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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 4/2015

01-05-2015 | Astute Clinician Report

Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency

Authors: Adeeb NaserEddin, Oded Shamriz, Baerbel Keller, Raed M. Alzyoud, Susanne Unger, Paul Fisch, Evgenia Prus, Yakov Berkun, Diana Averbuch, Avraham Shaag, Adel M. Wahadneh, Mary Ellen Conley, Klaus Warnatz, Orly Elpeleg, Polina Stepensky

Published in: Journal of Clinical Immunology | Issue 4/2015

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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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Metadata
Title
Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency
Authors
Adeeb NaserEddin
Oded Shamriz
Baerbel Keller
Raed M. Alzyoud
Susanne Unger
Paul Fisch
Evgenia Prus
Yakov Berkun
Diana Averbuch
Avraham Shaag
Adel M. Wahadneh
Mary Ellen Conley
Klaus Warnatz
Orly Elpeleg
Polina Stepensky
Publication date
01-05-2015
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 4/2015
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-015-0164-2

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