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Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.
- Source :
- Journal of Clinical Immunology; May2015, Vol. 35 Issue 4, p356-360, 5p
- Publication Year :
- 2015
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 02719142
- Volume :
- 35
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- Journal of Clinical Immunology
- Publication Type :
- Academic Journal
- Accession number :
- 102747767
- Full Text :
- https://doi.org/10.1007/s10875-015-0164-2