Article
Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.
Journal of clinical immunology - 1 May 2015
NaserEddin Adeeb, Shamriz Oded, Keller Baerbel, Alzyoud Raed M, Unger Susanne, Fisch Paul, Prus Evgenia, Berkun Yakov, Averbuch Diana, Shaag Avraham, Wahadneh Adel M, Conley Mary Ellen, Warnatz Klaus, Elpeleg Orly, Stepensky Polina
Abstract excerpt
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...
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