Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
Identifieur interne : 001336 ( PubMed/Corpus ); précédent : 001335; suivant : 001337Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
Auteurs : Hassan Abolhassani ; Emily S J. Edwards ; Aydan Ikinciogullari ; Huie Jing ; Stephan Borte ; Marcus Buggert ; Likun Du ; Mami Matsuda-Lennikov ; Rosa Romano ; Rozina Caridha ; Sangeeta Bade ; Yu Zhang ; Juliet Frederiksen ; Mingyan Fang ; Sevgi Kostel Bal ; Sule Haskologlu ; Figen Dogu ; Nurdan Tacyildiz ; Helen F. Matthews ; Joshua J. Mcelwee ; Emma Gostick ; David A. Price ; Umaimainthan Palendira ; Asghar Aghamohammadi ; Bertrand Boisson ; Nima Rezaei ; Annika C. Karlsson ; Michael J. Lenardo ; Jean-Laurent Casanova ; Lennart Hammarström ; Stuart G. Tangye ; Helen C. Su ; Qiang Pan-HammarströmSource :
- The Journal of experimental medicine [ 1540-9538 ] ; 2017.
English descriptors
- KwdEn :
- Adolescent, Adult, Antigens, CD27 (physiology), Antigens, CD70 (deficiency), Antigens, CD70 (genetics), B-Lymphocytes (immunology), CD8-Positive T-Lymphocytes (immunology), Child, Cytotoxicity, Immunologic, Epstein-Barr Virus Infections (complications), Female, Herpesvirus 4, Human (immunology), Hodgkin Disease (etiology), Humans, Immunologic Deficiency Syndromes (complications), Immunologic Memory, Male, Mutation.
- MESH :
- chemical , deficiency : Antigens, CD70.
- chemical , genetics : Antigens, CD70.
- chemical , physiology : Antigens, CD27.
- complications : Epstein-Barr Virus Infections, Immunologic Deficiency Syndromes.
- etiology : Hodgkin Disease.
- immunology : B-Lymphocytes, CD8-Positive T-Lymphocytes, Herpesvirus 4, Human.
- Adolescent, Adult, Child, Cytotoxicity, Immunologic, Female, Humans, Immunologic Memory, Male, Mutation.
Abstract
In this study, we describe four patients from two unrelated families of different ethnicities with a primary immunodeficiency, predominantly manifesting as susceptibility to Epstein-Barr virus (EBV)-related diseases. Three patients presented with EBV-associated Hodgkin's lymphoma and hypogammaglobulinemia; one also had severe varicella infection. The fourth had viral encephalitis during infancy. Homozygous frameshift or in-frame deletions in CD70 in these patients abolished either CD70 surface expression or binding to its cognate receptor CD27. Blood lymphocyte numbers were normal, but the proportions of memory B cells and EBV-specific effector memory CD8(+) T cells were reduced. Furthermore, although T cell proliferation was normal, in vitro-generated EBV-specific cytotoxic T cell activity was reduced because of CD70 deficiency. This reflected impaired activation by, rather than effects during killing of, EBV-transformed B cells. Notably, expression of 2B4 and NKG2D, receptors implicated in controlling EBV infection, on memory CD8(+) T cells from CD70-deficient individuals was reduced, consistent with their impaired killing of EBV-infected cells. Thus, autosomal recessive CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of inherited CD27 deficiency. Overall, human CD70-CD27 interactions therefore play a nonredundant role in T and B cell-mediated immunity, especially for protection against EBV and humoral immunity.
