Further delineation of primary B cell immunodeficiency caused by novel variants of the BLNK gene in two Chinese patients.
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DOI: 10.1016/j.clim.2020.108387
Abstract: Biallelic variants in BLNK cause primary B-cell immunodeficiency that usually results in absence of B cells and immunoglobulin. Here, we identified disease-causing variant(s) in two unrelated Chinese patients with agammaglobulinemia. Patient 1 showed a moderate… read more here.
Keywords: primary cell; chinese patients; cell immunodeficiency; variants blnk ... See more keywords