Dissemin is shutting down on January 1st, 2025

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Springer (part of Springer Nature), Journal of Clinical Immunology, 4(35), p. 356-360

DOI: 10.1007/s10875-015-0164-2

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Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency

This paper is available in a repository.
This paper is available in a repository.

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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.