DOI: 10.1084/jem.20160849
PubMed: 28011864
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pubmed:28011864Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.</title><author><name sortKey="Abolhassani, Hassan" sort="Abolhassani, Hassan" uniqKey="Abolhassani H" first="Hassan" last="Abolhassani">Hassan Abolhassani</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Edwards, Emily S J" sort="Edwards, Emily S J" uniqKey="Edwards E" first="Emily S J" last="Edwards">Emily S J. Edwards</name><affiliation><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Ikinciogullari, Aydan" sort="Ikinciogullari, Aydan" uniqKey="Ikinciogullari A" first="Aydan" last="Ikinciogullari">Aydan Ikinciogullari</name><affiliation><nlm:affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Jing, Huie" sort="Jing, Huie" uniqKey="Jing H" first="Huie" last="Jing">Huie Jing</name><affiliation><nlm:affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Borte, Stephan" sort="Borte, Stephan" uniqKey="Borte S" first="Stephan" last="Borte">Stephan Borte</name><affiliation><nlm:affiliation>ImmunoDeficiency Center Leipzig, Hospital St. Georg Leipzig, D-04129 Leipzig, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Buggert, Marcus" sort="Buggert, Marcus" uniqKey="Buggert M" first="Marcus" last="Buggert">Marcus Buggert</name><affiliation><nlm:affiliation>Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Du, Likun" sort="Du, Likun" uniqKey="Du L" first="Likun" last="Du">Likun Du</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Matsuda Lennikov, Mami" sort="Matsuda Lennikov, Mami" uniqKey="Matsuda Lennikov M" first="Mami" last="Matsuda-Lennikov">Mami Matsuda-Lennikov</name><affiliation><nlm:affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Romano, Rosa" sort="Romano, Rosa" uniqKey="Romano R" first="Rosa" last="Romano">Rosa Romano</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Caridha, Rozina" sort="Caridha, Rozina" uniqKey="Caridha R" first="Rozina" last="Caridha">Rozina Caridha</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Bade, Sangeeta" sort="Bade, Sangeeta" uniqKey="Bade S" first="Sangeeta" last="Bade">Sangeeta Bade</name><affiliation><nlm:affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Yu" sort="Zhang, Yu" uniqKey="Zhang Y" first="Yu" last="Zhang">Yu Zhang</name><affiliation><nlm:affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Frederiksen, Juliet" sort="Frederiksen, Juliet" uniqKey="Frederiksen J" first="Juliet" last="Frederiksen">Juliet Frederiksen</name><affiliation><nlm:affiliation>Department of Systems Biology, Technical University of Denmark, 2800 Kgs. Lyngby, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Fang, Mingyan" sort="Fang, Mingyan" uniqKey="Fang M" first="Mingyan" last="Fang">Mingyan Fang</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Bal, Sevgi Kostel" sort="Bal, Sevgi Kostel" uniqKey="Bal S" first="Sevgi Kostel" last="Bal">Sevgi Kostel Bal</name><affiliation><nlm:affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Haskologlu, Sule" sort="Haskologlu, Sule" uniqKey="Haskologlu S" first="Sule" last="Haskologlu">Sule Haskologlu</name><affiliation><nlm:affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Dogu, Figen" sort="Dogu, Figen" uniqKey="Dogu F" first="Figen" last="Dogu">Figen Dogu</name><affiliation><nlm:affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Tacyildiz, Nurdan" sort="Tacyildiz, Nurdan" uniqKey="Tacyildiz N" first="Nurdan" last="Tacyildiz">Nurdan Tacyildiz</name><affiliation><nlm:affiliation>Department of Pediatric Hematology and Oncology, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Matthews, Helen F" sort="Matthews, Helen F" uniqKey="Matthews H" first="Helen F" last="Matthews">Helen F. Matthews</name><affiliation><nlm:affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Mcelwee, Joshua J" sort="Mcelwee, Joshua J" uniqKey="Mcelwee J" first="Joshua J" last="Mcelwee">Joshua J. Mcelwee</name><affiliation><nlm:affiliation>Merck Research Laboratories, Merck & Co., Boston, MA 02115.</nlm:affiliation></affiliation></author><author><name sortKey="Gostick, Emma" sort="Gostick, Emma" uniqKey="Gostick E" first="Emma" last="Gostick">Emma Gostick</name><affiliation><nlm:affiliation>Division of Infection and Immunity, Cardiff University School of Medicine, Cardiff CF14 4XN, Wales, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Price, David A" sort="Price, David A" uniqKey="Price D" first="David A" last="Price">David A. Price</name><affiliation><nlm:affiliation>Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Palendira, Umaimainthan" sort="Palendira, Umaimainthan" uniqKey="Palendira U" first="Umaimainthan" last="Palendira">Umaimainthan Palendira</name><affiliation><nlm:affiliation>Centenary Institute, University of Sydney, Newtown NSW 2042, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Aghamohammadi, Asghar" sort="Aghamohammadi, Asghar" uniqKey="Aghamohammadi A" first="Asghar" last="Aghamohammadi">Asghar Aghamohammadi</name><affiliation><nlm:affiliation>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran.