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Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency
Adeeb NaserEddin1, Oded Shamriz, Baerbel Keller
1Pediatric Division, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.
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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