Although other clinical correlations were not made, 2 mutants, S319Cfs and V320Efs (the mutant in our patients), which completely lack the phosphorylation sites as well as dileucines and the degradation motifs, showed a trend toward greater CXCR4 accumulation in whole-cell lysates.
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Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.
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