</nlm:affiliation></affiliation></author><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.</nlm:affiliation></affiliation></author><author><name sortKey="Rezaei, Nima" sort="Rezaei, Nima" uniqKey="Rezaei N" first="Nima" last="Rezaei">Nima Rezaei</name><affiliation><nlm:affiliation>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran.</nlm:affiliation></affiliation></author><author><name sortKey="Karlsson, Annika C" sort="Karlsson, Annika C" uniqKey="Karlsson A" first="Annika C" last="Karlsson">Annika C. Karlsson</name><affiliation><nlm:affiliation>Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Lenardo, Michael J" sort="Lenardo, Michael J" uniqKey="Lenardo M" first="Michael J" last="Lenardo">Michael J. Lenardo</name><affiliation><nlm:affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></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><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.</nlm:affiliation></affiliation></author><author><name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarström">Lennart Hammarström</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></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><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia Qiang.Pan-Hammarstrom@ki.se s.tangye@garvan.org.au hsu@niaid.nih.gov.</nlm:affiliation></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 20892 Qiang.Pan-Hammarstrom@ki.se s.tangye@garvan.org.au hsu@niaid.nih.gov.</nlm:affiliation></affiliation></author><author><name sortKey="Pan Hammarstrom, Qiang" sort="Pan Hammarstrom, Qiang" uniqKey="Pan Hammarstrom Q" first="Qiang" last="Pan-Hammarström">Qiang Pan-Hammarström</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden Qiang.Pan-Hammarstrom@ki.se s.tangye@garvan.org.au hsu@niaid.nih.gov.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28011864</idno><idno type="pmid">28011864</idno><idno type="doi">10.1084/jem.20160849</idno><idno type="wicri:Area/PubMed/Corpus">001336</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001336</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.</title><author><name sortKey="Abolhassani, Hassan" sort="Abolhassani, Hassan" uniqKey="Abolhassani H" first="Hassan" last="Abolhassani">Hassan Abolhassani</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Edwards, Emily S J" sort="Edwards, Emily S J" uniqKey="Edwards E" first="Emily S J" last="Edwards">Emily S J. Edwards</name><affiliation><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Ikinciogullari, Aydan" sort="Ikinciogullari, Aydan" uniqKey="Ikinciogullari A" first="Aydan" last="Ikinciogullari">Aydan Ikinciogullari</name><affiliation><nlm:affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Jing, Huie" sort="Jing, Huie" uniqKey="Jing H" first="Huie" last="Jing">Huie Jing</name><affiliation><nlm:affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Borte, Stephan" sort="Borte, Stephan" uniqKey="Borte S" first="Stephan" last="Borte">Stephan Borte</name><affiliation><nlm:affiliation>ImmunoDeficiency Center Leipzig, Hospital St. Georg Leipzig, D-04129 Leipzig, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Buggert, Marcus" sort="Buggert, Marcus" uniqKey="Buggert M" first="Marcus" last="Buggert">Marcus Buggert</name><affiliation><nlm:affiliation>Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Du, Likun" sort="Du, Likun" uniqKey="Du L" first="Likun" last="Du">Likun Du</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Matsuda Lennikov, Mami" sort="Matsuda Lennikov, Mami" uniqKey="Matsuda Lennikov M" first="Mami" last="Matsuda-Lennikov">Mami Matsuda-Lennikov</name><affiliation><nlm:affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Romano, Rosa" sort="Romano, Rosa" uniqKey="Romano R" first="Rosa" last="Romano">Rosa Romano</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Caridha, Rozina" sort="Caridha, Rozina" uniqKey="Caridha R" first="Rozina" last="Caridha">Rozina Caridha</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Bade, Sangeeta" sort="Bade, Sangeeta" uniqKey="Bade S" first="Sangeeta" last="Bade">Sangeeta Bade</name><affiliation><nlm:affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Yu" sort="Zhang, Yu" uniqKey="Zhang Y" first="Yu" last="Zhang">Yu Zhang</name><affiliation><nlm:affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Frederiksen, Juliet" sort="Frederiksen, Juliet" uniqKey="Frederiksen J" first="Juliet" last="Frederiksen">Juliet Frederiksen</name><affiliation><nlm:affiliation>Department of Systems Biology, Technical University of Denmark, 2800 