Erschienen in:
01.05.2015 | Astute Clinician Report
Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency
verfasst von:
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
Erschienen in:
Journal of Clinical Immunology
|
Ausgabe 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.