes, Saul Oswaldo" sort="Lugo Reyes, Saul Oswaldo" uniqKey="Lugo Reyes S" first="Saul Oswaldo" last="Lugo Reyes">Saul Oswaldo Lugo Reyes</name><affiliation wicri:level="1"><nlm:affiliation>Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City, Mexico.</nlm:affiliation><country xml:lang="fr">Mexique</country><wicri:regionArea>Immunodeficiencies Research Unit, National Institute of Pediatrics, Mexico City</wicri:regionArea><wicri:noRegion>Mexico City</wicri:noRegion></affiliation></author><author><name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F" last="Freeman">Alexandra F. Freeman</name><affiliation><nlm:affiliation>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.</nlm:affiliation><wicri:noCountry code="subField">Md</wicri:noCountry></affiliation></author><author><name sortKey="Su, Helen C" sort="Su, Helen C" uniqKey="Su H" first="Helen C" last="Su">Helen C. Su</name><affiliation><nlm:affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.</nlm:affiliation><wicri:noCountry code="subField">Md</wicri:noCountry></affiliation></author><author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S" last="Ma">Cindy S. Ma</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia. Electronic address: c.ma@garvan.org.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst</wicri:regionArea><wicri:noRegion>Darlinghurst</wicri:noRegion></affiliation></author></analytic><series><title level="j">The Journal of allergy and clinical immunology</title><idno type="eISSN">1097-6825</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Allergens (immunology)</term><term>Child</term><term>Child, Preschool</term><term>Cytokines (immunology)</term><term>Female</term><term>Guanine Nucleotide Exchange Factors (deficiency)</term><term>Guanine Nucleotide Exchange Factors (immunology)</term><term>Humans</term><term>Immunoglobulin E (blood)</term><term>Immunologic Deficiency Syndromes (immunology)</term><term>Leukocytes, Mononuclear (immunology)</term><term>Male</term><term>T-Lymphocytes (immunology)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Agranulocytes (immunologie)</term><term>Allergènes (immunologie)</term><term>Cytokines (immunologie)</term><term>Déficits immunitaires (immunologie)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Facteurs d'échange de nucléotides guanyliques (déficit)</term><term>Facteurs d'échange de nucléotides guanyliques (immunologie)</term><term>Femelle</term><term>Humains</term><term>Immunoglobuline E (sang)</term><term>Jeune adulte</term><term>Lymphocytes T (immunologie)</term><term>Mâle</term></keywords><keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Immunoglobulin E</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Guanine Nucleotide Exchange Factors</term></keywords><keywords scheme="MESH" type="chemical" qualifier="immunology" xml:lang="en"><term>Allergens</term><term>Cytokines</term><term>Guanine Nucleotide Exchange Factors</term></keywords><keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Facteurs d'échange de nucléotides guanyliques</term></keywords><keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Agranulocytes</term><term>Allergènes</term><term>Cytokines</term><term>Déficits immunitaires</term><term>Facteurs d'échange de nucléotides guanyliques</term><term>Lymphocytes T</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>Immunologic Deficiency Syndromes</term><term>Leukocytes, Mononuclear</term><term>T-Lymphocytes</term></keywords><keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>Immunoglobuline E</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Humans</term><term>Male</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Jeune adulte</term><term>Mâle</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8. This disorder is characterized by recurrent cutaneous infections, increased serum IgE levels, and severe atopic disease, including food-induced anaphylaxis. However, the contribution of defects in CD4(+) T cells to disease pathogenesis in these patients has not been thoroughly investigated.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Mexique</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Manchester</li><li>Victoria (État)</li><li>État de New York</li></region><settlement><li>Manchester</li><li>Melbourne</li></settlement><orgName><li>Université de Manchester</li></orgName></list><tree><noCountry><name sortKey="Freeman, Alexandra F" sort="Freeman, Alexandra F" uniqKey="Freeman A" first="Alexandra F" last="Freeman">Alexandra F. Freeman</name><name sortKey="Orange, Jordan" sort="Orange, Jordan" uniqKey="Orange J" first="Jordan" last="Orange">Jordan Orange</name><name sortKey="Su, Helen C" sort="Su, Helen C" uniqKey="Su H" first="Helen C" last="Su">Helen C. Su</name><name sortKey="Uzel, Gulbu" sort="Uzel, Gulbu" uniqKey="Uzel G" first="Gulbu" last="Uzel">Gulbu Uzel</name></noCountry><country name="Australie"><noRegion><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G" last="Tangye">Stuart G. Tangye</name></noRegion><name sortKey="Avery, Danielle T" sort="Avery, Danielle T" uniqKey="Avery D" first="Danielle T" last="Avery">Danielle T. Avery</name><name sortKey="Goodnow, Christopher C" sort="Goodnow, Christopher C" uniqKey="Goodnow C" first="Christopher C" last="Goodnow">Christopher C. Goodnow</name><name sortKey="Gray, Paul" sort="Gray, Paul" uniqKey="Gray P" first="Paul" last="Gray">Paul Gray</name><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S" last="Ma">Cindy S. Ma</name><name sortKey="Peake, Jane" sort="Peake, Jane" uniqKey="Peake J" first="Jane" last="Peake">Jane Peake</name><name sortKey="Phan, Tri Giang" sort="Phan, Tri Giang" uniqKey="Phan T" first="Tri Giang" last="Phan">Tri Giang Phan</name><name sortKey="Pillay, Bethany" sort="Pillay, Bethany" uniqKey="Pillay B" first="Bethany" last="Pillay">Bethany Pillay</name><name sortKey="Randall, Katrina L" sort="Randall, Katrina L" uniqKey="Randall K" first="Katrina L" last="Randall">Katrina L. Randall</name><name sortKey="Smart, Joanne M" sort="Smart, Joanne M" uniqKey="Smart J" first="Joanne M" last="Smart">Joanne M. Smart</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="Royaume-Uni"><region name="Angleterre"><name sortKey="Arkwright, Peter D" sort="Arkwright, Peter D" uniqKey="Arkwright P" first="Peter D" last="Arkwright">Peter D. Arkwright</name></region><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name></region></country><country name="Mexique"><noRegion><name sortKey="Lugo Reyes, Saul Oswaldo" sort="Lugo Reyes, Saul Oswaldo" uniqKey="Lugo Reyes S" first="Saul Oswaldo" last="Lugo Reyes">Saul Oswaldo Lugo Reyes</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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