Kgs. Lyngby, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Fang, Mingyan" sort="Fang, Mingyan" uniqKey="Fang M" first="Mingyan" last="Fang">Mingyan Fang</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Bal, Sevgi Kostel" sort="Bal, Sevgi Kostel" uniqKey="Bal S" first="Sevgi Kostel" last="Bal">Sevgi Kostel Bal</name><affiliation><nlm:affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Haskologlu, Sule" sort="Haskologlu, Sule" uniqKey="Haskologlu S" first="Sule" last="Haskologlu">Sule Haskologlu</name><affiliation><nlm:affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Dogu, Figen" sort="Dogu, Figen" uniqKey="Dogu F" first="Figen" last="Dogu">Figen Dogu</name><affiliation><nlm:affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Tacyildiz, Nurdan" sort="Tacyildiz, Nurdan" uniqKey="Tacyildiz N" first="Nurdan" last="Tacyildiz">Nurdan Tacyildiz</name><affiliation><nlm:affiliation>Department of Pediatric Hematology and Oncology, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</nlm:affiliation></affiliation></author><author><name sortKey="Matthews, Helen F" sort="Matthews, Helen F" uniqKey="Matthews H" first="Helen F" last="Matthews">Helen F. Matthews</name><affiliation><nlm:affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Mcelwee, Joshua J" sort="Mcelwee, Joshua J" uniqKey="Mcelwee J" first="Joshua J" last="Mcelwee">Joshua J. Mcelwee</name><affiliation><nlm:affiliation>Merck Research Laboratories, Merck & Co., Boston, MA 02115.</nlm:affiliation></affiliation></author><author><name sortKey="Gostick, Emma" sort="Gostick, Emma" uniqKey="Gostick E" first="Emma" last="Gostick">Emma Gostick</name><affiliation><nlm:affiliation>Division of Infection and Immunity, Cardiff University School of Medicine, Cardiff CF14 4XN, Wales, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Price, David A" sort="Price, David A" uniqKey="Price D" first="David A" last="Price">David A. Price</name><affiliation><nlm:affiliation>Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></affiliation></author><author><name sortKey="Palendira, Umaimainthan" sort="Palendira, Umaimainthan" uniqKey="Palendira U" first="Umaimainthan" last="Palendira">Umaimainthan Palendira</name><affiliation><nlm:affiliation>Centenary Institute, University of Sydney, Newtown NSW 2042, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Aghamohammadi, Asghar" sort="Aghamohammadi, Asghar" uniqKey="Aghamohammadi A" first="Asghar" last="Aghamohammadi">Asghar Aghamohammadi</name><affiliation><nlm:affiliation>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran.</nlm:affiliation></affiliation></author><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.</nlm:affiliation></affiliation></author><author><name sortKey="Rezaei, Nima" sort="Rezaei, Nima" uniqKey="Rezaei N" first="Nima" last="Rezaei">Nima Rezaei</name><affiliation><nlm:affiliation>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran.</nlm:affiliation></affiliation></author><author><name sortKey="Karlsson, Annika C" sort="Karlsson, Annika C" uniqKey="Karlsson A" first="Annika C" last="Karlsson">Annika C. Karlsson</name><affiliation><nlm:affiliation>Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Lenardo, Michael J" sort="Lenardo, Michael J" uniqKey="Lenardo M" first="Michael J" last="Lenardo">Michael J. Lenardo</name><affiliation><nlm:affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</nlm:affiliation></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><nlm:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.</nlm:affiliation></affiliation></author><author><name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarström">Lennart Hammarström</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</nlm:affiliation></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><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia Qiang.Pan-Hammarstrom@ki.se s.tangye@garvan.org.au hsu@niaid.nih.gov.</nlm:affiliation></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 20892 Qiang.Pan-Hammarstrom@ki.se s.tangye@garvan.org.au hsu@niaid.nih.gov.</nlm:affiliation></affiliation></author><author><name sortKey="Pan Hammarstrom, Qiang" sort="Pan Hammarstrom, Qiang" uniqKey="Pan Hammarstrom Q" first="Qiang" last="Pan-Hammarström">Qiang Pan-Hammarström</name><affiliation><nlm:affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden Qiang.Pan-Hammarstrom@ki.se s.tangye@garvan.org.au hsu@niaid.nih.gov.