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Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency

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Abstract

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.

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Acknowledgments

We would like to thank Howard Lederman MD, Ph.D from Johns Hopkins Hospital and Sara Sebnem Kilic, MD from Uludag University, School of Medicine, Bursa, Turkey, for providing clinical follow up regarding their patients.

Conflict of Interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Pediatric Division, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel

    Adeeb NaserEddin, Oded Shamriz & Diana Averbuch

  2. Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, University of Freiburg, Freiburg im Breisgau, Germany

    Baerbel Keller, Susanne Unger & Klaus Warnatz

  3. Pediatric Immunology, Allergy and Rheumatology Division, Queen Rania Children’s Hospital, Amman, Jordan

    Raed M. Alzyoud & Adel M. Wahadneh

  4. Department of Pathology, University of Freiburg Medical Center, Freiburg im Breisgau, Germany

    Paul Fisch

  5. Immunophenotyping Laboratory, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel

    Evgenia Prus

  6. Pediatric Department, Hadassah-Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel

    Yakov Berkun

  7. Pediatric Infectious Diseases Unit, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel

    Diana Averbuch & Orly Elpeleg

  8. Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

    Avraham Shaag

  9. St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA

    Mary Ellen Conley

  10. Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel

    Polina Stepensky

Authors
  1. Adeeb NaserEddin
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  2. Oded Shamriz
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  3. Baerbel Keller
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  4. Raed M. Alzyoud
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  5. Susanne Unger
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  6. Paul Fisch
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  7. Evgenia Prus
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  8. Yakov Berkun
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  9. Diana Averbuch
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  10. Avraham Shaag
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  11. Adel M. Wahadneh
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  12. Mary Ellen Conley
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  13. Klaus Warnatz
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  14. Orly Elpeleg
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  15. Polina Stepensky
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Corresponding author

Correspondence to Oded Shamriz.

Additional information

A. Naser Eddin, O. Shamriz and B. Keller contributed equally in the making of this manuscript and should all be considered as “first authors” .

K. Warnatz, O. Elpeleg, and P. Stepensky contributed equally in the making of this manuscript and should all be considered as “last authors”

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NaserEddin, A., Shamriz, O., Keller, B. et al. Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency. J Clin Immunol 35, 356–360 (2015). https://doi.org/10.1007/s10875-015-0164-2

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  • DOI: https://doi.org/10.1007/s10875-015-0164-2

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