Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency

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• 作者：Adeeb NaserEddin ; Oded Shamriz ; Baerbel Keller…
• 关键词：BLNK ; B cell linker ; arthritis ; dermatitis ; enterovirus ; agammaglobulinemia
• 刊名：Journal of Clinical Immunology
• 出版年：2015
• 出版时间：May 2015
• 年：2015
• 卷：35
• 期：4
• 页码：356-360
• 全文大小：463 KB
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• 作者单位：Adeeb NaserEddin (1)
  Oded Shamriz (1)
  Baerbel Keller (2)
  Raed M. Alzyoud (3)
  Susanne Unger (2)
  Paul Fisch (4)
  Evgenia Prus (5)
  Yakov Berkun (6)
  Diana Averbuch (1) (7)
  Avraham Shaag (8)
  Adel M. Wahadneh (3)
  Mary Ellen Conley (9)
  Klaus Warnatz (2)
  Orly Elpeleg (7)
  Polina Stepensky (10)
  
  1. Pediatric Division, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
  2. Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, University of Freiburg, Freiburg im Breisgau, Germany
  3. Pediatric Immunology, Allergy and Rheumatology Division, Queen Rania Children鈥檚 Hospital, Amman, Jordan
  4. Department of Pathology, University of Freiburg Medical Center, Freiburg im Breisgau, Germany
  5. Immunophenotyping Laboratory, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
  6. Pediatric Department, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel
  7. Pediatric Infectious Diseases Unit, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
  8. Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  9. St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA
  10. Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Immunology
  Infectious Diseases
  Internal Medicine
  Medical Microbiology
  
• 出版者：Springer Netherlands
• ISSN：1573-2592

文摘

B-cell linker (BLNK) protein is a non-redundant adaptor molecule in the signaling pathway activated by (pre) B-cell antigen receptor signals. We present two siblings with a homozygous deleterious frameshift mutation in BLNK, resulting in a block of B cell development in the bone marrow at the preB1 to preB2 stage, absence of circulating B cells and agammaglobulinemia. This is the first description of an enteroviral infection associated arthritis and dermatitis in a patient with BLNK deficiency.