</nlm:affiliation></affiliation></author></analytic><series><title level="j">The Journal of experimental medicine</title><idno type="eISSN">1540-9538</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>Antigens, CD27 (physiology)</term><term>Antigens, CD70 (deficiency)</term><term>Antigens, CD70 (genetics)</term><term>B-Lymphocytes (immunology)</term><term>CD8-Positive T-Lymphocytes (immunology)</term><term>Child</term><term>Cytotoxicity, Immunologic</term><term>Epstein-Barr Virus Infections (complications)</term><term>Female</term><term>Herpesvirus 4, Human (immunology)</term><term>Hodgkin Disease (etiology)</term><term>Humans</term><term>Immunologic Deficiency Syndromes (complications)</term><term>Immunologic Memory</term><term>Male</term><term>Mutation</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Antigens, CD70</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Antigens, CD70</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Antigens, CD27</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Epstein-Barr Virus Infections</term><term>Immunologic Deficiency Syndromes</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Hodgkin Disease</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>B-Lymphocytes</term><term>CD8-Positive T-Lymphocytes</term><term>Herpesvirus 4, Human</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Cytotoxicity, Immunologic</term><term>Female</term><term>Humans</term><term>Immunologic Memory</term><term>Male</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In this study, we describe four patients from two unrelated families of different ethnicities with a primary immunodeficiency, predominantly manifesting as susceptibility to Epstein-Barr virus (EBV)-related diseases. Three patients presented with EBV-associated Hodgkin's lymphoma and hypogammaglobulinemia; one also had severe varicella infection. The fourth had viral encephalitis during infancy. Homozygous frameshift or in-frame deletions in CD70 in these patients abolished either CD70 surface expression or binding to its cognate receptor CD27. Blood lymphocyte numbers were normal, but the proportions of memory B cells and EBV-specific effector memory CD8(+) T cells were reduced. Furthermore, although T cell proliferation was normal, in vitro-generated EBV-specific cytotoxic T cell activity was reduced because of CD70 deficiency. This reflected impaired activation by, rather than effects during killing of, EBV-transformed B cells. Notably, expression of 2B4 and NKG2D, receptors implicated in controlling EBV infection, on memory CD8(+) T cells from CD70-deficient individuals was reduced, consistent with their impaired killing of EBV-infected cells. Thus, autosomal recessive CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of inherited CD27 deficiency. Overall, human CD70-CD27 interactions therefore play a nonredundant role in T and B cell-mediated immunity, especially for protection against EBV and humoral immunity.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">28011864</PMID><DateCreated><Year>2016</Year><Month>12</Month><Day>24</Day></DateCreated><DateCompleted><Year>2017</Year><Month>08</Month><Day>10</Day></DateCompleted><DateRevised><Year>2017</Year><Month>11</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1540-9538</ISSN><JournalIssue CitedMedium="Internet"><Volume>214</Volume><Issue>1</Issue><PubDate><Year>2017</Year><Month>Jan</Month></PubDate></JournalIssue><Title>The Journal of experimental medicine</Title><ISOAbbreviation>J. Exp. Med.</ISOAbbreviation></Journal><ArticleTitle>Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.</ArticleTitle><Pagination><MedlinePgn>91-106</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1084/jem.20160849</ELocationID><Abstract><AbstractText>In this study, we describe four patients from two unrelated families of different ethnicities with a primary immunodeficiency, predominantly manifesting as susceptibility to Epstein-Barr virus (EBV)-related diseases. Three patients presented with EBV-associated Hodgkin's lymphoma and hypogammaglobulinemia; one also had severe varicella infection. The fourth had viral encephalitis during infancy. Homozygous frameshift or in-frame deletions in CD70 in these patients abolished either CD70 surface expression or binding to its cognate receptor CD27. Blood lymphocyte numbers were normal, but the proportions of memory B cells and EBV-specific effector memory CD8(+) T cells were reduced. Furthermore, although T cell proliferation was normal, in vitro-generated EBV-specific cytotoxic T cell activity was reduced because of CD70 deficiency. This reflected impaired activation by, rather than effects during killing of, EBV-transformed B cells. Notably, expression of 2B4 and NKG2D, receptors implicated in controlling EBV infection, on memory CD8(+) T cells from CD70-deficient individuals was reduced, consistent with their impaired killing of EBV-infected cells. Thus, autosomal recessive CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of inherited CD27 deficiency. Overall, human CD70-CD27 interactions therefore play a nonredundant role in T and B cell-mediated immunity, especially for protection against EBV and humoral immunity.</AbstractText><CopyrightInformation>© 2017 Abolhassani et al.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Abolhassani</LastName><ForeName>Hassan</ForeName><Initials>H</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-4838-0407</Identifier><AffiliationInfo><Affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Edwards</LastName><ForeName>Emily S J</ForeName><Initials>ES</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-0240-4370</Identifier><AffiliationInfo><Affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst NSW 2010, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ikinciogullari</LastName><ForeName>Aydan</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jing</LastName><ForeName>Huie</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Borte</LastName><ForeName>Stephan</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>ImmunoDeficiency Center Leipzig, Hospital St. Georg Leipzig, D-04129 Leipzig, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Buggert</LastName><ForeName>Marcus</ForeName><Initials>M</Initials><Identifier Source="ORCID">http://orcid.org/0000-0003-0633-1719</Identifier><AffiliationInfo><Affiliation>Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Microbiology, University of Pennsylvania, Philadelphia, PA 19104.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Du</LastName><ForeName>Likun</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Matsuda-Lennikov</LastName><ForeName>Mami</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Romano</LastName><ForeName>Rosa</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Caridha</LastName><ForeName>Rozina</ForeName><Initials>R</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-3663-6575</Identifier><AffiliationInfo><Affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bade</LastName><ForeName>Sangeeta</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Yu</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frederiksen</LastName><ForeName>Juliet</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Systems Biology, Technical University of Denmark, 2800 Kgs. Lyngby, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fang</LastName><ForeName>Mingyan</ForeName><Initials>M</Initials><Identifier Source="ORCID">http://orcid.org/0000-0001-7185-6445</Identifier><AffiliationInfo><Affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bal</LastName><ForeName>Sevgi Kostel</ForeName><Initials>SK</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-3718-5323</Identifier><AffiliationInfo><Affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Haskologlu</LastName><ForeName>Sule</ForeName><Initials>S</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-2668-0441</Identifier><AffiliationInfo><Affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dogu</LastName><ForeName>Figen</ForeName><Initials>F</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-7869-4941</Identifier><AffiliationInfo><Affiliation>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tacyildiz</LastName><ForeName>Nurdan</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Pediatric Hematology and Oncology, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Matthews</LastName><ForeName>Helen F</ForeName><Initials>HF</Initials><AffiliationInfo><Affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>McElwee</LastName><ForeName>Joshua J</ForeName><Initials>JJ</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-4888-7152</Identifier><AffiliationInfo><Affiliation>Merck Research Laboratories, Merck & Co., Boston, MA 02115.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gostick</LastName><ForeName>Emma</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Division of Infection and Immunity, Cardiff University School of Medicine, Cardiff CF14 4XN, Wales, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Price</LastName><ForeName>David A</ForeName><Initials>DA</Initials><AffiliationInfo><Affiliation>Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Division of Infection and Immunity, Cardiff University School of Medicine, Cardiff CF14 4XN, Wales, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Palendira</LastName><ForeName>Umaimainthan</ForeName><Initials>U</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-1113-3306</Identifier><AffiliationInfo><Affiliation>Centenary Institute, University of Sydney, Newtown NSW 2042, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Aghamohammadi</LastName><ForeName>Asghar</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Primary Immunodeficiency Diseases Network, Universal Scientific Education and Research Network, 14149 Tehran, Iran.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boisson</LastName><ForeName>Bertrand</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale U.1163, Necker Hospital for Sick Children, 75015 Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Paris Descartes University, Imagine Institute, 75015 Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rezaei</LastName><ForeName>Nima</ForeName><Initials>N</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-3836-1827</Identifier><AffiliationInfo><Affiliation>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Primary Immunodeficiency Diseases Network, Universal Scientific Education and Research Network, 14149 Tehran, Iran.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Karlsson</LastName><ForeName>Annika C</ForeName><Initials>AC</Initials><AffiliationInfo><Affiliation>Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lenardo</LastName><ForeName>Michael J</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Casanova</LastName><ForeName>Jean-Laurent</ForeName><Initials>JL</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-7782-4169</Identifier><AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale U.1163, Necker Hospital for Sick Children, 75015 Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Paris Descartes University, Imagine Institute, 75015 Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Howard Hughes Medical Institute, New York, NY 10065.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hammarström</LastName><ForeName>Lennart</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tangye</LastName><ForeName>Stuart G</ForeName><Initials>SG</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-5360-5180</Identifier><AffiliationInfo><Affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia Qiang.Pan-Hammarstrom@ki.se s.tangye@garvan.org.au hsu@niaid.nih.gov.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst NSW 2010, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Su</LastName><ForeName>Helen C</ForeName><Initials>HC</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-5582-9110</Identifier><AffiliationInfo><Affiliation>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 Qiang.Pan-Hammarstrom@ki.se s.tangye@garvan.org.au hsu@niaid.nih.gov.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pan-Hammarström</LastName><ForeName>Qiang</ForeName><Initials>Q</Initials><AffiliationInfo><Affiliation>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden Qiang.Pan-Hammarstrom@ki.se s.tangye@garvan.org.au hsu@niaid.nih.gov.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>12</Month><Day>23</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>J Exp Med</MedlineTA><NlmUniqueID>2985109R</NlmUniqueID><ISSNLinking>0022-1007</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018127">Antigens, CD27</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D053282">Antigens, CD70</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C505771">CD70 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Int Immunol. 2008 Apr;20(4):625-30</RefSource><PMID Version="1">18326863</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Immunol. 2008 Mar 15;180(6):3739-45</RefSource><PMID Version="1">18322179</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Allergy Clin Immunol. 2012 Mar;129(3):787-793.e6</RefSource><PMID Version="1">22197273</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Curr Opin Immunol. 2005 Jun;17(3):275-81</RefSource><PMID Version="1">15886117</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet. 1993 Aug 14;342(8868):398-401</RefSource><PMID Version="1">8101902</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Int J Cancer. 2012 Sep 1;131(5):E830-5</RefSource><PMID Version="1">22213068</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2014 Oct 16;124(16):2544-53</RefSource><PMID Version="1">25171927</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pharmacol Ther. 2015 Nov;155:1-10</RefSource><PMID Version="1">26213107</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Pathol. 2001 May;54(5):401-3</RefSource><PMID Version="1">11328843</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Immunol Rev. 2009 May;229(1):216-31</RefSource><PMID Version="1">19426224</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cytometry A. 2011 Feb;79(2):167-74</RefSource><PMID Version="1">21265010</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann N Y Acad Sci. 2015 Nov;1356:22-44</RefSource><PMID Version="1">26415106</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Immunol. 2014 Oct;34(7):772-9</RefSource><PMID Version="1">25085526</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Commun. 2016 May 25;7:11686</RefSource><PMID Version="1">27221592</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2009 Sep 24;114(13):2657-66</RefSource><PMID Version="1">19628705</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Immunol. 2013 Feb 1;190(3):1169-79</RefSource><PMID Version="1">23269247</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Exp Med. 2003 Nov 3;198(9):1369-80</RefSource><PMID Version="1">14581610</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Immunol. 2003 Jan 1;170(1):33-40</RefSource><PMID Version="1">12496380</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Haematologica. 2013 Mar;98(3):473-8</RefSource><PMID Version="1">22801960</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Allergy Clin Immunol. 2015 Sep;136(3):703-712.e10</RefSource><PMID Version="1">25843314</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Immunol. 2000 Aug;30(8):2437-43</RefSource><PMID Version="1">10940936</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2016 Sep;48(9):1071-6</RefSource><PMID Version="1">27428751</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Annu Rev Immunol. 2015;33:787-821</RefSource><PMID Version="1">25706097</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Allergy Clin Immunol. 2014 Dec;134(6):1375-80</RefSource><PMID Version="1">24996264</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Immunol. 2015 May;35(4):331-8</RefSource><PMID Version="1">25737324</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Exp Med. 1998 Nov 2;188(9):1691-703</RefSource><PMID Version="1">9802981</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cell. 1993 May 7;73(3):447-56</RefSource><PMID Version="1">8387892</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Immunol. 1996 Dec;26(12):2964-71</RefSource><PMID Version="1">8977292</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Methods. 2016 Feb;13(2):109-10</RefSource><PMID Version="1">26820543</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Clin Immunol. 2014 Nov;155(1):118-25</RefSource><PMID Version="1">25241079</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Immunol Cell Biol. 2011 Oct;89(7):803-11</RefSource><PMID Version="1">21283110</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Eur J Immunol. 1995 Oct;25(10):2825-9</RefSource><PMID Version="1">7589078</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Immunol. 2015 Nov;35(8):696-726</RefSource><PMID Version="1">26482257</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):E7128-37</RefSource><PMID Version="1">26621750</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Immunol. 1995 Mar 15;154(6):2612-23</RefSource><PMID Version="1">7876536</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2014 Mar;46(3):310-5</RefSource><PMID Version="1">24487276</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Allergy Clin Immunol. 2015 May;135(5):1380-4.e1-5</RefSource><PMID Version="1">25512081</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Leuk Lymphoma. 1999 Oct;35(3-4):219-25</RefSource><PMID Version="1">10706444</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20</RefSource><PMID Version="1">26483451</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):E7118-27</RefSource><PMID Version="1">26621739</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS Biol. 2011 Nov;9(11):e1001187</RefSource><PMID Version="1">22069374</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Exp Med. 1998 May 4;187(9):1395-402</RefSource><PMID Version="1">9565632</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Exp Med. 2005 Nov 21;202(10):1349-61</RefSource><PMID Version="1">16287711</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Immunol. 2014 Jul 15;193(2):871-8</RefSource><PMID Version="1">24913981</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Immunol. 1997 Nov 15;159(10):4959-65</RefSource><PMID Version="1">9366422</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Immunol. 1997 Sep 15;159(6):2652-7</RefSource><PMID Version="1">9300684</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 1998 Jan 1;91(1):173-80</RefSource><PMID Version="1">9414282</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Curr Top Microbiol Immunol. 2015;390(Pt 1):241-65</RefSource><PMID Version="1">26424649</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2010 Oct 28;116(17 ):3249-57</RefSource><PMID Version="1">20644117</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Immunol. 2000 Nov;1(5):433-40</RefSource><PMID Version="1">11062504</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Exp Med. 2002 Apr 1;195(7):893-905</RefSource><PMID Version="1">11927633</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Science. 2013 Jul 12;341(6142):186-91</RefSource><PMID Version="1">23846901</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Semin Arthritis Rheum. 2016 Feb;45(4):496-501</RefSource><PMID Version="1">26359318</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Front Immunol. 2012 Dec 11;3:377</RefSource><PMID 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